WorldWideScience

Sample records for bardet-biedl syndrome-associated small

  1. Bardet-Biedl Syndrome

    Science.gov (United States)

    ... Honor a Loved One Monthly Giving Employee Matching Workplace Giving Remember FFB in Your Will or Estate ... have small genitalia (testes and penis). Because female sexual organ size is more ... aids and orientation as well as from mobility training. Researchers have ...

  2. Bardet-biedl syndrome in a child with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Valavi Ehsan

    2009-01-01

    Full Text Available A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient′s history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retar-dation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS. The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.

  3. Bardet-biedl syndrome in a child with chronic kidney disease

    International Nuclear Information System (INIS)

    A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retardation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis. (author)

  4. Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report

    Directory of Open Access Journals (Sweden)

    Meral Torun Bayram

    2014-04-01

    Full Text Available Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet-Biedl syndrome.

  5. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

    NARCIS (Netherlands)

    Agha, Z.; Iqbal, Z.; Azam, M.; Hoefsloot, L.H.; Bokhoven, J.H.L.M. van; Qamar, R.

    2013-01-01

    Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia. Bardet-Biedl Syndrome has a prevalence rate ranging from 1 in 100,000 to 1 in 160,000 births although there

  6. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

    DEFF Research Database (Denmark)

    Hjortshøj, T Duelund; Grønskov, K; Brøndum-Nielsen, K;

    2009-01-01

    Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found....

  7. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

    NARCIS (Netherlands)

    Ajmal, M.; Khan, M.I.; Neveling, K.; Tayyab, A.; Jaffar, S.; Sadeque, A.; Ayub, H.; Abbasi, N.M.; Riaz, M.; Micheal, S.; Gilissen, C.F.H.A.; Ali, S.H.; Azam, M.; Collin, R.W.J.; Cremers, F.P.M.; Qamar, R.

    2013-01-01

    PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal pr

  8. Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

    OpenAIRE

    Brinckman, Danielle D.; Keppler-Noreuil, Kim M.; Blumhorst, Catherine; Leslie G Biesecker; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A

    2013-01-01

    Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smel...

  9. Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

    OpenAIRE

    Hamlington, Barbara; Lauren E Ivey; Brenna, Ethan; Biesecker, Leslie G.; Biesecker, Barbara B.; Sapp, Julie C

    2015-01-01

    Background A child’s obesity is generally perceived by the public to be under the control of the child’s parents. While the health consequences of childhood obesity are well understood, less is known about psychological and social effects of having an obese child on parents. We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with Bardet-Biedl syndrome (BBS), a multisystem genetic disorder, and their parents. Methods Twenty-eight parents of chi...

  10. Visual acuity and retinal function in patients with Bardet-Biedl syndrome

    Directory of Open Access Journals (Sweden)

    Adriana Berezovsky

    2012-01-01

    Full Text Available OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7 was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%, 20/50-20/150 in 13 (56.5% patients, 20/200-20/400 in 2 (8.7% patients and worse than 20/400 in one (4.3% patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent. Scotopic rod and maximal responses were nondetectable in 21 (91.3% patients, and cone responses were non-detectable in 15 (65.2% patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6% patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.

  11. A RARE ASSOCIATION OF BARDET BIEDL SYNDROME WITH VERTICAL ORBITAL DYSTOPIA AND SITUS INVERSUS WITH DEXTROCARDIA

    Directory of Open Access Journals (Sweden)

    Naidu

    2015-02-01

    Full Text Available Bardet Biedl syndrome includes presence of retinitis pimentosa along with obesity, polydactyl, hypogonadism, renal deformities,and learning disabilities. Orbital dystopia is any type of abnormal displacement of the entire orbital cones and their contents that can occur in three different dimensional planes. Situs describes the anatomic position of cardiac atria and visera. Situs solitus is normal anatomic position and situs inversus is the mirror image of the situs solitus. We report a case of a 13 year old male whom we diagnosed as a case of BBS with rare association with vertical orbital dystopia and situs inversus with dextrocardia

  12. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.

    Science.gov (United States)

    Braun, J-J; Noblet, V; Durand, M; Scheidecker, S; Zinetti-Bertschy, A; Foucher, J; Marion, V; Muller, J; Riehm, S; Dollfus, H; Kremer, S

    2014-12-01

    Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in BBS patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.

  13. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

    Science.gov (United States)

    Ross, Alison J; May-Simera, Helen; Eichers, Erica R; Kai, Masatake; Hill, Josephine; Jagger, Daniel J; Leitch, Carmen C; Chapple, J Paul; Munro, Peter M; Fisher, Shannon; Tan, Perciliz L; Phillips, Helen M; Leroux, Michel R; Henderson, Deborah J; Murdoch, Jennifer N; Copp, Andrew J; Eliot, Marie-Madeleine; Lupski, James R; Kemp, David T; Dollfus, Hélène; Tada, Masazumi; Katsanis, Nicholas; Forge, Andrew; Beales, Philip L

    2005-10-01

    The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes.

  14. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

    Science.gov (United States)

    Marion, Vincent; Stoetzel, Corinne; Schlicht, Dominique; Messaddeq, Nadia; Koch, Michael; Flori, Elisabeth; Danse, Jean Marc; Mandel, Jean-Louis; Dollfus, Hélène

    2009-02-10

    Bardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of neuroendocrine origin. In this study, we show that while the proliferating preadipocytes or mature adipocytes are nonciliated in culture, a typical primary cilium is present in differentiating preadipocytes. This transient cilium carries receptors for Wnt and Hedgehog pathways, linking this organelle to previously described regulatory pathways of adipogenesis. We also show that the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis. Moreover, adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS. PMID:19190184

  15. A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

    Science.gov (United States)

    Saida, Ken; Inaba, Yuji; Hirano, Makito; Satake, Wataru; Toda, Tatsushi; Suzuki, Yutaka; Sudo, Asuka; Noda, Shunsuke; Hidaka, Yoshihiko; Hirabayashi, Kazutaka; Imai, Hiroki; Kurokawa, Toru; Koike, Kenichi

    2014-09-01

    Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300 mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment. PMID:24290075

  16. Mapping of Genes Involved in Bardet-Biedl Syndrome (BBS in Pakistani Population

    Directory of Open Access Journals (Sweden)

    Shiraz Ahmad

    2012-07-01

    Full Text Available Bardet-Biedl Syndrome (BBS, one of an autosomal recessive or clinically and genetically heterogeneous disorder, which prevails all over the world and results due to increased rate of consanguinity. All of these BBS genes are involved either directly or indirectly in signaling pathways such as Leptin receptor signaling pathway and Wnt signaling pathway. The study presented here includes genetic mapping of two consanguineous families (A & B with BBS. (21.63-Mb region was found to be critical as it was gene rich and contains approximately eighty known and predicted genes. Out of eighty genes six (FGF2, BBS7, BBS12, NUDT6, SPATA5 and SPRY1 were found to be candidate genes. On mutations screening, sequencing of the coding exon 2 of BBS12 in affected individuals identified a novel homozygous c.2103C 1 A mutation, which is predicted to insert a stop codon at position 701 of the BBS12 protein (p.S701X. Identification of BBS12 mutation in families B can increase our understanding of molecular genetics and pathophysiology of BBS.

  17. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

    Energy Technology Data Exchange (ETDEWEB)

    Carmi, R.; Elbedour, K. [Ben-Gurion Univ., Beer-Sheva (Israel); Stone, E.M.; Sheffield, V.C. [Univ. of Iowa, IA (United States)

    1995-11-06

    Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients form 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the {open_quotes}leanest{close_quotes} form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and the identification of human obesity-related genes. 22 refs., 1 fig., 4 tabs.

  18. Clinical analysis of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang%南疆首例维吾尔族 Bardet-Biedl 综合征患儿诊治分析

    Institute of Scientific and Technical Information of China (English)

    伊鹏; 刘虹; 买合木提江买买提; 赛排尔江艾尼; 牛会林

    2014-01-01

    Objective To investigate the clinical characteristics of the first Uyghur case of Bardet-Biedl syndrome in southern Xinjiang,and summarize the experiences on diagnosis and therapy. Methods The data on medical history,physical examination,laboratory examination and imaging examination were collected.Department of pediatrics,orthopedics,anesthesiol-ogy,ophthalmology,stomatology and radiology all took part in the consultation. Results After multi-discipline consultation, the child was proved to be suffered with bronchopneumonia,obesity,mental retardation,absence of 1 2,22,32,42 incisors,DⅠdeciduous tooth retention,Polydactyly (six fingers)of both hands and feet,microcaulia,night blindness,retinitis pigmento-sa,and high myopia. Conclusion Based on the history and clinical presentation,the child was diagnosed with Bardet-Biedl syndrome.After retrieving literature database in English and Chinese,we found out that there is no report on Bardet-Biedl syn-drome in southern Xinjiang previously.Thus,we report the first Uyghur case of Bardet-Biedl syndrome in this area.Nowadays, there is no method to cure this disease totally,and symptomatic treatment could improve the patient's living condition partially.%目的:调查分析南疆首例维吾尔族 Bardet-Biedl 综合征患儿的临床特点,总结诊治经验。方法对患儿进行病史采集,体格检查,实验室检查,影像学检查等,请儿科,骨外科,麻醉科,眼科,口腔科,放射科等多学科联合会诊以协助诊断。结果多科会诊后确定患儿存在支气管肺炎,肥胖,智力低下,12,22,32,42切牙缺失,DⅠ乳牙滞留,双手6指畸形,双足6趾畸形,阴茎短小,夜盲,视网膜色素变性,高度近视等问题。结论患儿确诊为 Bardet-Biedl 综合征,检索中外文文献,南疆地区未见本病的报道。我们首次在南疆地区报道了罕见的 Bar-det-Biedl 综合征患儿。目前该病尚无根治方法,主要给以

  19. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

    Science.gov (United States)

    Laurier, Virginie; Stoetzel, Corinne; Muller, Jean; Thibault, Christelle; Corbani, Sandra; Jalkh, Nadine; Salem, Nabiha; Chouery, Eliane; Poch, Olivier; Licaire, Serge; Danse, Jean-Marc; Amati-Bonneau, Patricia; Bonneau, Dominique; Mégarbané, André; Mandel, Jean-Louis; Dollfus, Hélène

    2006-11-01

    The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping analysis in an extended consanguineous family living in a small Lebanese village. This uncovered an unexpectedly complex pattern of mutations, and led us to identify a novel BBS gene (BBS10). In one sibship of the pedigree, a BBS2 homozygous mutation was identified, while in three other sibships, a homozygous missense mutation was identified in a gene encoding a vertebrate-specific chaperonine-like protein (BBS10). The single patient in the last sibship was a compound heterozygote for the above BBS10 mutation and another one in the same gene. Although triallelism (three deleterious alleles in the same patient) has been described in some BBS families, we have to date no evidence that this is the case in the present family. The analysis of this family challenged linkage analysis based on the expectation of a single locus and mutation. The very high informativeness of SNP arrays was instrumental in elucidating this case, which illustrates possible pitfalls of homozygosity mapping in extended families, and that can be explained by the rather high prevalence of heterozygous carriers of BBS mutations (estimated at one in 50 in Europeans). PMID:16823392

  20. Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

    Science.gov (United States)

    Brinckman, Danielle D; Keppler-Noreuil, Kim M; Blumhorst, Catherine; Biesecker, Leslie G; Sapp, Julie C; Johnston, Jennifer J; Wiggs, Edythe A

    2013-12-01

    Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, Rey Auditory Verbal Learning Test, Boston Naming Test, D-KEFS Verbal Fluency Test, D-KEFS Color-Word Interference Test, D-KEFS Sorting Test, Wide Range Achievement Test: Math and Reading Subtests, Purdue Pegboard, The University of Pennsylvania Smell Identification Test, Social Communication Questionnaire, Social Responsiveness Scale, and Behavior Assessment System for Children, Second Edition, Parent Rating Scale. On the age appropriate Wechsler scale, the mean Verbal Comprehension was 81 (n = 36), Working Memory was 81 (n = 36), Perceptual Reasoning was 78 (n = 24) and Full Scale IQ was 75 (n = 26). Memory for a word list (Rey Auditory Verbal Learning Test) was in the average range with a mean of 89 (n = 19). Fine motor speed was slow on the Purdue with mean scores 3-4 standard deviations below norms. All subjects were microsmic on the University of Pennsylvania Smell Identification Test. Of these 42 patients, only 6 were able to complete all auditory and visual tests; 52% were unable to complete the visual tests due to impaired vision. A wide range of behavioral issues were endorsed on questionnaires given to parents. Most had social skill deficits but no pattern of either externalizing or internalizing problems. We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction. PMID:24194441

  1. Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants.

    Directory of Open Access Journals (Sweden)

    Brian H Lee

    2011-12-01

    Full Text Available Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays. Disruptions of BBS proteins in a variety of organisms impair cilia formation and function and the multi-organ defects of BBS have been attributed to deficiencies in various cilia-associated signaling pathways. In C. elegans, bbs genes are expressed exclusively in the sixty ciliated sensory neurons of these animals and bbs mutants exhibit sensory defects as well as body size, feeding, and metabolic abnormalities. Here we show that in contrast to many other cilia-defective mutants, C. elegans bbs mutants exhibit increased release of dense-core vesicles and organism-wide phenotypes associated with enhanced activities of insulin, neuropeptide, and biogenic amine signaling pathways. We show that the altered body size, feeding, and metabolic abnormalities of bbs mutants can be corrected to wild-type levels by abrogating the enhanced secretion of dense-core vesicles without concomitant correction of ciliary defects. These findings expand the role of BBS proteins to the regulation of dense-core-vesicle exocytosis and suggest that some features of Bardet-Biedl Syndrome may be caused by excessive neuroendocrine secretion.

  2. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

    Science.gov (United States)

    Muller, Jean; Stoetzel, C; Vincent, M C; Leitch, C C; Laurier, V; Danse, J M; Hellé, S; Marion, V; Bennouna-Greene, V; Vicaire, S; Megarbane, A; Kaplan, J; Drouin-Garraud, V; Hamdani, M; Sigaudy, S; Francannet, C; Roume, J; Bitoun, P; Goldenberg, A; Philip, N; Odent, S; Green, J; Cossée, M; Davis, E E; Katsanis, N; Bonneau, D; Verloes, A; Poch, O; Mandel, J L; Dollfus, H

    2010-03-01

    Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations. PMID:20177705

  3. A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5 Protein that Is Selectively Expressed in Retina.

    Directory of Open Access Journals (Sweden)

    Susan N Bolch

    Full Text Available Bardet-Biedl syndrome is a complex ciliopathy that usually manifests with some form of retinal degeneration, amongst other ciliary-related deficiencies. One of the genetic causes of this syndrome results from a defect in Bardet-Biedl Syndrome 5 (BBS5 protein. BBS5 is one component of the BBSome, a complex of proteins that regulates the protein composition in cilia. In this study, we identify a smaller molecular mass form of BBS5 as a variant formed by alternative splicing and show that expression of this splice variant is restricted to the retina.Reverse transcription PCR from RNA was used to isolate and identify potential alternative transcripts of Bbs5. A peptide unique to the C-terminus of the BBS5 splice variant was synthesized and used to prepare antibodies that selectively recognized the BBS5 splice variant. These antibodies were used on immunoblots of tissue extracts to determine the extent of expression of the alternative transcript and on tissue slices to determine the localization of expressed protein. Pull-down of fluorescently labeled arrestin1 by immunoprecipitation of the BBS5 splice variant was performed to assess functional interaction between the two proteins.PCR from mouse retinal cDNA using Bbs5-specific primers amplified a unique cDNA that was shown to be a splice variant of BBS5 resulting from the use of cryptic splicing sites in Intron 7. The resulting transcript codes for a truncated form of the BBS5 protein with a unique 24 amino acid C-terminus, and predicted 26.5 kD molecular mass. PCR screening of RNA isolated from various ciliated tissues and immunoblots of protein extracts from these same tissues showed that this splice variant was expressed in retina, but not brain, heart, kidney, or testes. Quantitative PCR showed that the splice variant transcript is 8.9-fold (+/- 1.1-fold less abundant than the full-length transcript. In the retina, the splice variant of BBS5 appears to be most abundant in the connecting cilium

  4. Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

    Science.gov (United States)

    Braun, J J; Noblet, V; Kremer, S; Molière, S; Dollfus, H; Marion, V; Goetz, N; Muller, J; Riehm, S

    2016-07-01

    Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects by global visual evaluation and by quantitative measurement of OB volume. In the 12 control cases OB visual evaluation was considered as normal in all cases for radiologist (SR) and in 10 cases for radiologist (SM). In the 20 BBS patients, OB visual evaluation was considered as abnormal in 18 cases for SR and in all cases for SM. OB volumetric evaluation for SR and SM in BBS patients was able to provide significant correlation between BBS and olfactory dysfunction. This study indicates that OB volume evaluation by MRI imaging like structural MRI scan for gray matter modifications demonstrates that olfactory dysfunction in BBS patients is a constant and cardinal symptom integrated in a genetical syndrome with peripheral and central olfactory structure alterations. PMID:26586152

  5. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

    Institute of Scientific and Technical Information of China (English)

    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan

    2014-01-01

    Background Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease,and information about BBS in Chinese populations is very limited.The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family.Methods Clinical data were recorded for the 4-year-old female proband and the available family members.The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).The variants detected in the proband were further confirmed in the other family members.Results We identified a novel homozygous nonsense mutation (c.70A>T,p.K24X) in the BBS4 gene exon 2 in the proband.Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein,and probably induced the nonsense-mediated decay of BBS4 messenger RNAs.The proband's parents and brother were heterozygous for the nonsense mutant allele.It was absent in 50 Chinese control subjects.An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband,her father and her brother.Some manifestations of the proband including atypical retinitis pigmentosa,choroidal sclerosis,high myopia,and early onset of obesity might be associated with this mutation in BBS4 gene.The proband's father also reported surgical removal of an extra finger during childhood.Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family.This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein.We also detected a rare heterozygous missense SNP in BBS10 gene in the family,but did not find sufficient evidence to support the triallelic inheritance.

  6. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS

    Directory of Open Access Journals (Sweden)

    Johnston Jennifer

    2011-07-01

    Full Text Available Abstract Background Bardet-Biedl syndrome (BBS is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and behavioural problems. BBS mouse models have a neuroanatomical phenotype consisting of third and lateral ventriculomegaly, thinning of the cerebral cortex, and reduction in the size of the corpus striatum and hippocampus. These abnormalities raise the question of whether humans with BBS have a characteristic morphologic brain phenotype. Further, although behavioral, developmental, neurological and motor defects have been noted in patients with BBS, to date, there are limited reports of brain findings in BBS. The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems. Methods A case-control study of 21 patients, most aged 13-35 years, except for 2 patients aged 4 and 8 years, who were diagnosed with BBS by clinical criteria and genetic analysis of known BBS genes, and were evaluated by qualitative and volumetric brain MRI scans. Healthy controls were matched 3:1 by age, sex and race. Statistical analysis was performed using SAS language with SAS STAT procedures. Results All 21 patients with BBS were found to have statistically significant region- and tissue-specific patterns of brain abnormalities. There was 1 normal intracranial volume; 2 reduced white matter in all regions of the brain, but most in the occipital region; 3 preserved gray matter volume, with increased cerebral cortex volume in only the occipital lobe; 4 reduced gray matter in the subcortical regions of the brain, including the caudate, putamen and thalamus, but not in the cerebellum; and 5 increased cerebrospinal fluid volume. Conclusions There are distinct and characteristic abnormalities in tissue- and region- specific volumes

  7. 巴德-毕氏综合征研究的现状及意义%Current status and implication of research on Bardet-Biedl syndrome

    Institute of Scientific and Technical Information of China (English)

    沈涛; 严新民; 肖春杰

    2013-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s.BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy,obesity,polydactyly,renal malformations and functional abnormalities,learning disabilities and hypogenitalism.BBS patients are also prone to diabetes mellitus,hypertension and congenital heart disease.To date,16 BBS genes (BBS1-BBS16)have been identified.However,the molecular etiology of BBS is not yet entirely clear.In this article,we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.%巴德-毕氏综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传疾病,由Bardet 和Biedl在1920年首次报道.BBS具有高度的遗传异质性,其临床症状包括视网膜营养不良、肥胖、多指/趾、肾畸形或肾功异常、学习障碍及性腺发育不全等.BBS患者常伴糖尿病、高血压及先心病等继发症状.迄今已发现16个BBS基因(BBS1~BBS16)异常可以导致BBS表型,但其分子致病机制仍不完全清楚.

  8. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    Science.gov (United States)

    Redin, Claire; Le Gras, Stéphanie; Mhamdi, Oussema; Geoffroy, Véronique; Stoetzel, Corinne; Vincent, Marie-Claire; Chiurazzi, Pietro; Lacombe, Didier; Ouertani, Ines; Petit, Florence; Till, Marianne; Verloes, Alain; Jost, Bernard; Chaabouni, Habiba Bouhamed; Dollfus, Helene; Mandel, Jean-Louis; Muller, Jean

    2012-01-01

    Background Bardet-Biedl syndrome (BBS) is a pleiotropic recessive disorder that belongs to the rapidly growing family of ciliopathies. It shares phenotypic traits with other ciliopathies, such as Alström syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. BBS mutations have been detected in 16 different genes (BBS1-BBS16) without clear genotype-to-phenotype correlation. This extensive genetic heterogeneity is a major concern for molecular diagnosis and genetic counselling. While various strategies have been recently proposed to optimise mutation detection, they either fail to detect mutations in a majority of patients or are time consuming and costly. Method We tested a targeted exon-capture strategy coupled with multiplexing and high-throughput sequencing on 52 patients: 14 with known mutations as proof-of-principle and 38 with no previously detected mutation. Thirty genes were targeted in total including the 16 BBS genes, the 12 known NPHP genes, the single ALMS gene ALMS1 and the proposed modifier CCDC28B. Results This strategy allowed the reliable detection of causative mutations (including homozygous/heterozygous exon deletions) in 68% of BBS patients without previous molecular diagnosis and in all proof-of-principle samples. Three probands carried homozygous truncating mutations in ALMS1 confirming the major phenotypic overlap between both disorders. The efficiency of detecting mutations in patients was positively correlated with their compliance with the classical BBS phenotype (mutations were identified in 81% of ‘classical’ BBS patients) suggesting that only a few true BBS genes remain to be identified. We illustrate some interpretation problems encountered due to the multiplicity of identified variants. Conclusion This strategy is highly efficient and cost effective for diseases with high genetic heterogeneity, and guarantees a quality of coverage in coding sequences of target genes suited for diagnosis purposes. PMID:22773737

  9. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

    Science.gov (United States)

    Stoetzel, Corinne; Muller, Jean; Laurier, Virginie; Davis, Erica E; Zaghloul, Norann A; Vicaire, Serge; Jacquelin, Cecile; Plewniak, Frederic; Leitch, Carmen C; Sarda, Pierre; Hamel, Christian; de Ravel, Thomy J L; Lewis, Richard Alan; Friederich, Evelyne; Thibault, Christelle; Danse, Jean-Marc; Verloes, Alain; Bonneau, Dominique; Katsanis, Nicholas; Poch, Olivier; Mandel, Jean-Louis; Dollfus, Helene

    2007-01-01

    Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, possibly hinting at partial functional redundancy within this protein family. PMID:17160889

  10. Genetics Home Reference: Bardet-Biedl syndrome

    Science.gov (United States)

    ... vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet- ... result from mutations in at least 14 different genes (often called BBS genes). These genes are known ...

  11. Opsoclonus-myoclonus syndrome associated with non-small cell lung cancer.

    Science.gov (United States)

    Karasaki, Takahiro; Tanaka, Makoto

    2015-11-01

    A 68-year-old man developed progressive vertigo, saccadic eye movements, and tremors. Computed tomography showed multiple lung nodules. Surgery was performed and the pathological diagnosis was large cell neuroendocrine carcinoma in the left upper lobe with ipsilobar metastases, and adenocarcinoma in the left lower lobe. The neurological symptoms resolved dramatically after complete resection of the tumors. Opsoclonus-myoclonus syndrome associated with non-small-cell lung carcinoma is extremely rare. Surgery should not be delayed if a complete resection is expected.

  12. Disease: H00418 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ion. BBS is typified by clinical variability observed both within and between families... C, Nishimura D New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: dete

  13. Inhibiting severe acute respiratory syndrome-associated coronavirus by small interfering RNA

    Institute of Scientific and Technical Information of China (English)

    张仁礼; 郭中敏; 陆家海; 孟锦绣; 周灿权; 詹希美; 黄冰; 余新炳; 黄民; 潘兴华; 凌文华; 陈系古; 万卓越; 郑焕英; 鄢心革; 王一飞; 冉延超; 刘新健; 马俊鑫; 王承宇; 张必良

    2003-01-01

    Objective To evaluate the effectiveness of small interfering RNA (siRNA) on inhibiting severe acute respiratory syndrome (SARS)-associated coronavirus replication, and to lay bases for the future clinical application of siRNA for the treatment of viral infectious diseases.Methods Vero-E6 cells was transfected with siRNA before SARS virus infection, and the effectiveness of siRNA interference was evaluated by observing the cytopathic effect (CPE) on Vero-E6 cells.Results Five pairs of siRNA showed ability to reduce CPE dose dependently, and two of them had the best effect. Conclusion siRNA may be effective in inhibiting SARS-associated coronavirus replication.

  14. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

    Science.gov (United States)

    Moore, S W

    2012-11-01

    Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children. It is characterized as a sex-linked heterogonous disorder with variable severity and incomplete penetrance giving rise to a variable pattern of inheritance. Although Hirschsprung's disease occurs as an isolated phenotype in at least 70% of cases, it is not infrequently associated with a number of congenital abnormalities and associated syndromes, demonstrating a spectrum of congenital anomalies. Certain of these syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction, in its pathogenesis. These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour associations. A number of other autosomal recessive syndromes include the Shah-Waardenburg, the Bardet-Biedl and Cartilage-hair hypoplasia, Goldberg-Shprintzen syndromes and other syndromes related to cholesterol and fat metabolism among others. The genetics of Hirschsprung's disease are highly complex with the majority of known genetic sites relating to the main susceptibility pathways (RET an EDNRB). Non-syndromic non-familial, short-segment HSCR appears to represent a non-Mendelian condition with variable expression and sex-dependent penetrance. Syndromic and familial forms, on the other hand, have complex patterns of inheritance and being reported as autosomal dominant, recessive and polygenic patterns of inheritance. The phenotypic variability and incomplete penetrance observed in Hirschsprung's disease could also be explained by the involvement of modifier genes, especially in its syndromic forms. In this review, we look at the chromosomal and Mendelian associations and their underlying signalling pathways

  15. Genetic and bibliographic information: BBS5 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available BBS5 Bardet-Biedl syndrome 5 human Bardet-Biedl Syndrome (MeSH) Nervous System Dise...s (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonatal Disea... Multiple (C16.131.077) > Bardet-Biedl Syndrome (C16.131.077.112) 99A0284114 ...

  16. Lynch syndrome-associated neoplasms

    DEFF Research Database (Denmark)

    Shia, Jinru; Holck, Susanne; Depetris, Giovanni;

    2013-01-01

    of such information. This article provides an overview of the development of histopathology and immunohistochemistry in Lynch syndrome-associated tumors, particularly in colorectal and endometrial cancers, and outlines the issues and current status of these specific pathologic aspects in not only the major tumors...

  17. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  18. Genetic Syndromes Associated with Craniosynostosis.

    Science.gov (United States)

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  19. Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients

    Directory of Open Access Journals (Sweden)

    Ugur Halac

    2012-01-01

    Full Text Available Bardet-Biedel syndrome (BBS is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. Our objective was to describe a 14-year-old patient with BBS who presented with Crohn disease (CD, primary sclerosing cholangitis (PSC, and thyroiditis in the context of a cohort review at Sainte-Justine Hospital and to alert clinicians to the increased risk of autoimmune disorders in these patients. The cohort contained fifteen patients (9 boys, followed from 1968 to 2009 during a median period of 12 years (range 9 months–26 years. Three of the 15 patients (20% developed a chronic autoimmune disease: one had juvenile rheumatoid arthritis; a second one had type 1 diabetes mellitus in association with Hashimoto thyroiditis and psoriasis; a third one developed CD, PSC, and Hashimoto thyroiditis. As chronic autoimmune diseases occurred in 20% of our cohort of children with BBS, it is appropriate to keep this association in mind during the followup.

  20. Syndrome-Associated Tumors by Organ System.

    Science.gov (United States)

    Gonzalez, Raul S; Riddle, Nicole D

    2016-06-01

    Certain tumors suggest the possibility of a patient harboring a genetic syndrome, particularly in children. Syndrome-associated tumors of the gastrointestinal tract, genitourinary tract, gynecologic tract, heart, lungs, brain, eye, endocrine organs, and hematopoietic system will be briefly discussed.

  1. Prune belly syndrome associated with incomplete VACTERL

    Directory of Open Access Journals (Sweden)

    Ghritlaharey R

    2007-01-01

    Full Text Available A Prune Belly syndrome with VATER/VACTERL association is an extremely rare. They are either stillborn or die within few days of life, only few such cases have been reported in literature. We are presenting here a male neonate of Prune Belly syndrome associated with incomplete VACTERL with brief review of literature.

  2. Baller-Gerold syndrome associated with dextrocardia.

    Science.gov (United States)

    Ceylan, A; Peker, E; Dogan, M; Tuncer, O; Kirimi, E

    2011-01-01

    Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.

  3. MOMO syndrome associated with autism: a case report.

    Science.gov (United States)

    Giunco, C T; Moretti-Ferreira, D; Silva, A E; Rocha, S S; Fett-Conte, A C

    2008-11-04

    This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.

  4. Genetic and bibliographic information: ARL6 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available ARL6 ADP-ribosylation factor-like 6 human Bardet-Biedl Syndrome (MeSH) Nervous Syst...Diseases (C10.228.140.617) > Bardet-Biedl Syndrome (C10.228.140.617.200) Congenital, Hereditary, and Neonata...lities, Multiple (C16.131.077) > Bardet-Biedl Syndrome (C16.131.077.112) 99A0284114 ...

  5. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  6. The meta - analysis of Laurance - Moon - Bardet - Biedl syndrome%多指(趾)-肥胖-肾-眼综合征2例并文献复习分析

    Institute of Scientific and Technical Information of China (English)

    杨毅华; 倪伟锋; 陈慎仁; 杨贤明

    2006-01-01

    目的总结Laurance-Moon-Bardet-Biedl综合征(LMBBS)(多指-肥胖-肾-眼综合征)的发病情况及临床表现,并与国外文献报道进行比较.以提高临床医生对该综合征的认识.方法对1987-2003年对汕头大学医学院附属第二医院的2例LMBBS报告,以及国外462例、国内94例文献,进行分析.结果LMBBS有较高的血缘率及阳性家族史,视网膜色素变性、智力低下、肥胖、性发育不良和多指(趾)畸形五大主症,临床表现复杂多变.结论应避免近亲结婚.国外新近提出的诊断标准及调查方法,有利于患者儿童期的早期诊断.

  7. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

    OpenAIRE

    Ying, K L; J. Oizumi; Curry, C J

    1990-01-01

    This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

  8. [A case of Sweet's syndrome associated with Crohn's disease].

    Science.gov (United States)

    Gonzálvez Perales, J L; Tamarit Ortí, R; Ballester Fayos, J; Jiménez Martínez, A; Antón Conejero, M D; Rodríguez Gil, F J; Moreno Osset, E; González Martínez, M A

    1997-03-01

    The Sweet syndrome or acute febrile neutrophilic dermatosis is a well characterized cutaneous disease from a clinical and histological point of view and is frequently associated with systemic diseases. Prognosis is favorable with good response to corticoid therapy. A well documented case of Sweet syndrome associated with an outbreak of Crohn's disease with peculiar good therapeutic response is reported. PMID:9162534

  9. Carpal tunnel syndrome associated with Kienböck disease

    Science.gov (United States)

    Shinohara, Takaaki; Nakamura, Ryogo; Nakao, Etsuhiro; Hirata, Hitoshi

    2016-01-01

    ABSTRACT We retrospectively reviewed 12 patients (3 men and 9 women, with a mean age of 72 years) who were surgically treated for carpal tunnel syndrome associated with Kienböck disease. All patients except 1 were incidentally diagnosed with Kienböck disease and had little or no wrist pain. Radiographic tests revealed advanced Kienböck disease in all patients. Intraoperative findings indicated that the site of maximum compression on the median nerve was located at the level of the carpal tunnel inlet in 11 patients, and the volar dislocated fragment of the lunate was located proximally adjacent to the floor of the carpal tunnel inlet. This disorder is most prevalent in elderly women, and even advanced Kienböck disease can present without wrist pain. Our findings suggest that palmar protrusion of the lunate may be the primary cause of carpal tunnel syndrome associated with Kienböck disease. PMID:27578910

  10. Gitelman syndrome associated with chondrocalcinosis: description of two cases

    Directory of Open Access Journals (Sweden)

    E. Filippucci

    2011-06-01

    Full Text Available Gitelman syndrome is a rare inherited tubulopathy, characterized by hypomagnesemia, hypokalemia, metabolic alkalosis, hypocalciuria and hyperreninemic hyperaldosteronism. The clinical spectrum is wide and includes: cramps, myalgies, muscle weakness, until episodes of carpo-podalic spasm, tetania, rabdomyolisis and paralysis. Some cases have been described in literature underlining the association of this condition with chondrocalcinosis, as a typical example of hypomagnesemia-induced crystal deposition disease. The therapy of Gitelman syndrome consists on the administration of defective electrolytes, althought not always effective. We describe two cases of Gitelman syndrome associated with chondrocalcinosis showing the wide range of presentation of this clinical condition.

  11. Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Anderson Oliver

    2008-11-01

    Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

  12. Vici syndrome associated with sensorineural hearing loss and laryngomalacia.

    Science.gov (United States)

    Ozkale, Murat; Erol, Ilknur; Gümüş, Ayten; Ozkale, Yasemin; Alehan, Füsun

    2012-11-01

    The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported, several involving morphologic and functional defects in addition to those described in the initial case. We report on a 3-month-old Turkish girl with Vici syndrome associated with laryngomalacia, further expanding the clinical spectrum. We also review clinical features in all 15 Vici syndrome patients, to distinguish general from less common signs. To the best of our knowledge, this report is the first of a Turkish patient with Vici syndrome. PMID:23044023

  13. [A case of Sotos syndrome associated with peripheral nerve involvements].

    Science.gov (United States)

    Funakawa, I; Katoh, H; Hara, K; Yasuda, T; Terao, A

    1992-03-01

    A case of the Sotos syndrome associated with peripheral nerve involvements was reported. A 52-year-old male was admitted to Kawasaki Medical School Hospital because of gait disturbance, muscle atrophy, and weakness in both hands. This case was diagnosed as the Sotos syndrome based on the following symptoms and findings, acromegaloid features, hypertrophic changes in the hands and feet, a history of epileptic episodes, a low IQ, a normal growth hormone value, and no tumor lesion in the pituitary gland. Radiological examination disclosed a cauliflower-like appearance of the finger tips and thickness of the heel pads. Brain CT and MRI revealed diffuse mild brain atrophy. An electroencephalogram showed diffuse theta waves with sharp waves in the right parietal region. A needle electromyogram revealed neurogenic change in both upper and lower limbs. A nerve conduction study disclosed the carpal tunnel syndrome and cubital tunnel syndrome. These findings suggest that, as in the case of acromegaly, entrapment neuropathy and peripheral neuropathy can also be induced in the Sotos syndrome.

  14. Disease: H00910 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available denburg syndrome [DS:H00759] Mowat-Wilson syndrome [DS:H...Following syndromes are Hirschsprung-like phenotypes. Bardet-Biedl syndrome [DS:H00418] Shprintzen-Goldberg syndrome [DS:H00659] Waar

  15. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    Science.gov (United States)

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  16. Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

    OpenAIRE

    Shigeyuki Furuta; Hideaki Sato; Shiho Hamano; Hiroaki Kitagawa

    2015-01-01

    We present a rare family consisting of a 10-month-old boy with complete Currarino syndrome associated with Hirschsprung's disease. His mother had been diagnosed as having incomplete Currarino syndrome. Only 11 cases of Currarino syndrome associated with Hirschsprung's disease have been reported in the literature. Our report suggests that it is necessary to perform preoperative examinations to rule out Hirschsprung's disease, if the patient presents with a history of severe defecation disorder...

  17. A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival.

    Science.gov (United States)

    Da Silva Rios, Salete; Monteiro, Isabella Christina Mazzaro; Braz Dos Santos, Larissa Gonçalves; Caldas, Natasha Garcia; Chen, Ana Carolina Rios; Chen, Juliana Rios; Silva, Helena Spindola Camargo

    2015-01-01

    Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time. PMID:25960730

  18. A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

    Directory of Open Access Journals (Sweden)

    Salete Da Silva Rios

    2015-03-01

    Full Text Available Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

  19. Porites white patch syndrome: associated viruses and disease physiology

    Science.gov (United States)

    Lawrence, S. A.; Davy, J. E.; Wilson, W. H.; Hoegh-Guldberg, O.; Davy, S. K.

    2015-03-01

    In recent decades, coral reefs worldwide have undergone significant changes in response to various environmental and anthropogenic impacts. Among the numerous causes of reef degradation, coral disease is one factor that is to a large extent still poorly understood. Here, we characterize the physiology of white patch syndrome (WPS), a disease affecting poritid corals on the Great Barrier Reef. WPS manifests as small, generally discrete patches of tissue discolouration. Physiological analysis revealed that chlorophyll a content was significantly lower in lesions than in healthy tissues, while host protein content remained constant, suggesting that host tissue is not affected by WPS. This was confirmed by transmission electron microscope (TEM) examination, which showed intact host tissue within lesions. TEM also revealed that Symbiodinium cells are lost from the host gastrodermis with no apparent harm caused to the surrounding host tissue. Also present in the electron micrographs were numerous virus-like particles (VLPs), in both coral and Symbiodinium cells. Small (<50 nm diameter) icosahedral VLPs were significantly more abundant in coral tissue taken from diseased colonies, and there was an apparent, but not statistically significant, increase in abundance of filamentous VLPs in Symbiodinium cells from diseased colonies. There was no apparent increase in prokaryotic or eukaryotic microbial abundance in diseased colonies. Taken together, these results suggest that viruses infecting the coral and/or its resident Symbiodinium cells may be the causative agents of WPS.

  20. Adult Reye-like syndrome associated with serologic evidence of acute parvovirus B19 infection

    Directory of Open Access Journals (Sweden)

    Paulo Sérgio Gonçalves da Costa

    2011-10-01

    Full Text Available Reye's syndrome is an infrequently diagnosed medical condition affecting mainly children. The etiology, epidemiology and natural history of Reye's syndrome have been cloudily written in footnotes of medical books and exotic papers since the initial description in early 1950s. We report here a case of adult Reye's syndrome associated with serologic evidence of parvovirus B19 infection.

  1. It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL

    Science.gov (United States)

    Awad, Karim; Lall, Anupam

    2016-01-01

    Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported in 1993 and so far the majority have either been stillbirths or died shortly after birth. We present a case of Prune belly syndrome associated with VACTERL who is now one year old. PMID:27433451

  2. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Science.gov (United States)

    Gueutin, Victor; Langlois, Anne-Lyse; Shehwaro, Nathalie; Elharraqui, Ryme; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported. PMID:24558629

  3. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    OpenAIRE

    Victor Gueutin; Anne-Lyse Langlois; Nathalie Shehwaro; Ryme Elharraqui; Philippe Rouvier; Hassane Izzedine

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  4. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Directory of Open Access Journals (Sweden)

    Victor Gueutin

    2013-01-01

    Full Text Available Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  5. Multiple evanescent white dot syndrome associated with retinal vasculitis

    Directory of Open Access Journals (Sweden)

    Takahashi A

    2015-09-01

    Full Text Available Akihiro Takahashi, Wataru Saito, Yuki Hashimoto, Susumu Ishida Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan Purpose: A recent study revealed thickening of the inner retinal layers in acute stage of multiple evanescent white dot syndrome (MEWDS; however, the pathogenesis is still unknown. We report two cases with MEWDS whose funduscopy showed obvious retinal vasculitis. Methods: Case reports. Results: Healthy myopic 16- and 27-year-old women were the cases under study. In both cases, funduscopic examination revealed multiple, faint, small, subretinal white dots at the posterior pole to the midperiphery and macular granularity oculus dexter. Retinal vascular sheathing was also observed at midperiphery. Late-phase fluorescein angiography revealed leakages corresponding to the vascular sheathing. Enhanced depth imaging optical coherence tomography revealed the discontinuity of the ellipsoid zone corresponding to the white dots and increased macular choroidal thickness. One month later, these white dots and retinal sheathing spontaneously resolved in both cases. Three months later, impairments of the outer retinal morphology and the visual acuity were restored. Conclusion: These results suggest that retinal vasculitis possibly plays a role in the pathogenesis of thickened inner retinal layers in acute stage of MEWDS. Keywords: enhanced depth imaging optical coherence tomography, choroidal thickness, inner retinal layer, retinal vascular sheathing

  6. Ramsay Hunt Syndrome Associated with Central Nervous System Involvement in an Adult.

    Science.gov (United States)

    Chan, Tommy L H; Cartagena, Ana M; Bombassaro, Anne Marie; Hosseini-Moghaddam, Seyed M

    2016-01-01

    Ramsay Hunt syndrome associated with varicella zoster virus reactivation affecting the central nervous system is rare. We describe a 55-year-old diabetic female who presented with gait ataxia, right peripheral facial palsy, and painful vesicular lesions involving her right ear. Later, she developed dysmetria, fluctuating diplopia, and dysarthria. Varicella zoster virus was detected in the cerebrospinal fluid by polymerase chain reaction. She was diagnosed with Ramsay Hunt syndrome associated with spread to the central nervous system. Her facial palsy completely resolved within 48 hours of treatment with intravenous acyclovir 10 mg/kg every 8 hours. However, cerebellar symptoms did not improve until a tapering course of steroid therapy was initiated. PMID:27366189

  7. A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

    OpenAIRE

    Da Silva Rios, Salete; Monteiro, Isabella Christina Mazzaro; Braz dos Santos, Larissa Gonçalves; Caldas, Natasha Garcia; Chen, Ana Carolina Rios; Chen, Juliana Rios; Silva, Helena Spindola Camargo

    2015-01-01

    Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the ...

  8. A postmenopausal woman presenting with Ekbom syndrome associated with recurrent depressive disorder: a case report

    OpenAIRE

    Mahler, Courtney; MacQueen, Glenda; Samaan, Zainab

    2008-01-01

    Background Ekbom syndrome is a rare psychiatric disorder that can manifest as a delusion, overvalued idea or hallucination of parasitic infestations. It is more prevalent in postmenopausal women and patients are usually seeking dermatology rather than psychiatry consultation for their symptoms. Case presentation We present a case of Ekbom syndrome associated with recurrent depressive disorder in an elderly patient. The patient presented with tactile hallucinations of insects crawling just und...

  9. Evaluation of prophilaxis of dry eye syndrome associated with soft contact lenses

    Directory of Open Access Journals (Sweden)

    Erkin Bilalov

    2013-12-01

    Full Text Available The purpose of the paper was to investigate the possibilities of dry eye syndrome prevention associated with soft contact lenses wearing. The algorithm of dry eye syndrome diagnostics and soft contact lenses selection has been developed based on the results of this work. The research showed that “Slezol Forte” is highly effective in the prevention of dry eye syndrome associated with wearing of soft contact lenses.

  10. Modified Calgary score in differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope in children.

    Science.gov (United States)

    Yang, Jinyan; Zhu, Lulu; Chen, Stella; Li, Xueying; Zhang, Qingyou; Zhang, Fengwen; Chen, Li; Tang, Chaoshu; Du, Junbao; Jin, Hongfang

    2013-06-01

    The present study was designed to analyse the usefulness of a modified Calgary score system during differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope through a large sample sized clinical investigation. The study included 213 children, including 101 boys and 112 girls, with cardiac syncope or postural orthostatic tachycardia syndrome-associated syncope in the age group of 2-19 years (mean 11.8 ± 2.9 years). A modified Calgary score was created, which was analysed to predict differential diagnoses between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope using a receiver operating characteristic curve. The median of modified Calgary scores for cardiac syncope was -5.0, which significantly differed from that of postural orthostatic tachycardia syndrome (0.0; p postural orthostatic tachycardia syndrome-associated syncope in the clinic.

  11. Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

    OpenAIRE

    Saeed, Muhammad; Anwar ul HAQ; Khaqan QADIR

    2014-01-01

    How to Cite This Article: Saeed M, Haq A, Qadir Kh.Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. Iran J Child Neurol. 2014 Autumn;8(4): 76-79.AbstractObjectiveBart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized...

  12. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report

    Science.gov (United States)

    Abidi, Kamel; Jellouli, Manel; Rabeh, Rania Ben; Hammi, Yousra; Gargah, Tahar

    2015-01-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome. PMID:26958139

  13. A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

    Science.gov (United States)

    Suzuki-Muromoto, Sato; Hino-Fukuyo, Naomi; Haginoya, Kazuhiro; Kikuchi, Atsuo; Sato, Hiroki; Sato, Yuko; Nakayama, Tojo; Kubota, Yuki; Kakisaka, Yosuke; Uematsu, Mitsugu; Kumabe, Toshihiro; Md, Shigeo Kure

    2016-02-01

    We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16 years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24 years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome. PMID:26365017

  14. Hypopituitarism and diabetes insipidus with localized hypertrophic pachymeningitis (Tolosa-Hunt syndrome) associated with Hashimoto thyroiditis.

    Science.gov (United States)

    Yamakita, Noriyoshi; Hanamoto, Takayuki; Muraoka, Noriaki; Ikeda, Tsuneko; Hirata, Toshifumi; Yasuda, Keigo; Sano, Toshiaki

    2004-01-01

    We report a 69-year-old woman with intracranial pachymeningitis showing hypopituitarism, diabetes insipidus, and Tolosa-Hunt syndrome associated with Hashimoto thyroiditis confirmed by autopsy. A large tumorous lesion of the hypothalamo-pituitary gland was revealed on magnetic resonance imaging, after the patient complained of gait and visual field disturbance. These symptoms subsided after thyroid hormone supplementation. Hypopituitarism and diabetes insipidus were diagnosed after cessation of the treatment by the patient herself. Multiple cranial nerve palsies and orbito-frontalgia appeared. Methylprednisolone pulse therapy improved the symptoms, but they recurred when the dose of glucocorticoid was decreased. The patient died of brain thrombosis. Autopsy revealed typical findings of Hashimoto thyroiditis and intracranial pachymeningitis involving the cranial base and pituitary gland. The high titer of rheumatoid factor and Hashimoto thyroiditis in this patient suggest an immunological role in the pathogenesis of pachymeningitis. PMID:14722395

  15. Sweet syndrome associated with myelodysplastic syndrome: report of a case. Review of the literature.

    Science.gov (United States)

    Reina, Delia; Cerdà, Dacia; Roig, Daniel; Fíguls, Ramon; Villegas, M Luz; Corominas, Hèctor

    2013-01-01

    Sweet's syndrome or acute neutrophilic febrile dermatosis is a systemic disease of unknown etiology characterized by the appearance of skin lesions produced by a neutrophilic dermal infiltrate, fever and peripheral leukocytosis. It may be associated with hematologic diseases, including leukemia, with immune diseases as rheumatoid arthritis, or can occur in isolation. The myelodysplasias are hematological disorders characterized by one or more cytopenias secondary to bone marrow dysfunction. We present the case of a patient with Sweet's syndrome associated with myelodysplastic syndrome and treated with glucocorticoids who did not present a good clinical outcome. We discuss the different treatment of these diseases because in most cases glucocorticoids, which are the treatment of choice in Sweet's syndrome, may be insufficient.

  16. Syndromes associated with children exposure to mycotoxins and health risk assessment to multiple mycotoxins in infant foods

    OpenAIRE

    Alvito, Paula; Carla MARTINS; Assunção, Ricardo; Pires, M.J.; Calhau, Maria Antónia

    2015-01-01

    1. Children health and mycotoxins; 2. Routes of exposure; 3. Syndromes Syndromes associated associated with children children exposure exposure to mycotoxins: to mycotoxins: ingestion and inhalation; 4. Health risk assessment to multiple mycotoxins in infant foods -MYCOMIX project (PTDC/DTP-FTO/0417/2012); 5. Critical role of health professionals

  17. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease.

    Science.gov (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod

    2016-01-01

    Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died. PMID:27019694

  18. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease.

    Science.gov (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod

    2016-01-01

    Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.

  19. Supraventricular tachycardia in a patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hayano, M; Imamura, Y; Tsuruta, M; Inoue, J; Nakashima, H; Fukuyama, K; Eguchi, Y; Tsuji, S; Matsuo, S; Yano, K

    1988-03-01

    Electrophysiologic study of a 55-year-old patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy is reported. The patient had a history of recurrent attacks of tachyarrhythmia and his electrocardiogram showed a short P-R interval (0.10 sec) with narrow QRS complex and left ventricular hypertrophy with giant negative T waves. His cineangiogram showed severe apical hypertrophy. An electrophysiologic study was performed. The results of programmed atrial pacing show the existence of the dual A-V nodal pathways. The A-H interval at rapid atrial pacing increased maximally by 103 msec. Atrial stimulation could depolarize parts of the atrium without altering the supraventricular tachycardia. These findings suggested that preferential rapidly conducting A-V nodal and intranodal reentry are the responsible mechanisms in this reciprocating tachycardia. We conclude that the short P-R interval was due to intranodal reentry through the dual A-V nodal pathways. To our knowledge, a case of Lown-Ganong-Levine syndrome with apical hypertrophic cardiomyopathy has not been previously described in the literature.

  20. Persistent Hiccups—An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report

    Directory of Open Access Journals (Sweden)

    Nitin Aherrao

    2012-01-01

    Full Text Available Pheochromocytoma is a rare catecholamine-producing tumor arising from chromaffin tissue in the adrenal medulla, occurring in less than 0.2 percent of patients with hypertension. The mean age at diagnosis is about 40 years. Pheochromocytomas are commonly inherited as features of multiple endocrine neoplasia type 2 or several other pheochromocytoma-associated syndromes and have variable clinical presentation. Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad. We report a case of a 17-year-old male patient with rare bilateral pheochromocytoma presenting with persistent hiccups for 4 months and blurring of vision for 1 week, later followed by hypertensive crisis. There was neither family history of pheochromocytoma nor any classic symptoms. Patient was diagnosed with bilateral pheochromocytoma without any syndromic association. But still this patient needs to be followed for future development of medullary carcinoma of thyroid because it could be an initial presentation of MEN 2A/2B/VHL syndromes. Our paper highlights the importance of maintaining a high level of suspicion for persistent hiccups and careful clinical screening for hypertension even in absence of associated syndromes of pheochromocytoma and classical symptoms to achieve prompt diagnosis and to avoid improper management.

  1. Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

    Directory of Open Access Journals (Sweden)

    Muhammad SAEED*

    2014-12-01

    Full Text Available How to Cite This Article: Saeed M, Haq A, Qadir Kh.Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. Iran J Child Neurol. 2014 Autumn;8(4: 76-79.AbstractObjectiveBart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet.We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis.ReferencesBart BJ, Garlin RJ, Anderson VE, Lynch FW. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966; 93: 296-304.Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol 1970; 101: 78-81.Skoven I, Drzewiecki KT. Congenital localized skin defect and epidermolysis bullosa hereditaria letalis. Acta Derm Venereol 1979; 59: 533-537.Wojnarowska FT, Eady RA, Wells RS. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases. Br J Dermatol 1983; 108: 477-483.Kanzler MH, Smoller B, Woodley DT. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa. Arch Dermatol 1992; 128:1087-90.Maman E, Maor E, Kachko L, Carmi R. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. Am J Med Genet 1998; 78: 127-133.McCarthy MA, Clarke T, Powell FC. Epidermolysis bullosa and aplasia cutis. Int J Derm 1991; 30: 481-484.Puvabanditsin S, Garrow E, Daeun K

  2. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    Directory of Open Access Journals (Sweden)

    N. A. Ermolaenko

    2014-01-01

    Full Text Available Benign focal epileptiform discharge of childhood (BFEDC is an age-dependent pattern determined in electroencephalograms (EEGs, which is associated with idiopathic benign focal epilepsy (BFE. Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g., cause epileptic encephalophathies. Objective. To determine the clinical and neurophysiological features of epileptic syndromes associated with prolonged epileptiform activity during sleep in children and adolescents, as well as approaches to rational therapy. Patients and Methods. A total of 1862 children aged 2–18 admitted to the specialized Department of Psychoneurology of the Voronezh Regional Children Clinical Hospital No 1 in 2004–2007, who had epileptic seizures and non-epileptic neurological disorders, were exam- ined. The children underwent assessment of the neurological status, neuropsychological assessment, and video-EEG monitoring. The spike- wave index (SWI was calculated and magnetic resonance imaging (MRI of the brain was performed to register the epileptiform activity during sleep. Results and Discussion. It was demonstrated that when ISW of BFEDC patterns is >30%, evolution into epileptic encephalopathy was observed in 66% of patients (including epilepsy with electrical status epilepticus in sleep in 49% of patients and cognitive epileptiform disinte- gration in 17% of patients. The results prove the justification of prescribing antiepileptic drugs to patients with SWI ≥30% even if they have no epileptic seizures. Duo-therapy with valproate and ethosuximide or levetiracetam is most the effective therapy. Further prospective studies for children with BFEDC will give new insight into this area. 

  3. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus

    Science.gov (United States)

    Saroj, Gyanendra; Gangwar, Anshul

    2016-01-01

    ABSTRACT Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162

  4. Síndrome de Sweet asociado a neoplasias Sweet's syndrome associated with neoplasms

    Directory of Open Access Journals (Sweden)

    Mariana Franco

    2006-10-01

    : idiopathic, parainflammatory, paraneoplastic, drug-induced, and pregnancy-related. Twenty percent of cases are associated with malignancies; 85% out of them involve hematologic alignancies and the remaining 15%, solid tumors. A series of seven cases of Sweet's syndrome associated with neoplasms which were diagnosed from 2002 to 2006 is presented. Six cases were related to oncohematologic diseases and one to solid tumors. These results highlight the importance of the diagnosis of the syndrome, since it may predict tumor relapse or underlying disease progression. The timely use of diagnostic and treatment methods may improve the quality of life of these patients. The fact that oncology patients take multiple medications (a colony-stimulating factor which may be associated with the onset of this entity must also be considered in excluding possible causes.

  5. EURO-WABB

    DEFF Research Database (Denmark)

    Farmer, Amy; Aymé, Ségolène; de Heredia, Miguel Lopez;

    2013-01-01

    Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well charact...

  6. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2016-08-31

    Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

  7. Assembly of primary cilia

    DEFF Research Database (Denmark)

    Pedersen, Lotte B; Veland, Iben R; Schrøder, Jacob M;

    2008-01-01

    in primary cilia assembly or function have been associated with a panoply of disorders and diseases, including polycystic kidney disease, left-right asymmetry defects, hydrocephalus, and Bardet Biedl Syndrome. Here we provide an up-to-date review focused on the molecular mechanisms involved in the assembly...

  8. AcEST: DK956766 [AcEST

    Lifescience Database Archive (English)

    Full Text Available 4|BBS4_HUMAN Bardet-Biedl syndrome 4 protein OS=Homo sap... 35 0.32 sp|A7TZE6|SKIT1_MOUSE Selection and upke...SVLGELDKAEEN 343 Y LG KA E+ Sbjct: 212 YLQLGIYQKAFEH 224 >sp|A7TZE6|SKIT1_MOUSE Selection and upkeep of intr

  9. Genetics Home Reference: retinitis pigmentosa

    Science.gov (United States)

    ... by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome ; Refsum disease ; and neuropathy, ... for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The ...

  10. Membranous glomerulonephropathy and nephrotic syndrome associated with iatrogenic metallic mercury poisoning in a cat.

    Science.gov (United States)

    Shull, R M; Stowe, C M; Osborne, C A; O'Leary, T P; Vernier, R L; Hammer, R F

    1981-02-01

    The nephrotic syndrome, characterized by nonselective proteinuria, hypoproteinemia, hypoalbuminemia, and ascites, was observed in a 10-month-old male cat. Profound glomerular changes and renal tubular changes appear to have been induced by iatrogenic chronic exposure to metallic mercury originally contained in a rectal thermometer. Large concentrations of mercury were present in the kidneys, liver, spleen, and urine. Evaluation of glomeruli by immunofluorescent microscopy revealed interrupted granular deposition of immuno-globulin G and the third component of complement in glomerular capillary walls and the mesangium. Electron microscopic evaluation of glomeruli revealed diffuse alterations in glomerular basement membranes and visceral epithelial cells. Small electron dense deposits were observed in capillary walls, but they were not characteristic of immune complexes. The mechanism(s) responsible for the mercury induced glomerulonephropathy in this patient could not be determined on the basis of available data. PMID:7257162

  11. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    Directory of Open Access Journals (Sweden)

    Buket Uysal Aladag

    2013-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

  12. The Fowler syndrome-associated protein FLVCR2 is an importer of heme.

    Science.gov (United States)

    Duffy, Simon P; Shing, Jennifer; Saraon, Punit; Berger, Lloyd C; Eiden, Maribeth V; Wilde, Andrew; Tailor, Chetankumar S

    2010-11-01

    Mutations in FLVCR2, a cell surface protein related by homology and membrane topology to the heme exporter/retroviral receptor FLVCR1, have recently been associated with Fowler syndrome, a vascular disorder of the brain. We previously identified FLVCR2 to function as a receptor for FY981 feline leukemia virus (FeLV). However, the cellular function of FLVCR2 remains unresolved. Here, we report the cellular function of FLVCR2 as an importer of heme, based on the following observations. First, FLVCR2 binds to hemin-conjugated agarose, and binding is competed by free hemin. Second, mammalian cells and Xenopus laevis oocytes expressing FLVCR2 display enhanced heme uptake. Third, heme import is reduced after the expression of FLVCR2-specific small interfering RNA (siRNA) or after the binding of the FY981 FeLV envelope protein to the FLVCR2 receptor. Finally, cells overexpressing FLVCR2 are more sensitive to heme toxicity, a finding most likely attributable to enhanced heme uptake. Tissue expression analysis indicates that FLVCR2 is expressed in a broad range of human tissues, including liver, placenta, brain, and kidney. The identification of a cellular function for FLVCR2 will have important implications in elucidating the pathogenic mechanisms of Fowler syndrome and of phenotypically associated disorders.

  13. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Emoke Horvath

    2016-02-01

    Full Text Available Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient’s case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.

  14. Miller-Dieker syndrome associated with duplication of 17p13.3 confirmed by fluorescence in situ hybridization (FISH)

    Energy Technology Data Exchange (ETDEWEB)

    Li, S.; Tuck-Muller, C.M.; Martinez, J.E. [Univ. of South Alabama, Mobile, AL (United States)] [and others

    1994-09-01

    Miller-Dieker syndrome is characterized by profound mental retardation, craniofacial abnormalities, and lissencephaly (smooth brain). Microscopic or submicroscopic deletions of the 17p13.3 region have been reported in Miller-Dieker patients. We report a patient with this syndrome in whom a duplication of the 17p13.3 region was detected by FISH. The 9-year-old female proband was referred because of features of Miller-Dieker syndrome: microcephaly, profound psychomotor retardation, seizures, characteristic facies, and lissencephaly shown by MRI studies. High-resolution G-banding failed to demonstrate an abnormality in chromosome 17. However, FISH analysis with the DNA probe (Oncor No. 5101) specific for Miller-Dieker region of chromosome 17p13.3 demonstrated duplication of this segment instead of the classic deletion. We know of no other report of Miller-Dieker syndrome associated with duplication of 17p13.3. The family study revealed normal chromosomes in both parents by cytogenetic and FISH analysis. Our investigation suggests that duplications, as well as deletions, of the 17p13.3 region are associated with the Miller-Dieker syndrome. The presence of deletions or duplications of the same chromosomal region in patients with features of Miller-Dieker syndrome suggests that its pathogenesis may be due to gene dosage effects.

  15. Hemophagocytic Syndrome Associated with Immune Reconstitution Inflammatory Syndrome in a Patient with AIDS Related Burkitt’s Leukemia/Lymphoma

    Directory of Open Access Journals (Sweden)

    Metin Kanıtez

    2014-01-01

    Full Text Available Highly active antiretroviral therapy (HAART has markedly decreased human immunodeficiency virus- (HIV- related mortality and the incidence of opportunistic infections. The dramatic reduction in HIV-1 RNA and increase in CD4 lymphocyte count mean a recovery in immune function. This restoration in immune function may be associated with paradoxical deterioration in subclinical opportunistic infections in some patients, a condition called immune reconstitution inflammatory syndrome (IRIS. IRIS, a “paradoxical” inflammatory response to either previously treated or subclinical infections or noninfectious diseases, can manifest during the restoration phase of immunity hemophagocytic syndrome (HS which is a very rare complication in patients with acquired immune deficiency syndrome (AIDS. We describe a case of hemophagocytic syndrome associated with IRIS in a patient with AIDS related Burkitt’s leukemia/lymphoma (BL. IRIS was probably the cause of hemophagocytosis for our patient. Zoster infection may facilitate to IRIS. With the increasing number of people with HIV infection and the accompanying use of HAART, much more clinical manifestations of IRIS will be experienced especially in patients given high dose chemotherapy, just like in our case.

  16. Linguistic rehabilitation nursing of pregnancy induced hypertension syndrome associated with cerebral hemorrhage%妊娠高血压综合征并发脑出血的语言康复护理

    Institute of Scientific and Technical Information of China (English)

    刘焕美; 石文利

    2003-01-01

    @@ BACKGROUND:Pregnancy induced hypertension syndrome associated with cerebral hemorrhage is the common cause of obstetric death and even emergency treatment succeeds,living quality is affected because of lalopathy.

  17. Síndrome serotoninérgica associada ao uso de paroxetina: relato de caso Serotonin syndrome associated to the use of paroxetine: case report

    OpenAIRE

    LUÍS OTÁVIO CAVALLAZZI; ANDERSON K. GREZESIUK

    1999-01-01

    Relatamos um caso de síndrome serotoninérgica pelo uso de inibidor da recaptação da serotonina, a paroxetina. Tal síndrome por esta droga, sem combinações, ainda não tinha sido descrita na literatura.We report on a case of serotonin syndrome associated to the use of the paroxetine, a serotonin reuptake inhibitor drug. Serotonin syndrome related to this drug not combined with other drugs had not yet been described in literature.

  18. Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes.

    Science.gov (United States)

    Dean, Samuel; Moreira-Leite, Flavia; Varga, Vladimir; Gull, Keith

    2016-08-30

    The transition zone (TZ) of eukaryotic cilia and flagella is a structural intermediate between the basal body and the axoneme that regulates ciliary traffic. Mutations in genes encoding TZ proteins (TZPs) cause human inherited diseases (ciliopathies). Here, we use the trypanosome to identify TZ components and localize them to TZ subdomains, showing that the Bardet-Biedl syndrome complex (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex. Several of the TZPs identified here have human orthologs. Functional analysis shows essential roles for TZPs in motility, in building the axoneme central pair apparatus and in flagellum biogenesis. Analysis using RNAi and HaloTag fusion protein approaches reveals that most TZPs (including the MKS ciliopathy complex) show long-term stable association with the TZ, whereas the BBSome is dynamic. We propose that some Bardet-Biedl syndrome and MKS pleiotropy may be caused by mutations that impact TZP complex dynamics. PMID:27519801

  19. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2016-03-21

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  20. Sensory Ciliogenesis in Caenorhabditis elegans: Assignment of IFT Components into Distinct Modules Based on Transport and Phenotypic Profiles

    OpenAIRE

    Ou, Guangshuo; Koga, Makato; Oliver E Blacque; Murayama, Takashi; Ohshima, Yasumi; Schafer, Jenny C.; LI, Chunmei; Yoder, Bradley K.; Leroux, Michel R.; Scholey, Jonathan M.

    2007-01-01

    Sensory cilium biogenesis within Caenorhabditis elegans neurons depends on the kinesin-2–dependent intraflagellar transport (IFT) of ciliary precursors associated with IFT particles to the axoneme tip. Here we analyzed the molecular organization of the IFT machinery by comparing the in vivo transport and phenotypic profiles of multiple proteins involved in IFT and ciliogenesis. Based on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classified into grou...

  1. Clinicopathologic features of Turcot syndrome associated with intestinal Burkitt lymphoma%Turcot综合征合并肠道Burkitt淋巴瘤的临床病理观察

    Institute of Scientific and Technical Information of China (English)

    张淑红; 朱红; 周小鸽; 郑媛媛; 张彦宁; 陈光勇

    2012-01-01

    Purpose To investigate the clinicopathologic characteristics of Turcot syndrome associated with intestinal Burkitt lymphoma. Methods One case of Turcot syndrome associated with intestinal Burkitt lymphoma was examined by microscopy and immunohistochemical staining, together with review of the literatures. Results The patient underwent three operations; the first pathological diagnosis was multiple tubulovillous adenomas of colon, the second was anaplastic astrocytoma of brain, and the third was multiple tubulovillous adenomas of colon associated with colonic Burkitt lymphoma. Conclusion Based on clinicopathologic characteristics, diagnosis of Turcot syndrome is relatively easy, but its association with lymphoma is very rare. Relationships between Turcol syndrome and lymphoma need further studies.%目的 探讨Turcot综合征合并肠道Burkitt淋巴瘤的临床病理特征.方法 对1例Turcot综合征合并肠道Burkitt淋巴瘤进行光镜观察及免疫组化标记,并结合文献进行分析.结果 患者先后行3次手术.第1次手术病理诊断为结肠多发性绒毛管状腺瘤;第2次手术病理诊断为脑间变性星形细胞瘤;第3次手术病理诊断为结肠多发性绒毛管状腺瘤及结肠Burkitt淋巴瘤.结论 依靠临床病理特点,Turcot综合征的诊断相对容易,但其合并淋巴瘤十分罕见.二者之间是否存在一定的关系尚需进一步研究.

  2. Pyoderma Gangrenosum: A Paraneoplastic Syndrome Associated with Occult Colorectal Malignancy? Report of A Case and Review of Literature

    Directory of Open Access Journals (Sweden)

    Khalid Ahmed

    2015-12-01

    Case Report: A 74-year-old patient presented to the emergency department with central abdominal pain and vomiting for 24 hours. Recently, the patient was worked up for iron deficiency anemia and was due to have colonoscopy. She was also discovered to have multiple skin lesions on her left hand, which were ulcerated, erythematous, indurated, and thick with scaly plaque. Initially the differential diagnosis included: neutrophilic dermatosis, atypical mycoblastosis or mycosis. Skin biopsy revealed PG. The skin lesion did not respond to high-dose systemic steroids. Two months later during presentation to the emergency department with abdominal pain, abdominal and pelvic CT showed proximal sigmoid colon mass with nodular extension probably involving adjacent small bowel loops but no liver metastasis. Colonoscopy showed stenosing sigmoid mass, which was confirmed by biopsy to be adenocarcinoma. Laparotomy with resection of the sigmoid, upper part of the rectum, and a short segment of the involved small bowel was performed. Histology confirmed adenocarcinoma of the sigmoid (T4N0Mx. The skin lesions healed spontaneously following surgery. Conclusion: Early treatment of CRC can enhance the outcome of patients with PG, which may point toward a related pathological process. Furthermore, PG may be an important predictor of CRC. We advise on detailed gastrointestinal tract GIT investigation for unresponsive PG. [Arch Clin Exp Surg 2015; 4(4.000: 226-230

  3. Anti-radiation vaccine: Immunologically-based Prophylaxis of Acute Toxic Radiation Syndromes Associated with Long-term Space Flight

    Science.gov (United States)

    Popov, Dmitri; Maliev, Vecheslav; Jones, Jeffrey; Casey, Rachael C.

    2007-01-01

    Protecting crew from ionizing radiation is a key life sciences problem for long-duration space missions. The three major sources/types of radiation are found in space: galactic cosmic rays, trapped Van Allen belt radiation, and solar particle events. All present varying degrees of hazard to crews; however, exposure to high doses of any of these types of radiation ultimately induce both acute and long-term biological effects. High doses of space radiation can lead to the development of toxicity associated with the acute radiation syndrome (ARS) which could have significant mission impact, and even render the crew incapable of performing flight duties. The creation of efficient radiation protection technologies is considered an important target in space radiobiology, immunology, biochemistry and pharmacology. Two major mechanisms of cellular, organelle, and molecular destruction as a result of radiation exposure have been identified: 1) damage induced directly by incident radiation on the macromolecules they encounter and 2) radiolysis of water and generation of secondary free radicals and reactive oxygen species (ROS), which induce chemical bond breakage, molecular substitutions, and damage to biological molecules and membranes. Free-radical scavengers and antioxidants, which neutralize the damaging activities of ROS, are effective in reducing the impact of small to moderate doses of radiation. In the case of high doses of radiation, antioxidants alone may be inadequate as a radioprotective therapy. However, it remains a valuable component of a more holistic strategy of prophylaxis and therapy. High doses of radiation directly damage biological molecules and modify chemical bond, resulting in the main pathological processes that drive the development of acute radiation syndromes (ARS). Which of two types of radiation-induced cellular lethality that ultimately develops, apoptosis or necrosis, depends on the spectrum of incident radiation, dose, dose rate, and

  4. [General Anesthesia Using Remifentanil for Cesarean Section in a Parturient with Marfan Syndrome Associated with Heart Failure due to Severe Mitral Regurgitation].

    Science.gov (United States)

    Fujita, Masahide; Satsumae, Tsuyoshi; Tanaka, Makoto

    2016-05-01

    A 24-year-old woman with Marfan syndrome was scheduled for cesarean section in order to avoid progression of heart failure due to severe mitral regurgitation and aortic dissection during labor. Cesarean section was performed under general anesthesia using remifentanil. Anesthesia was induced and maintained with remifentanil (0.1-0.3 μg x kg(-1) x min(-1)) and continuous administration of propofol (target-controlled infusion, 2-3 ng x ml(-1)). The trachea was intubated without a significant hemodynamic change. The patient's systolic blood pressure was maintained between 90 and 120 mmHg during surgery. Intraoperatively, we conducted a transesophageal echocardiography examination, and no remarkable change was seen in the severity of mitral regurgitation and the size of an ascending aorta. An infant was delivered 6 minutes after anesthesia induction. The Apgar scores were 4 at 1 min, 5 at 5 min and 8 at 10 min. Postoperative course was uneventful. We conclude that remifentanil can be used successfully to manage cesarean section of a parturient with Marfan syndrome associated with heart failure due to severe mitral regurgitation under general anesthesia. PMID:27319100

  5. DYRK1A, a novel determinant of the methionine-homocysteine cycle in different mouse models overexpressing this Down-syndrome-associated kinase.

    Directory of Open Access Journals (Sweden)

    Christophe Noll

    Full Text Available BACKGROUND: Hyperhomocysteinemia, characterized by increased plasma homocysteine level, is associated with an increased risk of atherosclerosis. On the contrary, patients with Down syndrome appear to be protected from the development of atherosclerosis. We previously found a deleterious effect of hyperhomocysteinemia on expression of DYRK1A, a Down-syndrome-associated kinase. As increased expression of DYRK1A and low plasma homocysteine level have been associated with Down syndrome, we aimed to analyze the effect of its over-expression on homocysteine metabolism in mice. METHODOLOGY/PRINCIPAL FINDINGS: Effects of DYRK1A over-expression were examined by biochemical analysis of methionine metabolites, real-time quantitative reverse-transcription polymerase chain reaction, and enzyme activities. We found that over-expression of Dyrk1a increased the hepatic NAD(PH:quinone oxidoreductase and S-adenosylhomocysteine hydrolase activities, concomitant with decreased level of plasma homocysteine in three mice models overexpressing Dyrk1a. Moreover, these effects were abolished by treatment with harmine, the most potent and specific inhibitor of Dyrk1a. The increased NAD(PH:quinone oxidoreductase and S-adenosylhomocysteine hydrolase activities were also found in lymphoblastoid cell lines from patients with Down syndrome. CONCLUSIONS/SIGNIFICANCE: Our results might give clues to understand the protective effect of Down syndrome against vascular defect through a decrease of homocysteine level by DYRK1A over-expression. They reveal a link between the Dyrk1a signaling pathway and the homocysteine cycle.

  6. Prader-Willi Syndrome Association

    Science.gov (United States)

    ... on 4th of July Oxytocin Match! HOT TOPICS Oxytocin Initiative: A Phase 2 Study in Prader-Willi ... their endeavor to gain FDA approval to make oxytocin a standard of care for Prader-Willi syndrome ( ...

  7. [Nephrotic syndrome associated with ampulloma].

    Science.gov (United States)

    López-Navidad, A; Colomina, J; Domingo, P; Franco, M; Algaba, F

    1989-06-01

    A patient is reported who presented simultaneously classic nephrotic syndrome and adenocarcinoma of the Vater ampulla. Morphological study of the renal biopsy revealed changes characteristic of membranous glomerulonephritis and subepithelial deposits. These deposits stained specifically for IgG and C'3 with a granular pattern, but deposits of CEA-antiCEA immune complexes were not found in glomerular capillaries. The association of nephrotic syndrome with lymphoproliferative diseases and a large variety of solid tumors, like carcinoma of the breast, bronchogenic, colon and stomach has been communicated, but the present case constitutes the first known association with adenocarcinoma of the Vater ampulla. PMID:2772382

  8. Alagille Syndrome Associated with Xerophthalmia

    Directory of Open Access Journals (Sweden)

    Elad Moisseiev

    2013-12-01

    Full Text Available Purpose: To report the occurrence of xerophthalmia and keratomalacia in a patient with Alagille syndrome. Methods: The patient's record and relevant literature were reviewed. Results: A 3-year-old boy with Alagille syndrome was examined at our institution due to severe bilateral ocular irritation. A corneal ulcer and keratomalacia were found in the right eye and severe dryness with corneal opacification was found in the left eye. He was treated with topical fortified antibiotics in the right eye, followed by amniotic membrane transplantation. Due to his systemic condition, characterized by severe cholestasis and intestinal malabsorption, a suspicion of vitamin A deficiency was raised and was later confirmed in serum analysis. Conclusion: This is the first report of xerophthalmia in a patient with Alagille syndrome. Vitamin A deficiency leading to xerophthalmia is common in developing countries; however, its occurrence in the West is rare, leading to a reduced awareness of this disorder amongst clinicians. Unusual eating habits, intestinal malabsorption and liver disease are possible causes for such a deficiency. The purpose of this case report is to raise awareness to the possibility of vitamin A deficiency in children with keratopathy, especially when associated with these disorders.

  9. Sweet syndrome associated with interferon

    OpenAIRE

    Rodriguez-Lojo, Romina; Castineiras, Iria; Juarez, Yolanda; Lueiro, Mercedes; Armesto, Ana; Fernandez-Diaz, M. Luisa

    2015-01-01

    Although still very rare, drug-related cases of Sweet’s syndrome have been reported. The more frequent associated medications with drug induced Sweet´s syndrome was: tetracyclines, trimethoprim-sulphamethaxazol, azatioprine, all trans retinoic acid, nitrofurantoin, granulocyte colony-stimulating factor, hydralazine, tripharil, lithium, oral contraceptives, furosemide, celecoxib and azathioprine. We only found one case of drug-induced Sweet´s syndrome secondary to pegylated interferon...

  10. Waardenburg syndrome associated with laryngomalacia.

    Science.gov (United States)

    Thapa, R; Mallick, D; Ghosh, A; Ghosh, A

    2009-12-01

    Waardenburg syndrome (WS) is a rare autosomal dominant condition characterised by sensorineural hearing loss, in conjunction with pigmentary abnormalities and defects of the neural crest-derived tissues. Depending on the additional phenotypic characteristics, WS is classified into four types, viz. WS1, WS2, WS3 and WS4. We report a 45-day-old male infant with WS1, who presented with inspiratory stridor associated with difficulty in respiration. Direct flexible laryngoscopic examination during evaluation confirmed laryngomalacia as the cause of the symptoms. The baby was managed conservatively and was discharged with appropriate advice to the mother, including the need for evaluation at regular intervals. There was gradual improvement in his symptoms, and by one year of age, he was completely symptom free. To our knowledge, laryngomalacia as a part of WS has not been documented to date in the English literature. We also briefly discussed the probable embryological basis for the observed association. PMID:20087539

  11. Síndrome de Brown bilateral associada com hipermobilidade articular benigna: relato de caso Bilateral Brown's syndrome associated with benign joint hypermobility: a case report

    Directory of Open Access Journals (Sweden)

    David Kirsch

    2007-03-01

    this case the authors describe a case of Brown's syndrome associated with Benign joint hipermobility and call attention to a little described association in the literature. J.C.S, male, 6 years old, mulatto, student, was referred to the University of Santo Amaro with complaint of exotropia for 2 years that it increased in supraversion. The patient with the diagnosis of bilateral Brown's syndrome, was diagnosed as having benign joint hipermobility by the reumatologist. The patient with benign joint hipermobility can develop symptoms such as arthralgia caused by a joint inflammation. We believe in the possibility that Brown syndrome has occurred, caused by an inflammatory process in the trochlea that started because of the benign joint hypermobility.

  12. Retroperitoneal liposarcoma associated with small plaque parapsoriasis

    Directory of Open Access Journals (Sweden)

    Polichetti Paolo

    2007-07-01

    Full Text Available Abstract Background Extremely rare cases of paraneoplastic syndromes or ectopic production of proteins associated with liposarcoma are reported in literature. Production of Granulocyte-Colony Stimulating Factor, alpha-fetoprotein, paraneoplastic pemphigus and leucocytosis, Acrokeratosis paraneoplastica (Bazex's syndrome are reported. The present report describes a case of retroperitoneal liposarcoma associated with small plaque parapsoriasis. Our search in the English literature of such a kind of association did not reveal any case reported. Case presentation A 74 year male patient was admitted to our hospital because of the presence of an abdominal mass in right iliac fossa. He also complained of a two-year history of psoriasiform eruptions. The CT scan showed a retroperitoneal pelvic mass. Therefore surgical resection of the tumor was performed. After surgery, the skin eruptions disappeared completely in seven days and so a diagnosis of parapsoriasis syndrome was done. Conclusion Parallel disappearing of skin eruptions after surgery, typical clinical picture and not specific histology of the cutaneous lesions suggest the diagnosis of small plaque parapsoriasis. Therefore we propose to add Small Plaque Parapsoriasis to the list of paraneoplastic syndromes associated to liposarcoma.

  13. Genetics of Obesity.

    Science.gov (United States)

    Srivastava, Apurva; Srivastava, Neena; Mittal, Balraj

    2016-10-01

    Numerous classical genetic studies have proved that genes are contributory factors for obesity. Genes are directly responsible for obesity associated disorders such as Bardet-Biedl and Prader-Willi syndromes. However, both genes as well as environment are associated with obesity in the general population. Genetic epidemiological approaches, particularly genome-wide association studies, have unraveled many genes which play important roles in human obesity. Elucidation of their biological functions can be very useful for understanding pathobiology of obesity. In the near future, further exploration of obesity genetics may help to develop useful diagnostic and predictive tests for obesity treatment. PMID:27605733

  14. Cyclooxygenase-2 Expression in Non-Small Cell Lung Cancer Correlates With Hypertrophic Osteoarthropathy.

    Science.gov (United States)

    Rotas, Ioannis; Cito, Giovanni; Letovanec, Igor; Christodoulou, Michel; Perentes, Jean Y

    2016-02-01

    Hypertrophic osteoarthrpathy (HO) is a rare paraneoplasic syndrome associated with non-small cell lung cancer (NSCLC). The pathophysiology of HO is unknown but was recently related to enhanced levels of urine prostaglandin E2 (PGE2). Here, we report the case of a patient that presented HO in association with a resectable left upper lobe NSCLC. Following surgery and adjuvant chemotherapy, HO resolved and did not recur with development of a brain metastasis 1 year later. Interestingly, tumor cyclooxygenase-2, an enzyme responsible the synthesis of PGE2, was expressed in the primary tumor but not in the resected metastasis. PMID:26777972

  15. 干燥综合征合并获得性Gitelman综合征二例并文献复习%Acquired Gitelman syndrome associated with primary Sj(o)gren syndrome: two cases report and review of literature

    Institute of Scientific and Technical Information of China (English)

    刘旭东; 刘海娜; 方芳; 田百玲; 杨娉婷; 肖卫国

    2012-01-01

    目的 提高对干燥综合征(SS)合并获得性Gitelman综合征的认识,了解其特点及治疗.方法 报告2例SS合并获得性Gitelman综合征病例的临床资料,并结合相关文献进行分析.结果 2例患者均为首次就诊的老年女性,临床以低钾血症及相关肌炎症状、肌酶学改变为特点入院.虽口干、眼干症状不典型,但查体及实验室等相关检查诊断SS明确,伴低血镁、代谢性碱中毒、高肾素-血管紧张素-醛固酮,且无高血压,符合Gitelman综合征改变,因此考虑为SS合并获得性Gitelman综合征.结论 在符合Gitelman综合征临床特点基础上,诊断应完善肾活检.SS患者合并的Gitelman综合征少见,其发生机制与SS的关系有待进一步探讨.%Objective To better understand the clinical features and the diagnosis of acquired Gitelman syndrome associated with primary Sj(o)gren syndrome (SS).Methods Two cases of acquired Gitelman syndrome associated with primary SS were investigated.Literature were reviewed.Results Two women with sicca complex presented to our clinic with intermittent muscle cramping and weakness involving both lower extremities for several months.Laboratory findings showed hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria,all these met the criteria for Gitelman syndrome.Diagnostic evaluation identified primary SS as the cause of the acquired Gitelman syndrome.Conclusion Acquired Gitelman syndrome associated with SS is rare.Kidney biopsy is necessary for the diagnosis of Gitelman syndrome.Further studies are needed.

  16. The retinal ciliopathies.

    Science.gov (United States)

    Adams, N A; Awadein, Ahmed; Toma, Hassanain S

    2007-09-01

    While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders. The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and Biemond syndrome. Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes. Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present. PMID:17896309

  17. Small Orbits

    CERN Document Server

    Borsten, L; Ferrara, S; Marrani, A; Rubens, W

    2012-01-01

    We study both the "large" and "small" U-duality charge orbits of extremal black holes appearing in D = 5 and D = 4 Maxwell-Einstein supergravity theories with symmetric scalar manifolds. We exploit a formalism based on cubic Jordan algebras and their associated Freudenthal triple systems, in order to derive the minimal charge representatives, their stabilizers and the associated "moduli spaces". After recalling N = 8 maximal supergravity, we consider N = 2 and N = 4 theories coupled to an arbitrary number of vector multiplets, as well as N = 2 magic, STU, ST^2 and T^3 models. While the STU model may be considered as part of the general N = 2 sequence, albeit with an additional triality symmetry, the ST^2 and T^3 models demand a separate treatment, since their representative Jordan algebras are Euclidean or only admit non-zero elements of rank 3, respectively. Finally, we also consider minimally coupled N = 2, matter coupled N = 3, and "pure" N = 5 theories.

  18. Validity and reliability of the Spanish version of the DN4 (Douleur Neuropathique 4 questions questionnaire for differential diagnosis of pain syndromes associated to a neuropathic or somatic component

    Directory of Open Access Journals (Sweden)

    Bouhassira Didier

    2007-12-01

    Full Text Available Abstract Background This study assesses the validity and reliability of the Spanish version of DN4 questionnaire as a tool for differential diagnosis of pain syndromes associated to a neuropathic (NP or somatic component (non-neuropathic pain, NNP. Methods A study was conducted consisting of two phases: cultural adaptation into the Spanish language by means of conceptual equivalence, including forward and backward translations in duplicate and cognitive debriefing, and testing of psychometric properties in patients with NP (peripheral, central and mixed and NNP. The analysis of psychometric properties included reliability (internal consistency, inter-rater agreement and test-retest reliability and validity (ROC curve analysis, agreement with the reference diagnosis and determination of sensitivity, specificity, and positive and negative predictive values in different subsamples according to type of NP. Results A sample of 164 subjects (99 women, 60.4%; age: 60.4 ± 16.0 years, 94 (57.3% with NP (36 with peripheral, 32 with central, and 26 with mixed pain and 70 with NNP was enrolled. The questionnaire was reliable [Cronbach's alpha coefficient: 0.71, inter-rater agreement coefficient: 0.80 (0.71–0.89, and test-retest intra-class correlation coefficient: 0.95 (0.92–0.97] and valid for a cut-off value ≥ 4 points, which was the best value to discriminate between NP and NNP subjects. Discussion This study, representing the first validation of the DN4 questionnaire into another language different than the original, not only supported its high discriminatory value for identification of neuropathic pain, but also provided supplemental psychometric validation (i.e. test-retest reliability, influence of educational level and pain intensity and showed its validity in mixed pain syndromes.

  19. Mosaic Turner syndrome associated with schizophrenia

    Science.gov (United States)

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop

    2014-01-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome. PMID:24926463

  20. Hemophagocytic Syndrome Associated with Mycoplasma pneumoniae Pneumonia

    Directory of Open Access Journals (Sweden)

    Yuji Koike

    2013-01-01

    Full Text Available Mycoplasma pneumoniae (Mp sometimes causes immunological complications in children. We present a rare case of hemophagocytic syndrome (HPS caused by Mp in a previously healthy 7-year-old Japanese girl. A chest radiograph obtained to evaluate the source of her fever showed infiltration in the lower right lung with mild splenomegaly. We could diagnose the patient with HPS on the basis of the hemophagocytic-lymphohistiocytosis- (HLH 2004 criteria. She met the criteria for fever, splenomegaly, neutrophil count (265 mg/dL, and ferritin level (>500 ng/mL. Furthermore, a peripheral blood smear showed an increased number of monocytes/macrophages with erythrophagocytosis. Treatment with clarithromycin and prednisolone, which was initiated soon after the diagnosis, was successful. Mp infection might partly progress to HPS in certain conditions. Clinicians should be aware of HPS caused by Mp and start appropriate treatment as soon as possible if the disease is suspected.

  1. Waardenburg's syndrome associated with total aganglionosis.

    OpenAIRE

    Farndon, P A; Bianchi, A.

    1983-01-01

    A Pakistani child of consanguineous parents had signs of Waardenburg's syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.

  2. Mosaic Turner syndrome associated with schizophrenia.

    Science.gov (United States)

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  3. Syndromes Associated with Sexually Transmitted Infections

    Directory of Open Access Journals (Sweden)

    Max Chernesky

    2005-01-01

    Full Text Available Excellent technologies have been developed to identify the specific microbial agents of chlamydia, gonorrhea, syphilis, herpes, chancroid, trichomoniasis, human papillomavirus and HIV infection. However, it is also crucial to recognize syndromes that may be caused by one or more sexually transmitted pathogens. When laboratory services are lacking or are inadequate to provide timely results to enable appropriate treatment, some patients must be managed and treated syndromically. Most Canadian laboratories should be able to provide diagnostic services to determine the etiology of syndromes such as cervicitis, urethritis, pelvic inflammatory disease, prostatitis, genital ulcers, sexually transmitted infection (STI-related enteric infections, epididymitis, hepatitis, ophthalmia neonatorum, vulvovaginitis and vaginosis.

  4. Posterior Reversible Leukoencephalopathy Syndrome Associated with Pazopanib

    Directory of Open Access Journals (Sweden)

    Robert Foerster

    2013-04-01

    Full Text Available A 62-year-old female patient with metastatic renal cell carcinoma under third-line treatment with pazopanib for 8 weeks suddenly developed severe headaches, grand mal seizures and paresis of the left arm in combination with gait instability as well as nausea and vomiting during her vacation abroad. The emergency physician measured systolic blood pressure values over 300 mm Hg and suspected a stroke. The CT imaging without contrast agent in a local hospital did not show any pathologic findings despite bone metastases. The colleagues suspected cerebral metastases or meningeosis carcinomatosa and referred the patient to our department for further diagnostics and treatment planning. An MRI scan ruled out the suspected cerebral metastases or meningeosis carcinomatosa, but showed signs of reversible posterior leukoencephalopathy syndrome (RPLS in the form of band-like hyperintensities as a sign of cytotoxic edema in the gray and white matter of the left parietal lobe. The patient then reported that similar blood pressure values had been measured shortly after the start of a first-line therapy with sunitinib, so that we discontinued the current treatment with pazopanib. Within 6 days the neurologic symptoms vanished and the patient was discharged. An intermittent hypertension persisted. A follow-up MRI 3 weeks later showed an RPLS-typical cortical infarction in the affected area. RPLS should be considered as the actual reason for neurologic findings in hypertensive patients with known metastatic cancers under tyrosine kinase inhibitor therapy.

  5. Mosaic Turner syndrome associated with schizophrenia

    OpenAIRE

    Jung, Sook Young; Park, Joo Won; Kim, Dong hyun; Jun, Yong Hoon; Lee, Jeong seop; Lee, Ji Eun

    2014-01-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HO...

  6. Turner Syndrome Associated with Ulcerative Colitis

    OpenAIRE

    Takaya, Junji; Teraguchi, Masayuki; Ikemoto, Yumiko; Yoshimura, Ken; Yamato, Fumiko; Higashino, Hirohiko; Kobayashi, Yohnosuke; Kaneko, Kazunari

    2006-01-01

    We report the case of a 7-yr-old girl with Turner syndrome, ulcerative colitis (UC) and coarctation of the aorta. The diagnosis of Turner syndrome was made in early infancy (karyotype analysis 45, X). Growth hormone treatment was started at 3 yr and 2 mo of age. From the age of 4 yr and 5 mo, the patient suffered from persistent diarrhea with traces of blood and intermittent abdominal discomfort. As these symptoms gradually deteriorated, she was referred to our clinic at the age of 7 yr for f...

  7. Parinaud's oculoglandular syndrome associated with Sporothrix schenckii

    Directory of Open Access Journals (Sweden)

    Cassio Porto Ferreira

    2014-01-01

    Full Text Available The Parinaud oculoglandular syndrome is a rare eye disease caused by different etiologic agents, including bacteria, viruses and fungi. It is characterized by a granulomatous conjunctivitis, accompanied by adjacent preauricular lymphadenopathy and can bring consequences if not treated promptly. We present a case of Parinaud oculoglandular syndrome caused by Sporothrix schenckii from the sporotrichosis epidemic in its zoonotic form occurring in Rio de Janeiro, Brazil.

  8. Parinaud's oculoglandular syndrome associated with Sporothrix schenckii.

    Science.gov (United States)

    Ferreira, Cassio Porto; Nery, José Augusto daCosta; de Almeida, Ana Cristina Oliveira; Ferreira, Luiz Cláudio; Corte-Real, Suzana; Conceição-Silva, Fátima

    2014-01-01

    The Parinaud oculoglandular syndrome is a rare eye disease caused by different etiologic agents, including bacteria, viruses and fungi. It is characterized by a granulomatous conjunctivitis, accompanied by adjacent preauricular lymphadenopathy and can bring consequences if not treated promptly. We present a case of Parinaud oculoglandular syndrome caused by Sporothrix schenckii from the sporotrichosis epidemic in its zoonotic form occurring in Rio de Janeiro, Brazil.

  9. Clouston syndrome associated with eccrine syringofibroadenoma*

    Science.gov (United States)

    de Andrade, Ana Carolina Dias Viana; Vieira, Denise Cardoso; Harris, Olga Maria Oiticica; Pithon, Matheus Melo

    2014-01-01

    Eccrine syringofibroadenoma is a rare benign neoplasia derived from acrosyryngium cells of the eccrine sudoriferous glands. It affects the extremities of elderly individuals as solitary tumors, or may also present as multiple lesions. There are controversies about the pathogenesis and differentiation of the tumor. Eccrine syringofibroadenoma has been associated with subjacent conditions, such as for example, hypohidrotic ectodermic dysplasias. The authors describe a case report of a patient with Clouston Syndrome, who presented papules and nodules in extremities, clinically and histologically compatible with eccrine syringofibroadenoma. There are only three cases described in the literature, associated with Clouston Syndrome, and this is the fourth case. PMID:24937830

  10. Hemophagocytic syndrome associated with Plasmodium falciparum infection

    Directory of Open Access Journals (Sweden)

    P N Vinoth

    2011-01-01

    Full Text Available Hemophagocytic syndrome (HPS has been associated with infections, hematological malignancies and autoimmune conditions. Malaria is rarely reported to cause HPS. We report a case of an 11-month-old infant with fever, hepatosplenomegaly, pancytopenia, high serum ferritin, hypertriglyceridemia, and bone marrow hemophagocytosis, consistent with hemophagocytic syndrome. Gametocytes of plasmodium falciparum were identified on bone marrow aspiration. Rapid recovery was observed after treatment with antimalarials.

  11. Toxic metabolic syndrome associated with HAART

    DEFF Research Database (Denmark)

    Haugaard, Steen B

    2006-01-01

    Acquired fat redistribution, that is, peripheral fat loss often accompanied by central fat accumulation in patients with HIV infection is the most common form of lipodystrophy in man. Approximately 30 - 50% of HIV-infected individuals after > or = 12 months on highly active antiretroviral therapy...... (HAART) may encounter the HIV-associated lipodystrophy syndrome (HALS), which attenuates patient compliance to this treatment. HALS is characterised by impaired glucose and lipid metabolism and other risk factors for cardiovascular disease. This review depicts the metabolic abnormalities associated...

  12. Isaac's syndrome associated with CIDP and pregnancy.

    Science.gov (United States)

    Basiri, Keivan; Fatehi, Farzad; Chitsaz, Ahmad

    2011-05-01

    Neuromyotonia with all its synonyms is a disorder of peripheral nerve hyperexcitability characterized by regular or irregular myokymia, muscle cramps and stiffness, delayed muscle relaxation after contraction, and hyperhidrosis associated with well-described spontaneous electromyographic features. Herein, we report clinical and electrodiagnostic findings of a pregnant woman with neuromyotonia who also suffered from chronic inflammatory demyelinating polyneuropathy. We treated the patient with plasma exchange, 50 mL/kg (twice weekly, for six weeks). After two weeks of treatment, cramps and stiffness were substantially reduced. After four weeks, she looked normal with a relatively smooth gait. After eight weeks, the patient was entirely well with no cramps or stiffness. Repeat EMG showed no myokymic discharges. After four months she was in good health and the plasma exchanges continued every other week without the use of corticosteroids or cytotoxic agents. Afterwards, we discontinued the plasma exchange and only visited the patient regularly. One year later, we repeated a five-day course of plasma exchange to overcome mild recurrence of myokymia in her thighs. Now, after four years, she is healthy without any disability or problem. The patient's child has been healthy throughout without any evidence of neuromyotonia. PMID:21529113

  13. Goldenhar Syndrome Associated with Extensive Arterial Malformations

    Directory of Open Access Journals (Sweden)

    Renee Frances Modica

    2015-01-01

    Full Text Available Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.

  14. Genetic syndromes associated with overgrowth in childhood.

    Science.gov (United States)

    Ko, Jung Min

    2013-09-01

    Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.

  15. Syndromes Associated with Sexually Transmitted Infections

    OpenAIRE

    Max Chernesky; David Patrick; Rosanna Peeling

    2005-01-01

    Excellent technologies have been developed to identify the specific microbial agents of chlamydia, gonorrhea, syphilis, herpes, chancroid, trichomoniasis, human papillomavirus and HIV infection. However, it is also crucial to recognize syndromes that may be caused by one or more sexually transmitted pathogens. When laboratory services are lacking or are inadequate to provide timely results to enable appropriate treatment, some patients must be managed and treated syndromically. Most Canadian ...

  16. Small Business Development Center

    Data.gov (United States)

    Small Business Administration — Small Business Development Centers (SBDCs) provide assistance to small businesses and aspiring entrepreneurs throughout the United States and its territories. SBDCs...

  17. A krimpsiekte-like syndrome in small stock poisoned by Ornithogalum toxicarium Archer & Archer

    Directory of Open Access Journals (Sweden)

    C.J. Botha

    2000-07-01

    Full Text Available Krimpsiekte (the syndrome associated with chronic cardiac glycoside poisoning was purportedly induced by Ornithogalum toxicarium in the Karas mountains area of Keetmanshoop, Namibia. This chinkerinchee species was previously linked to a condition known as 'kwylbek' krimpsiekte in small stock in the Beaufort West district of the Western Cape Province, South Africa. In a dosing trial, respiratory distress, tachycardia and sternal recumbency were observed in 2 sheep drenched with fresh plant material. A fluorescence polarisation immunoassay (FPIA detected the presence of a substance that cross-reacted with digoxin antibodies in some of the plant material collected at Keetmanshoop and Beaufort West. This is the first time that apparent cardiac glycoside poisoning was induced by a southern African chinkerinchee species. The presence of the cardiac glycoside-like substance in O. toxicarium requires further chemical verification.

  18. Small intestinal ischemia and infarction

    Science.gov (United States)

    Intestinal necrosis; Ischemic bowel - small intestine; Dead bowel - small intestine; Dead gut - small intestine; Infarcted bowel - small intestine; Atherosclerosis - small intestine; Hardening of the arteries - small intestine

  19. Are Subject Small Clauses Really Small Clauses?

    Science.gov (United States)

    Kubo, Miori

    1993-01-01

    This paper discusses the ongoing debate over small clauses concerning the structure of the verb phrase in "I consider Bill smart." It is demonstrated that the subject constituent in question is not a small clause, but a Noun Phrase (NP), following Noun (N). It is shown that some peculiar phenomena under the small clause analysis are natural…

  20. Primary Sjogren’s syndrome associated rapidly progressive interstitial lung disease(1 case report and literature review)%原发性干燥综合征相关急进性肺间质病变(1例报告并文献复习)

    Institute of Scientific and Technical Information of China (English)

    史悦; 王婉瑜; 史永红

    2014-01-01

    Objective To promote the understanding of the clinical characteristics of primary Sjogren’s syndrome associated rapidly progressive interstitial lung disease. Methods Literature was reviewed combining the clinical data of primary Sjogren’s syndrome associated with rapidly progressive interstitial lung disease. Primary Sjogren’s syndrome associated with rapidly progressive interstitial lung disease was a rare and severe complication and chest HRCT played an important role on diagnosing and evaluating therapy response of rapidly progressive interstitial lung disease. Prognosis can be improved by diagnosis in early stage and active immunosuppressive therapy. Results A 62-year old female patient was admitted for cough and dyspnea. 1. rapidly progressive interstitial lung disease. 2. primary Sjogren’s syndrome;prednisone therapy was effective. Conclusion Primary Sjogren’s syndrome associated rapidly progressive interstitial lung disease is a rare serious complications, chest HRCT plays an important role inf accelerated pulmonary interstitial disease diagnosis and curative effect evaluation. Early diagnosis and active immunosuppressive therapy can improve prognosis.%目的:提高对原发性干燥综合征相关急进性肺间质病变临床特征认识。方法结合1例原发性干燥综合征相关性肺间质病变临床资料进行文献复习。结果患者,女,62岁,因咳嗽气喘5 d入院,诊断:①急进性肺间质病变,呼吸衰竭。②原发性干燥综合征。强的松治疗有效。结论原发性干燥综合征相关急进性肺间质病变是一种少见严重并发症,胸部HRCT对急进性肺间质病变诊断和疗效评估起重要作用。早期诊断,积极免疫抑制治疗能改善预后。

  1. Lung cancer - small cell

    Science.gov (United States)

    Cancer - lung - small cell; Small cell lung cancer; SCLC ... About 15% of all lung cancer cases are SCLC. Small cell lung cancer is slightly more common in men than women. Almost all cases of SCLC ...

  2. Lung cancer - small cell

    Science.gov (United States)

    Cancer - lung - small cell; Small cell lung cancer; SCLC ... About 15% of all lung cancer cases are SCLC. Small cell lung cancer is slightly more common in men than women. Almost all cases of SCLC are ...

  3. Small Business Size Standards

    Data.gov (United States)

    Small Business Administration — Certain government programs, such as SBA loan programs and contracting opportunities, are reserved for small business concerns. In order to qualify, businesses must...

  4. Small bowel resection - discharge

    Science.gov (United States)

    ... incision is red, warm, swollen, or more painful Short of breath or chest pain Swollen legs or pain in your calves Alternative Names Small intestine surgery - discharge; Bowel resection - small intestine - discharge; Resection of ...

  5. Small Intestine Disorders

    Science.gov (United States)

    Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to ... many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods ...

  6. Securitization and small business

    OpenAIRE

    Wilcox, James A.

    2011-01-01

    Small businesses have relied considerably on securitized markets for credit. The recent financial crisis led to a virtual cessation of securitization of some of the loans used by small businesses, such as commercial real estate mortgages, vehicle, and credit card loans. In addition, values of commercial and residential real estate, which small businesses often use as collateral for loans, dropped dramatically. As a consequence, small businesses may have experienced tighter credit conditions t...

  7. Chairing a Small Department.

    Science.gov (United States)

    Bowker, Lee H.; Lynch, David M.

    Ten management problems for chairs of small departments in small colleges are discussed, along with problem-solving strategies for these administrators. Serious disagreements within a small and intimate department may create a country club culture in which differences are smoothed over and the personal idiosyncrasies of individual members are…

  8. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome.

    Science.gov (United States)

    Sharda, Sheetal; Panigrahi, Inusha; Marwaha, Ram Kumar

    2011-01-01

    There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  9. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda

    2011-01-01

    Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  10. Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Jensen, Hanne; Larsen, Michael;

    2013-01-01

    Abstract Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired......: Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently...... dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity...

  11. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity

    DEFF Research Database (Denmark)

    Andersen, Kirstine Lynge; Echwald, Søren Morgenthaler; Larsen, Lesli Hingstrup;

    2005-01-01

    was identified in two families and showed partial cosegregation with obesity. The Pro(39)Pro, Ile(178)Ile, and Arg(517)Cys variants are in complete linkage disequilibrium and defined a prevalent haplotype. In a case-control study, the Arg(517)Cys polymorphism allele prevalence was 11.4% [95% confidence interval......Obesity is a prominent feature of the Bardet-Biedl syndrome (BBS), one subset of which, BBS6, is due to mutations in the chaperonin-like gene termed the McKusick-Kaufman syndrome (MKKS) gene. We tested whether variation in MKKS contributes to common and probably polygenic forms of obesity...... by performing mutation analysis of the coding region in 60 Danish white men with juvenile-onset obesity. Five variants were identified, including two synonymous mutations (Pro(39)Pro and Ile(178)Ile) and three nonsynonymous variants (Ala(242)Ser, Arg(517)Cys, and Gly(532)Val). Furthermore, the rare Ala(242)Ser...

  12. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

    Science.gov (United States)

    Schaefer, Elise; Durand, Myriam; Stoetzel, Corinne; Doray, Bérénice; Viville, Brigitte; Hellé, Sophie; Danse, Jean-Marc; Hamel, Christian; Bitoun, Pierre; Goldenberg, Alice; Finck, Sonia; Faivre, Laurence; Sigaudy, Sabine; Holder, Muriel; Vincent, Marie-Claire; Marion, Vincent; Bonneau, Dominique; Verloes, Alain; Nisand, Israël; Mandel, Jean-Louis; Dollfus, Hélène

    2011-01-01

    Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. PMID:21044901

  13. Study of cilia assembly in Tetrahymena and the role of cytosolic chaperonin CCT

    OpenAIRE

    Seixas, Ana Cecília Fernandes, 1974-

    2008-01-01

    Os cílios são organelos conservados evolutivamente que são requeridos num vasto número de processos celulares tais como locomoção, quimiotaxia, movimento de fluídos e transdução de sinais. Nos últimos anos, um grande número de publicações tem demonstrado o impacto que pequenas alterações no correcto funcionamento dos cílios tem no Homem. Várias doenças humanas que se caracterizam por quadros clínicos complexos, como o síndrome de Bardet-Biedl (BBS) e o síndrome de Meckel-Gruber (MKS) foram re...

  14. Small cell glioblastoma or small cell carcinoma

    DEFF Research Database (Denmark)

    Hilbrandt, Christine; Sathyadas, Sathya; Dahlrot, Rikke H;

    2013-01-01

    was admitted to the hospital with left-sided loss of motor function. A MRI revealed a 6 cm tumor in the right temporoparietal area. The histology was consistent with both glioblastoma multiforme (GBM) and small cell lung carcinoma (SCLC) but IHC was suggestive of a SCLC metastasis. PET-CT revealed...

  15. Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos

    Directory of Open Access Journals (Sweden)

    Carl Matthias

    2009-03-01

    Full Text Available Abstract Background The centrosome is the cell's microtubule organising centre, an organelle with important roles in cell division, migration and polarity. However, cells can divide and flies can, for a large part of development, develop without them. Many centrosome proteins have been identified but the roles of most are still poorly understood. The centrioles of the centrosome are similar to the basal bodies of cilia, hair-like extensions of many cells that have important roles in cell signalling and development. In a number of human diseases, such Bardet-Biedl syndrome, centrosome/cilium proteins are mutated, leading to polycystic kidney disease, situs inversus, and neurological problems, amongst other symptoms. Results We describe zebrafish (Danio rerio embryos depleted for two uncharacterised, centrosome proteins, Cep70 and Cep131. The phenotype of these embryos resembles that of zebrafish mutants for intraflagellar transport proteins (IFTs, with kidney and ear development affected and left-right asymmetry randomised. These organs and processes are those affected in Bardet-Biedl syndrome and other similar diseases. Like these diseases, the root cause of the phenotype lies, in fact, in dysfunctional cilia, which are shortened but not eliminated in several tissues in the morphants. Centrosomes and basal bodies, on the other hand, are present. Both Cep70 and Cep131 possess a putative HDAC (histone deacetylase interacting domain. However, we could not detect in yeast two-hybrid assays any interaction with the deacetylase that controls cilium length, HDAC6, or any of the IFTs that we tested. Conclusion Cep70 and Cep131 contribute to ciliogenesis in many tissues in the zebrafish embryo: cilia are made in cep70 and cep131 morphant zebrafish embryos but are shortened. We propose that the role of these centrosomal/basal body proteins is in making the cilium and that they are involved in determination of the length of the axoneme.

  16. Small Schools, Big Future

    Science.gov (United States)

    Halsey, R. John

    2011-01-01

    Historically, small schools have played a very important role in the provision of schooling in Australia. Numerically, using an enrollment of 200 or less, small schools represent approximately 45% of the schools in Australia. Population growth and the consequences of this, in particular for food production, water and energy, mean that the…

  17. Development of Small Company

    OpenAIRE

    Fiedler, Viktor

    2015-01-01

    The subject of bachelor thesis is analysis of possibilities and directions of the development of small company. It describes the structure of small company and the problems of its development. It analyses present economical, financial and business situation inside and outside the company. In the second part author introduces some proposals for improving several parts of company.

  18. Small Group Inquiry.

    Science.gov (United States)

    Koller, Martin M.

    Learning in small groups is a practical way to bring about behavior change. The inquiry learning process is perceived to be the most natural and scientific way of learning. Skills developed include those of problem-solving task analysis, decision-making, value formation and adaptability. The art of small group interaction is developed. Factual…

  19. Small States in Europe

    DEFF Research Database (Denmark)

    This book offers an accessible, coherent and informative analysis of contemporary and future foreign policy challenges facing small states in Europe.......This book offers an accessible, coherent and informative analysis of contemporary and future foreign policy challenges facing small states in Europe....

  20. Wind: small is beautiful

    International Nuclear Information System (INIS)

    The small wind sector (0.5-100 kW) is often overlooked but could provide decentralised energy systems. Small wind turbines have been used for homes, farms and small businesses for over 80 years (e.g. in the USA and the Netherlands), receiving a boost in the 1970s and 1980s following the 1973 oil crisis when a new generation of turbines entered the European and US markets. Bergey Windpower and Southwest Windpower from the USA are the market leaders in this sector in terms of sales volume but are still classed as medium-sized enterprises. Small turbines have the disadvantage of higher costs compared with large turbines due to higher manufacturing costs, technical factors associated with the tendency to use small turbines on relatively short towers, small production runs and a failure to keep up with the latest design developments such as cost-effective state-of-the-art frequency converters. Most small turbines are horizontal axis turbines, though vertical axis turbines are produced by some manufacturers. Examples of the systems available from European suppliers are described

  1. Wind: small is beautiful

    Energy Technology Data Exchange (ETDEWEB)

    Vries, E. de

    2005-10-01

    The small wind sector (0.5-100 kW) is often overlooked but could provide decentralised energy systems. Small wind turbines have been used for homes, farms and small businesses for over 80 years (e.g. in the USA and the Netherlands), receiving a boost in the 1970s and 1980s following the 1973 oil crisis when a new generation of turbines entered the European and US markets. Bergey Windpower and Southwest Windpower from the USA are the market leaders in this sector in terms of sales volume but are still classed as medium-sized enterprises. Small turbines have the disadvantage of higher costs compared with large turbines due to higher manufacturing costs, technical factors associated with the tendency to use small turbines on relatively short towers, small production runs and a failure to keep up with the latest design developments such as cost-effective state-of-the-art frequency converters. Most small turbines are horizontal axis turbines, though vertical axis turbines are produced by some manufacturers. Examples of the systems available from European suppliers are described.

  2. Small - Display Cartography

    DEFF Research Database (Denmark)

    Nissen, Flemming; Hvas, Anders; Münster-Swendsen, Jørgen;

    This report comprises the work carried out in the work-package of small display cartography. The work-package has aimed at creating a general framework for the small-display cartography. A solid framework facilitates an increased use of spatial data in mobile devices - thus enabling, together...... Service Communication and finally, Part IV: Concluding remarks and topics for further research on small-display cartography. Part II includes a separate Appendix D consisting of a cartographic design specification. Part III includes a separate Appendix C consisting of a schema specification, a separate...

  3. Small scale optics

    CERN Document Server

    Yupapin, Preecha

    2013-01-01

    The behavior of light in small scale optics or nano/micro optical devices has shown promising results, which can be used for basic and applied research, especially in nanoelectronics. Small Scale Optics presents the use of optical nonlinear behaviors for spins, antennae, and whispering gallery modes within micro/nano devices and circuits, which can be used in many applications. This book proposes a new design for a small scale optical device-a microring resonator device. Most chapters are based on the proposed device, which uses a configuration know as a PANDA ring resonator. Analytical and nu

  4. Small satellites - An overview

    Science.gov (United States)

    Ward, A. K.

    The present review of small satellites examines spacecraft activities in the U.K. and compiles a checklist of advantages and applications for the class. These advantages are illustrated with references to recent small satellite missions and technologies developed to facilitate such launches and projects. Specific programs examined include AMPTE-UKS, Viking, and the UoSAT program, and information is given regarding the Small Explorer program, the RAE Space Technology Research Vehicle, the AEA Argos Program, and space research programs in both Japan and India. Low-cost launches are shown to be available in the form of the Ariane Structure for Auxiliary Payloads, the Pegasus and Delta vehicles, and with the Shuttle Free-flying Getaway Special. Small-satellite technologies that play key roles in their effective implementation are: structure/thermal advances, attitude control systems, on-board communications, and power and data-handling systems.

  5. Small intestine (image)

    Science.gov (United States)

    The small intestine is the portion of the digestive system most responsible for absorption of nutrients from food into the bloodstream. The pyloric sphincter governs the passage of partly digested food ...

  6. Small Mammal Trapping 2003

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Small mammal traps were placed in the Baring division and in the Edmunds division of Moosehom National Wildlife Refuge. There were a total of 98 traps set for up to...

  7. Small bowel bacterial overgrowth

    Science.gov (United States)

    ... Surgical procedures that create a loop of small intestine where excess bacteria can grow. An example is a Billroth II type of stomach removal ( gastrectomy ). Some cases of irritable bowel syndrome (IBS) Symptoms The most common symptoms are: Abdominal ...

  8. Small & Large Intestine

    Science.gov (United States)

    ... the large intestine produces no digestive enzymes. Chemical digestion is completed in the small intestine before the chyme reaches the large intestine. Functions of the large intestine include the absorption of water and electrolytes and the elimination of ...

  9. Small bowel resection

    Science.gov (United States)

    ... reconnect, your surgeon makes an opening called a stoma through the skin of your belly. The small ... of your belly. Stool will go through the stoma into a drainage bag outside your body. This ...

  10. Small Satellite Transporter Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The primary objective is to determine whether this small satellite transporter is capable of transporting at least four 6U CubeSats is possible for a given set of...

  11. Small test SDHW systems

    DEFF Research Database (Denmark)

    Vejen, Niels Kristian

    1999-01-01

    Three small test SDHW systems was tested in a laboratory test facility.The three SDHW systems where all based on the low flow principe and a mantle tank but the design of the systems where different.......Three small test SDHW systems was tested in a laboratory test facility.The three SDHW systems where all based on the low flow principe and a mantle tank but the design of the systems where different....

  12. Research using small tokamaks

    International Nuclear Information System (INIS)

    These proceedings of the IAEA-sponsored meeting held in Nice, France 10-11 October, 1988, contain the manuscripts of the 21 reports dealing with research using small tokamaks. The purpose of this meeting was to highlight some of the achievements of small tokamaks and alternative magnetic confinement concepts and assess the suitability of starting new programs, particularly in developing countries. Papers presented were either review papers, or were detailed descriptions of particular experiments or concepts. Refs, figs and tabs

  13. SMALL SCALE MORPHODYNAMICAL MODELLING

    Institute of Scientific and Technical Information of China (English)

    D. Ditschke; O. Gothel; H. Weilbeer

    2001-01-01

    Long term morphological simulations using complete coupled models lead to very time consuming computations. Latteux (1995) presented modelling techniques developed for tidal current situations in order to reduce the computational effort. In this paper the applicability of such methods to small scale problems is investigated. It is pointed out that these methods can be transferred to small scale problems using the periodicity of the vortex shedding process.

  14. Small wind turbine

    OpenAIRE

    Vélez Castellano, Didier

    2010-01-01

    The main objective is to develop a project on installing a small wind turbine at the University of Glyndwr in Wrexham Wales. Today are immersed in a world seeking clean energy for reduce greenhouse gases because this problem is becoming a global reality. So installing a small wind turbine at the university would provide large quantity of clean energy to supply a workshop and also reduce the expulsion of CO2 into the atmosphere. The main characteristic of the turbine under...

  15. UNDERSTANDING SMALL BUSINESS SCAMS

    OpenAIRE

    Michael T. Schaper; PAUL WEBER

    2012-01-01

    This paper provides an overview of the current state of knowledge about small business scams. A scam is a form of dishonest action, based upon an invitation to participate in an activity. Victims are encouraged, mislead or induced to voluntarily interact with the perpetrator, and ultimately to willingly surrender over money, information or other valuable resources. Common forms of scams directed towards small business include phishing, false business valuations and sales, fake overpayments, f...

  16. Gas Quenching Small Components

    Institute of Scientific and Technical Information of China (English)

    Paul Stratton

    2004-01-01

    Gas quenching is an environmentally friendly and effective way of quenching components. However it has not been possible to apply it to small components because of the difficulties of jigging. A method of gas quenching such small components is described in which they are levitated in a confined gas stream. The method is suitable for quenching low alloy steel components that weigh between 1 and 10g.

  17. Small-x physics

    Energy Technology Data Exchange (ETDEWEB)

    Mueller, A.H. [Columbia Univ., New York, NY (United States). Dept. of Physics

    1997-06-01

    After a brief review of the kinematics of deep inelastic lepton-proton scattering, the parton model is described. Small-x behavior coming from DGLAP evolution and from BFKL evolution is discussed, and the two types of evolution are contrasted and compared. Then a more detailed discussion of BFKL dynamics is given. The phenomenology of small-x physics is discussed with an emphasis on ways in which BFKL dynamics may be discussed and measured. 45 refs., 12 figs.

  18. Small dams in Canada

    Energy Technology Data Exchange (ETDEWEB)

    Grapel, C.K. [EBA Engineering Consultants Ltd., Edmonton, AB (Canada); Mitchelmore, P. [Mitchelmore Engineering Co. Ltd., Halifax, NS (Canada)

    2009-07-01

    Small dams are often used for irrigation, municipal water supplies and storm water management. Small dams outnumber large hydro-electric projects in Canada by a wide margin, and tend to be located closer to large population centres. Despite their lower profile with the general public, small dams frequently have high consequence classifications. This study discussed the distribution of various consequence classifications for small dams of varying heights. Databases from different Canadian provinces were used to develop sets of statistics on dam features, the distribution of risk, and other relevant information. Approximately 6000 dams were classified in the database. Of these, 444 were greater than 15 metres in height. A significant portion of with high consequence classifications qualified as small dams, and the majority of the high consequence dams were under 10 metres in height. The largest population of dam owners have limited resources available for adequate engineering design, construction supervision, and dam safety management programs. It was concluded that economical methods of estimating probable maximum flood (PMF) rates are needed for small dams. 8 refs., 5 tabs., 2 figs.

  19. How Small are Small Stars Really?

    Science.gov (United States)

    2002-11-01

    VLT Interferometer Measures the Size of Proxima Centauri and Other Nearby Stars [1] Summary At a distance of only 4.2 light-years, Proxima Centauri is the nearest star to the Sun currently known [2]. It is visible as an 11-magnitude object in the southern constellation of Centaurus and is the faintest member of a triple system, together with Alpha Centauri , the brightest (double) star in this constellation. Proxima Centauri is a very-low-mass star, in fact barely massive enough to burn hydrogen to helium in its interior. It is about seven times smaller than the Sun, and the surface temperature is "only" about 3000 degrees, about half of that of our own star. Consequently, it is also much fainter - the intrinsic brightness is only 1/150th of that of our Sun. Low-mass stars are very interesting objects , also because the physical conditions in their interiors have much in common with those of giant planets, like Jupiter in our solar system. A determination of the sizes of the smallest stars has been impossible until now because of their general faintness and lack of adequate instrumentation. However, astronomers have long been keen to move forward in this direction, since such measurements would provide indirect, crucial information about the behaviour of matter under extreme conditions. When the first observations with the VLT Interferometer (VLTI), combining the light from two of the 8.2-m VLT Unit Telescopes (ANTU and MELIPAL), were made one year ago ( ESO PR 23/01 ), interferometric measurements were also obtained of Proxima Centauri . They formed part of the VLTI commissioning and the data were soon released to the ESO community, cf. the special website. Now, an international team of astronomers from Switzerland, France and ESO/Chile has successfully analysed these observations by means of newly developed, advanced software. For the first time ever, they obtained a highly accurate measurement of the size of such a small star . Three other small stars were also

  20. MINERVA: Small Planets from Small Telescopes

    Science.gov (United States)

    Wittenmyer, Robert A.; Johnson, John Asher; Wright, Jason; McCrady, Nate; Swift, Jonathan; Bottom, Michael; Plavchan, Peter; Riddle, Reed; Muirhead, Philip S.; Herzig, Erich; Myles, Justin; Blake, Cullen H.; Eastman, Jason; Beatty, Thomas G.; Lin, Brian; Zhao, Ming; Gardner, Paul; Falco, Emilio; Criswell, Stephen; Nava, Chantanelle; Robinson, Connor; Hedrick, Richard; Ivarsen, Kevin; Hjelstrom, Annie; Vera, Jon De; Szentgyorgyi, Andrew

    2015-09-01

    The Kepler mission has shown that small planets are extremely common. It is likely that nearly every star in the sky hosts at least one rocky planet. We just need to look hard enough-but this requires vast amounts of telescope time. MINERVA (MINiature Exoplanet Radial Velocity Array) is a dedicated exoplanet observatory with the primary goal of discovering rocky, Earth-like planets orbiting in the habitable zone of bright, nearby stars. The MINERVA team is a collaboration among UNSW Australia, Harvard-Smithsonian Center for Astrophysics, Penn State University, University of Montana, and the California Institute of Technology. The four-telescope MINERVA array will be sited at the F.L. Whipple Observatory on Mt Hopkins in Arizona, USA. Full science operations will begin in mid-2015 with all four telescopes and a stabilised spectrograph capable of high-precision Doppler velocity measurements. We will observe ~100 of the nearest, brightest, Sun-like stars every night for at least five years. Detailed simulations of the target list and survey strategy lead us to expect new low-mass planets.

  1. Small Animal Retinal Imaging

    Science.gov (United States)

    Choi, WooJhon; Drexler, Wolfgang; Fujimoto, James G.

    Developing and validating new techniques and methods for small animal imaging is an important research area because there are many small animal models of retinal diseases such as diabetic retinopathy, age-related macular degeneration, and glaucoma [1-6]. Because the retina is a multilayered structure with distinct abnormalities occurring in different intraretinal layers at different stages of disease progression, there is a need for imaging techniques that enable visualization of these layers individually at different time points. Although postmortem histology and ultrastructural analysis can be performed for investigating microscopic changes in the retina in small animal models, this requires sacrificing animals, which makes repeated assessment of the same animal at different time points impossible and increases the number of animals required. Furthermore, some retinal processes such as neurovascular coupling cannot be fully characterized postmortem.

  2. Small hydroelectric engineering practice

    CERN Document Server

    Leyland, Bryan

    2014-01-01

    Small Hydroelectric Engineering Practice is a comprehensive reference book covering all aspects of identifying, building, and operating hydroelectric schemes between 500 kW and 50 MW. In this range of outputs there are many options for all aspects of the scheme and it is very important that the best options are chosen.As small hydroelectric schemes are usually built against a limited budget it is extremely important that the concept design is optimum and every component is designed to maximise the benefi t and minimise the cost. As operating costs are often a high proportion of the income it i

  3. Small is beautiful

    Energy Technology Data Exchange (ETDEWEB)

    Woof, M.; Casteel, K.

    1997-12-01

    While safety standards in modern mechanised underground coal mines in Britain are good, so are standards in their smaller competitors using much older equipment. Working practices and conditions at several Federation of Independent Mines (FIM) operations are described, detailing the use of equipment and methods that would be considered obsolete in larger mines. Although these mines are small the high quality of the coal that they mine means that they are economic. Drilling equipment used in small mines, and scoops are also described. 7 photos. 1 tab.

  4. Small Public Library Management

    Science.gov (United States)

    Pearlmutter, Jane; Nelson, Paul

    2012-01-01

    Anyone at the helm of a small public library knows that every little detail counts. But juggling the responsibilities that are part and parcel of the job is far from easy. Finally, here's a handbook that includes everything administrators need to keep a handle on library operations, freeing them up to streamline and improve how the organization…

  5. Small public private partnerships

    DEFF Research Database (Denmark)

    Koch, Christian; Jensen, Jesper Ole

    2009-01-01

    Public Private Partnerships (PPP) are frequently mobilized as a purchasing form suitable for large infrastructure projects. And it is commonly assumed that transaction costs linked to the establishment of PPP make them prohibitive in small sizes. In a Danish context this has been safeguarded...

  6. Rolling at small scales

    DEFF Research Database (Denmark)

    Nielsen, Kim L.; Niordson, Christian F.; Hutchinson, John W.

    2016-01-01

    The rolling process is widely used in the metal forming industry and has been so for many years. However, the process has attracted renewed interest as it recently has been adapted to very small scales where conventional plasticity theory cannot accurately predict the material response. It is well...

  7. Libraries for Small Museums.

    Science.gov (United States)

    Anderson, Linda M.

    Presented are the very basic requirements for establishing a small special library operating under a limited budget. Physical plant organization, cataloging, book processing, circulation procedures, book selection and ordering and instructions for typists are covered. Although the practices discussed were established for a museum library, what is…

  8. Deburring small intersecting holes

    Energy Technology Data Exchange (ETDEWEB)

    Gillespie, L.K.

    1980-08-01

    Deburring intersecting holes is one of the most difficult deburring tasks faced by many industries. Only 14 of the 37 major deburring processes are applicable to most intersecting hole applications. Only five of these are normally applicable to small or miniature holes. Basic process capabilities and techniques used as a function of hole sizes and intersection depths are summarized.

  9. Small hydrogen liquefier

    International Nuclear Information System (INIS)

    In this work the deign and construction of a small hydrogen liquefier (two liters per hour maximum production) is described. The isenthalpic expansion process is used, because its construction is simple and it is generally cheaper to operate. A comparison with other liquefier processes, and considerations about their basic theory are also presented. (author)

  10. Small and Magical

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Ant genome study offers promising evidence in medical and anti-aging research While children often love observing ants happily for hours, grownups are more likely to ignore these small creatures. Some scientists, however, show greater interest in ants than children do.

  11. Small can be beautiful

    Energy Technology Data Exchange (ETDEWEB)

    Albrand, Solveig (Institut des Sciences Nucleaires, IN2P3-CNRS/Universite Joseph Fourier, 53, avenue des Martyrs, 38026, Grenoble Cedex (France)); Ravel, J.C. (Institut des Sciences Nucleaires, IN2P3-CNRS/Universite Joseph Fourier, 53, avenue des Martyrs, 38026, Grenoble Cedex (France))

    1994-12-15

    Small laboratories with limited financial means can use low-cost personal computers for many control applications. Examples of control systems developed at SARA are discussed, illustrating the evolution of the system in step with that of the PC, but each time with a considerable re-use of software. ((orig.))

  12. Small is beautiful

    Energy Technology Data Exchange (ETDEWEB)

    Hindley, M.

    1994-09-01

    This article focusses on small hydroelectric power development in Finland. Legislative and financial incentives, and use of standard tubular turbines are discussed. The Vuotos reservoir project is described, and the preparation of an environmental assessment of the project is noted. (UK)

  13. Research using small tokamaks

    International Nuclear Information System (INIS)

    This document consists of a collection of papers presented at the IAEA Technical Committee Meeting on Research Using Small Tokamaks. It contains 22 papers on a wide variety of research aspects, including diagnostics, design, transport, equilibrium, stability, and confinement. Some of these papers are devoted to other concepts (stellarators, compact tori). Refs, figs and tabs

  14. Small is Beatiful

    DEFF Research Database (Denmark)

    Hansen, Henrik Aldershaab Boje; Pleman, Allan; Koch, Christian

    1999-01-01

    The life and death of a small Danish software house developing ERP-software in collaboration with costumers is analysed.User producer relationships are central drivers in the company's history. This reactive development strategy creates a niche at the marketplace but produces internal...

  15. Small Windmills in Denmark

    DEFF Research Database (Denmark)

    Petersen, H.

    1980-01-01

    The report describes a project for small windmills funded by the Ministry of Energy. The test plant is described and a survey of Danish windmills is presented. Some requirements for windmills are mentioned and regulations governing the interface between grid-connected windmills and the electric...

  16. Imaging the small bowel.

    LENUS (Irish Health Repository)

    Murphy, Kevin P

    2014-03-01

    Radiologic investigations continue to play a pivotal role in the diagnosis of pathologic conditions of the small intestine despite enhancement of capsule endoscopy and double-balloon endoscopy. Imaging techniques continue to evolve and new techniques in MRI in particular, are being developed.

  17. Small Engine & Accessory Test Area

    Data.gov (United States)

    Federal Laboratory Consortium — The Small Engine and Accessories Test Area (SEATA) facilitates testaircraft starting and auxiliary power systems, small engines and accessories. The SEATA consists...

  18. [Small intestine bacterial overgrowth].

    Science.gov (United States)

    Leung Ki, E L; Roduit, J; Delarive, J; Guyot, J; Michetti, P; Dorta, G

    2010-01-27

    Small intestine bacterial overgrowth (SIBO) is a condition characterised by nutrient malabsorption and excessive bacteria in the small intestine. It typically presents with diarrhea, flatulence and a syndrome of malabsorption (steatorrhea, macrocytic anemia). However, it may be asymptomatic in the eldery. A high index of suspicion is necessary in order to differentiate SIBO from other similar presenting disorders such as coeliac disease, lactose intolerance or the irritable bowel syndrome. A search for predisposing factor is thus necessary. These factors may be anatomical (stenosis, blind loop), or functional (intestinal hypomotility, achlorydria). The hydrogen breath test is the most frequently used diagnostic test although it lacks standardisation. The treatment of SIBO consists of eliminating predisposing factors and broad-spectrum antibiotic therapy. PMID:20214190

  19. Small steps for hydro

    Energy Technology Data Exchange (ETDEWEB)

    Wicke, Peter [SOWIWAS GmbH, Managua (Nicaragua)

    1998-04-01

    The government in Peru has decided to utilise its gas reserves and restrict hydro to relatively small schemes. A number of reasons for the decision are given. In 1997, the Shell-Mobile-Bechtel-COSAPI consortium was formed and agreements were signed regarding exploiting Gas de Camisea. The country's energy needs to 2010 are being assessed. It is likely that by 2001 the whole of south Peru will be receiving gas from Camisea. The Peru situation is discussed under the headings of (i) existing capacity, (ii) growing demands, (iii) a history of hydro in Peru, (iv) electrification and SHP and (v) outlook. The future for Peru's electric energy development is bright. While most of its new power capacity will come from natural gas, the small hydros also have a part to play. A stronger commitment of national and regional political authorities to consider supplies outside the big cities is said to be needed. (UK)

  20. Small steps for hydro

    International Nuclear Information System (INIS)

    The government in Peru has decided to utilise its gas reserves and restrict hydro to relatively small schemes. A number of reasons for the decision are given. In 1997, the Shell-Mobile-Bechtel-COSAPI consortium was formed and agreements were signed regarding exploiting Gas de Camisea. The country's energy needs to 2010 are being assessed. It is likely that by 2001 the whole of south Peru will be receiving gas from Camisea. The Peru situation is discussed under the headings of (i) existing capacity, (ii) growing demands, (iii) a history of hydro in Peru, (iv) electrification and SHP and (v) outlook. The future for Peru's electric energy development is bright. While most of its new power capacity will come from natural gas, the small hydros also have a part to play. A stronger commitment of national and regional political authorities to consider supplies outside the big cities is said to be needed. (UK)

  1. Small Business Innovations (MISER)

    Science.gov (United States)

    1991-01-01

    Lightwave Electronics Corporation, Mountain View, CA, developed the Series 120 and 122 non-planner diode pumped ring lasers based on a low noise ring laser with voltage tuning that they delivered to Jet Propulsion Laboratory under a Small Business Innovation Research (SBIR) contract. The voltage tuning feature allows "phase-locking" the lasers, making them "electronic," similar to radio and microwave electronic oscillators. The Series 120 and 122 can be applied to fiber sensing, coherent communications and laser radar.

  2. Small Business Innovations (Photodetector)

    Science.gov (United States)

    1991-01-01

    Epitaxx, Inc. of Princeton, NJ, developed the Epitaxx Near Infrared Room Temperature Indium-Gallium-Arsenide (InGaAs) Photodetector based on their Goddard Space Flight Center Small Business Innovation Research (SBIR) contract work to develop a linear detector array for satellite imaging applications using InGaAs alloys that didn't need to be cooled to (difficult and expensive) cryogenic temperatures. The photodetectors can be used for remote sensing, fiber optic and laser position-sensing applications.

  3. Think Small Go Big

    Institute of Scientific and Technical Information of China (English)

    汤维维

    2006-01-01

    Vepoo公司在创立之前,经历了三次创业转型。用他们的话来说,从“think big go small”转到“think small go big”用了一年的时间。这期间他们耗尽了初期筹备资金,幸运的是在最后一刻迎来了黎明的曙光。

  4. Small Cell City

    OpenAIRE

    Dehghan, S.; Steele, R.

    1997-01-01

    Traditionally, mobile operators have planned their networks to accommodate mobile terminals at ground level. Increasingly, mobile users communicate while stationary from within high-rise buildings. With mobiles operating at a variety of different heights and mobilities, plus the requirement to accommodate increasing teletraffic and multimedia services, there is a need to compact small cells into the three-dimensional city space. This article is concerned with using city buildings to act as el...

  5. Small Animal Bone Biomechanics

    OpenAIRE

    Vashishth, Deepak

    2008-01-01

    Animal models, in particular mice, offer the possibility of naturally achieving or genetically engineering a skeletal phenotype associated with disease and conducting destructive fracture tests on bone to determine the resulting change in bone’s mechanical properties. Several recent developments, including nano- and micro- indentation testing, microtensile and microcompressive testing, and bending tests on notched whole bone specimens, offer the possibility to mechanically probe small animal ...

  6. Small and Magical

    Institute of Scientific and Technical Information of China (English)

    TANG YUANKAI

    2011-01-01

    While children often love observing ants happily for hours,grown-ups are more likely to ignore these small creatures.Some scientists,however,show greater interest in ants than children do.One of them is Zhang Guojie,Associate Director of the Bioinformatics Center and Leader of Genome Projects in BGI.BG1 is China's largest genome and bioinformatics analysis center in Shenzhen,in south China's Guangdong Province.

  7. Leadership in Small Societies

    OpenAIRE

    Stephen Younger

    2010-01-01

    Multi-agent simulation was used to study several styles of leadership in small societies. Populations of 50 and100 agents inhabited a bounded landscape containing a fixed number of food sources. Agents moved about the landscape in search of food, mated, produced offspring, and died either of hunger or at a predetermined maximum age. Leadership models focused on the collection and redistribution of food. The simulations suggest that individual households were more effective at meeting their ne...

  8. When small is beautiful. Boom time for small hydro?

    Energy Technology Data Exchange (ETDEWEB)

    Osborne, John

    2002-08-01

    Although small hydropower projects generally contribute a small proportion of most nations' electricity needs their importance often exceeds their size. The author, a freelance industrial journalist considers prospects for small hydro, how such schemes are benefiting communities throughout the world and why some countries are more successfully using small hydro than others. (Author)

  9. The small library manager's handbook

    CERN Document Server

    Graves, Alice

    2014-01-01

    The Small Library Manager's Handbook is for librarians working in all types of small libraries. It covers the everyday nuts-and-bolts operations that all librarians must perform. This handbook, written by experts who are small librarians themselves, will help all small librarians to do multiple jobs at the same time.

  10. Ecology in Small Aquatic Ecosystems

    DEFF Research Database (Denmark)

    Andersen, Mikkel René

    Small ecosystems are many-fold more abundant than their larger counterparts. Both on regional and global scale small lakes outnumber medium and large lakes and account for a much larger surface area. Small streams are also far more common than rivers. Despite their abundance small ecosystems are ...

  11. Impact of motivationaI interview on the therapeutic effect of patients with metaboIic syndrome associated with the increase of bIood gIucose%动机性访谈对血糖增高代谢综合征患者的影响

    Institute of Scientific and Technical Information of China (English)

    王秀芳

    2015-01-01

    Objective:To discuss the impact of motivational interview on the therapeutic effect of patients with metabolic syndrome asso-ciated with the increase of blood glucose.Methods:100 patients with metabolic syndrome associated with the increase of blood glucose were randomly divided into the control group and the observation group(50 cases in each group).The patients in both groups were treated with Liraglutide,in addition,the motivational interview was carried out in the observation group.The course of treatment was 3 months,and then the biochemical indicators like fasting insulin,blood glucose,blood lipid and serum adiponectin were compared between the two groups.Re-sults:After the treatment,the improvement of body mass index(BMI),waist circumference(WC),systolic blood pressure(SBP),diastolic blood pressure(DBP),fasting blood glucose(FPG),2 h postprandial blood glucose(2hPG),fasting insulin(FINS),triglyceride(TG),cho-lesterol(TC),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C)of the patients was better in the observation group than the control group(P<0.05).Conclusion:The motivational interview has a good effect in improving the clinical curative effect in the treatment of patients with metabolic syndrome associated with the increase of blood glucose.%目的:探讨动机性访谈对血糖增高代谢综合征患者治疗效果的影响。方法:将100例血糖增高的代谢综合征患者随机分为对照组和观察组各50例,两组均给予利拉鲁肽治疗,观察组进行动机性访谈,疗程均为3个月,比较两组空腹胰岛素、血糖、血脂、血清脂联素等生化指标。结果:治疗后,观察组体质指数(BMI)、腰围(WC)、收缩压(SBP)、舒张压(DBP)、空腹血糖(FPG)、餐后2 h血糖(2 hPG)、空腹胰岛素(FINS)、甘油三酯(TG)、胆固醇(TC)、高密度脂蛋白-胆固醇(HDL-C)、低密度脂蛋白-胆固醇(LDL-C)等改

  12. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

    Directory of Open Access Journals (Sweden)

    Amauri Batista da Silva

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  13. Business Small company

    OpenAIRE

    KREJČOVÁ, Kateřina

    2011-01-01

    This diploma work deals with a Business Small company. The work moves on the concrete company, which is analyzed and on the basis of analyses the new strategy is formulated. At the theoretical part, summary of solving problems is introduced. It’s needed for the analytic part of work. At the beginning, business is defined in economic terms. Found in this part are basic concepts that are linked to business. From the general definition of business the work fluently proceeds to more concrete...

  14. Small changes for works

    Institute of Scientific and Technical Information of China (English)

    Jiarui Wu

    2011-01-01

    The central dogma of molecular biology indicates that genetic information from DNA is transmitted to RNA,and then translated into proteins that play various roles during all physiological and pathological processes.However,most of the proteins have to make small chemical changes on their amino acid chains,so-called post-translational modifications,before they start to work.The collection of four articles in this issue presents timely developments in the area of protein modifications,ranging from how proteins carry out their biological functions based on protein modifications to what are molecular mechanisms of protein modifications.

  15. Small Business Innovations

    Science.gov (United States)

    1995-01-01

    The PER-Force Handcontroller was originally developed for the International Space Station under a Johnson Space Center Small Business Innovation Research (SBIR) contract. Produced by Cybernet Systems Corporation, the unit is a force-reflecting system that manipulates robots or objects by "feel." The Handcontroller moves in six degrees of freedom, with real and virtual reality forces simulated by a 3-D molecular modeling software package. It is used in molecular modeling in metallurgy applications, satellite docking research, and in research on military unmanned ground vehicles.

  16. Small Business Innovations (Cryostat)

    Science.gov (United States)

    1991-01-01

    General Pneumatics Corporation, Scottsdale, AZ, developed an anti- clogging cryostat that liquifies gases by expansion for high pressure through a nozzle to produce cryorefrigeration based on their Kennedy Space Center Small Business Innovation Research (SBIR) work to develop a Joule-Thomson (JT) expansion valve that is less susceptible to clogging by particles or condensed contaminants in the flow than a non-contaminating compressor in a closed cycle Linde-Hampson cryocooler used to generate cryogenic cooling for infrared sensors, super conductors, supercooled electronics and cryosurgery.

  17. Small Business Innovations (Helicopters)

    Science.gov (United States)

    1992-01-01

    The amount of engine power required for a helicopter to hover is an important, but difficult, consideration in helicopter design. The EHPIC program model produces converged, freely distorted wake geometries that generate accurate analysis of wake-induced downwash, allowing good predictions of rotor thrust and power requirements. Continuum Dynamics, Inc., the Small Business Innovation Research (SBIR) company that developed EHPIC, also produces RotorCRAFT, a program for analysis of aerodynamic loading of helicopter blades in forward flight. Both helicopter codes have been licensed to commercial manufacturers.

  18. Small mirror fusion reactors

    International Nuclear Information System (INIS)

    Basic requirements for the pilot plants are that they produce a net product and that they have a potential for commercial upgrade. We have investigated a small standard mirror fusion-fission hybrid, a two-component tandem mirror hybrid, and two versions of a field-reversed mirror fusion reactor--one a steady state, single cell reactor with a neutral beam-sustained plasma, the other a moving ring field-reversed mirror where the plasma passes through a reaction chamber with no energy addition

  19. Rapid small lot manufacturing

    Energy Technology Data Exchange (ETDEWEB)

    Harrigan, R.W.

    1998-05-09

    The direct connection of information, captured in forms such as CAD databases, to the factory floor is enabling a revolution in manufacturing. Rapid response to very dynamic market conditions is becoming the norm rather than the exception. In order to provide economical rapid fabrication of small numbers of variable products, one must design with manufacturing constraints in mind. In addition, flexible manufacturing systems must be programmed automatically to reduce the time for product change over in the factory and eliminate human errors. Sensor based machine control is needed to adapt idealized, model based machine programs to uncontrolled variables such as the condition of raw materials and fabrication tolerances.

  20. Securitization of Small Business Loans

    OpenAIRE

    Beshouri, Christopher P.; Peter J. Nigro

    1995-01-01

    This paper assesses the potential impact of securitization in improving small businesses’ access to credit. It begins by examining the nature of small business lending and the factors that make banks the primary providers of credit to small businesses. The paper then examines the conditions under which the benefits of securitization are fully realized and whether the nature of small business lend­ing satisfies those conditions. We argue that certain characteristics of small firm finance, espe...

  1. Burning mouth syndrome associated with varicella zoster virus.

    Science.gov (United States)

    Nagel, Maria A; Gilden, Don

    2016-01-01

    We present two cases of burning mouth syndrome (BMS)-of 8-month duration in a 61-year-old woman and of 2-year duration in a 63-year-old woman-both associated with increased levels of antivaricella zoster virus (VZV) IgM antibodies in serum and with pain that improved with antiviral treatment. Combined with our previous finding of BMS due to herpes simplex virus type 1 (HSV-1) infection, we recommend evaluation of patients with BMS not only for VZV or HSV-1 DNA in the saliva, but also for serum anti-VZV and anti-HSV-1 IgM antibodies. Both infections are treatable with oral antiviral agents. PMID:27382016

  2. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive*

    OpenAIRE

    Pinto, Raimundo José Almeida de Oliveira; dos Santos, Adaílton Araújo; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical...

  3. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

    Science.gov (United States)

    Pinto, Raimundo José Almeida de Oliveira; Santos, Adaílton Araújo dos; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

  4. Catatonic syndrome associated with lead intoxication: a case report

    OpenAIRE

    Modabbernia, Mohammad Jafar; Mirsafa, Ali Reza; Modabbernia, Amirhossein; Pilehroodi, Farhad; Shirazi, Maryam

    2009-01-01

    Introduction Little is known about catatonia associated with lead intoxication. Case presentation A retired printing house worker man presented with one week history of refusal to eat and mutism. He was treated with possible diagnosis of catatonia with administration of Lorazepam 3 mg P.O. daily. Significant improvement occurred after 48 hours. In further examinations, there was no evidence of physical and mental disorders while impairment in neuropsychiatry test, identification of Dohle body...

  5. Macrophage Activation Syndrome-Associated Markers in Severe Dengue

    OpenAIRE

    Ab-Rahman, Hasliana Azrah; Rahim, Hafiz; AbuBakar, Sazaly; Wong, Pooi-Fong

    2016-01-01

    Hemophagocytosis, a phenomenon of which activated macrophages phagocytosed hematopoietic elements was reportedly observed in severe dengue patients. In the present study, we investigated whether markers of macrophage activation syndrome (MAS) can be used as differential diagnostic markers of severe dengue. Two hundred and eight confirmed dengue patients were recruited for the study. Sandwich ELISA was used to determine serum ferritin, soluble CD163 (sCD163), and soluble CD25 (sCD25) levels. T...

  6. Cronkhite-Canada syndrome associated with myelodysplastic syndrome

    Institute of Scientific and Technical Information of China (English)

    Rei Suzuki; Atsushi Irisawa; Takuto Hikichi; Yuta Takahashi; Hiroko Kobayashi; Hiromi Kumakawa; Hiromasa Ohira

    2009-01-01

    We report a case of Cronkhite-Canada syndrome (CCS) associated with myelodysplastic syndrome (MDS). A 54-year-old woman, diagnosed as MDS the prior year after evaluation of anemia, visited our hospital with the chief complaint of epigastric discomfort. She also had dysgeusia, alopecia, atrophic nail change, and pigmentation of the palm, all of which began several months ago. Blood tests revealed severe hypoalbuminemia. Colonoscopy (CS) showed numerous, dense, red polyps throughout the colon and rectum. Biopsy specimens showed stromal edema, infiltration of lymphocytes, and cystic dilatation of the crypt. Her clinical manifestations and histology were consistent with CCS. We prescribed corticosteroids, which dramatically improved her physical findings, laboratory data, and endoscopic findings. This is the first report of CCS in a patient with MDS.

  7. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

    Directory of Open Access Journals (Sweden)

    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  8. Devic syndrome associated to systemic lupus erythematosus. Case report.

    OpenAIRE

    Juan Camilo Botero; Alejandro García; Juliana Hidalgo

    2009-01-01

    El síndrome de Devic es una las enfermedades desmielinizantes del sistema nervioso central, de etiología desconocida. Se relaciona mucho con el lupus eritematoso sistémico siendo una complicación rara y grave. Este síndrome se presenta como mielitis transversa de compromiso a nivel cervical y neuritis óptica. Se describe el caso de de una paciente de 32 años, que se presentó al servicio de urgencias por dolor en región torácica, pérdida de la fuerza muscular progresiva en los miembros inferio...

  9. Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.

    Science.gov (United States)

    Lingaraju, Naresh; Nagarathna, P J; Vijayalakshmi, R; Sheshadri, P

    2013-01-01

    Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone deformity, scoliosis, barrel shaped rib cage, and short stature. The clinical, radiographic ad histologic features are reviewed along with management aspects.

  10. Wells' Syndrome Associated with Churg-Strauss Syndrome

    OpenAIRE

    Lee, Soo Hyun; Roh, Mi Ryung; Jee, Hyunjoong; Chung, Kee Yang; Jung, Jin Young

    2011-01-01

    Churg-Strauss syndrome (CSS) is a multisystem granulomatous vasculitis that is characterized by peripheral eosinophilia and the infiltration of eosinophils into systemic organs. The skin lesions of CSS consist mainly of palpable purpura and nodules. Wells' syndrome (WS) is a rare inflammatory dermatosis that is associated with recurrent granulomatous dermatitis and eosinophilia. Since these two diseases are rare, any overlap between them is very unusual. Herein, we report a patient with CSS, ...

  11. Flail arm–like syndrome associated with HIV-1 infection

    Science.gov (United States)

    Nalini, A.; Desai, Anita; Mahato, Simendra Kumar

    2009-01-01

    During the last 20 years at least 23 cases of motor neuron disease have been reported in HIV-1 seropositive patients. In this report we describe the clinical picture of a young man with HIV-1 clade C infection and flail arm-like syndrome, who we were able to follow-up for a long period. We investigated and prospectively monitored a 34-year-old man with features of flail arm syndrome, who developed the weakness and wasting 1 year after being diagnosed with HIV-1 infection after a routine blood test. He presented in 2003 with progressive, symmetrical wasting and weakness of the proximal muscles of the upper limb of 2 years' duration. He had severe wasting and weakness of the shoulder and arm muscles. There were no pyramidal signs. He has been on HAART for the last 4 years and the weakness or wasting has not worsened. At the last follow-up in July 2007, the patient had the same neurological deficit and no other symptoms or signs of HIV-1 infection. MRI of the spinal cord in 2007 showed characteristic T2 hyperintense signals in the central part of the spinal cord, corresponding to the central gray matter. Thus, our patient had HIV-1 clade C infection associated with a ‘flail arm–like syndrome.’ The causal relationship between HIV-1 infection and amyotrophic lateral sclerosis (ALS)-like syndrome is still uncertain. The syndrome usually manifests as a lower motor neuron syndrome, as was seen in our young patient. It is known that treatment with antiretroviral therapy (ART) stabilizes/improves the condition. In our patient the weakness and atrophy remained stable over a period of 3.5 years after commencing HAART regimen. PMID:20142861

  12. Sick sinus syndrome associated with topical timolol maleate instillation

    Directory of Open Access Journals (Sweden)

    Harpreet S Walia

    2011-01-01

    Full Text Available A 70-year-old black woman presented with intermittent palpitations and dyspnea was found to be bradycardic with a normal sinus rhythm. She had instilled her topical timolol maleate approximately 30 minutes prior to each of these episodes. Topical timolol was discontinued and the conduction abnormality resolved. She was diagnosed as having intermittent sinus bradycardia with intermittent atrioventricular block, likely induced by topical beta-blocker therapy. Topical timolol maleate is an effective treatment for ocular hypertension, acting by reducing aqueous fluid production. However, it can induce systemic side effects and should be used with caution in patients with, or predisposed to, cardiac or respiratory depression.

  13. Progressive anticonvulsant hypersensitivity syndrome associated with change of drug product

    DEFF Research Database (Denmark)

    Sabroe, T.P.; Sabers, A.

    2008-01-01

    This report describes the laboratory and physical manifestations of lamotrigine-like toxicity in a young man with refractory epilepsy receiving lamotrigine presenting as anticonvulsant hypersensitivity syndrome (AHS) associated with an abrupt change of drug product Udgivelsesdato: 2008/6...

  14. MRI imaging of posterior reversible encephalopathy syndrome associated with pregnancy

    Directory of Open Access Journals (Sweden)

    Noha Mohamed AbdelMaboud Ibrahim

    2014-06-01

    Conclusion: The diagnosis of PRES has important therapeutic and prognostic value. The use of diffusion-weighted imaging and ADC maps allows an earlier and clearer differentiation of cytotoxic and vasogenic edema, which can predict the development of infarction.

  15. Neuroleptic Malignant Syndrome Associated with Colon-Cancer

    OpenAIRE

    Katsuhiko Tsukada; Hiroshi Azuhata; Hiroaki Yonekura; Masashi Haraguchi; Hiroyuki Katoh; Hitoshi Kimura; Hiroyuki Kuwano

    2007-01-01

    Neuroleptic malignant syndrome (NMS), a potentially hazardous side effect of antipsychotic agents, usually develops within 10 days after receiving these agents. We describe a 65-year-old male who developed NMS after taking neuroleptics for alcohol dependence syndrome for several years. He was successfully treated by stopping these agents but three months later, an advanced sigmoid colon cancer was detected. He underwent surgery and the clinical course was uneventful. The present case is rare ...

  16. Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

    Directory of Open Access Journals (Sweden)

    Turan-Vural E

    2011-04-01

    Full Text Available Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with unilateral Fuchs' heterochromic uveitis.Keywords: Fuchs’ heterochromic uveitis, Usher syndrome, deafness, blindness

  17. Posterior compartment syndrome associated with clopidogrel therapy following trivial trauma

    OpenAIRE

    Byrne, A‐M; Kearns, S. R.; Kelly, E P

    2006-01-01

    Haematomata caused by blunt trauma may potentially induce a compartment syndrome by raising intra‐compartmental pressure. We report a case of acute posterior compartment syndrome following minimal trauma to the leg of an elderly patient on the antiplatelet agent clopidogrel. This case highlights the high index of clinical suspicion required to detect compartment syndrome in those on long term antiplatelet therapy and prompt surgical decompression is recommended.

  18. Parry-Romberg Syndrome Associated with Localized Scleroderma

    Directory of Open Access Journals (Sweden)

    Jelena Maletic

    2010-06-01

    Full Text Available Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea.

  19. Syndromes associated with labiopalatine clefting: A report of three cases

    Directory of Open Access Journals (Sweden)

    Thomas A

    2008-06-01

    Full Text Available Clefts of the lip and palate are a common craniofacial anomaly, The etiology is thought to be multifactorial, with both genetic and environmental factors playing a role. Because of the frequent manifestation of cleft lip and palate in association with some syndromes, it is essential that a detailed examination of these patients be carried out. This facilitates early formulation of preventive and treatment advice and aids in overcoming gross deformities in the early stages of development. In this paper, we review three such patients who presented with cleft lip and palate in association with a syndrome.

  20. [Sea-blue histiocyte syndrome associated with home parenteral nutrition].

    Science.gov (United States)

    Egaña, N; Parón, L; Cuerda, C; Bretón, I; Camblor, M; Velasco, C; García-Peris, P

    2009-01-01

    A case of a 55 years-old male with long-term Crohn's disease without response to medical treatment and many intestinal fistula is presented. After the last bowel resection, home parenteral nutrition was started. He presented chronic hepatopathy and pancytopaenia. After 9 months of home parenteral nutrition hepatic function and pancytopaenia began to deteriorate. Bone marrow examination revealed an infiltrate of sea-blue histiocytes. He made unsatisfactory progress and died due to a multiorganic failure.

  1. A case of Poland Syndrome associated with dextroposition

    Directory of Open Access Journals (Sweden)

    Guerrini Pietro

    2010-02-01

    Full Text Available Abstract Classical Poland Syndrome (PS is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in scientific literature. In all reported cases, as in the present, the Poland defect involved the left side and was associated to rib defects, whereas most cases of PS are on the right side and few have rib defects. This case supports the view that dextrocardia follows the loss of volume of the left hemithorax caused by Poland sequence and that the combination of PS and dextrocardia is not coincidental.

  2. Devic syndrome associated to systemic lupus erythematosus. Case report.

    Directory of Open Access Journals (Sweden)

    Juan Camilo Botero

    2009-11-01

    Full Text Available El síndrome de Devic es una las enfermedades desmielinizantes del sistema nervioso central, de etiología desconocida. Se relaciona mucho con el lupus eritematoso sistémico siendo una complicación rara y grave. Este síndrome se presenta como mielitis transversa de compromiso a nivel cervical y neuritis óptica. Se describe el caso de de una paciente de 32 años, que se presentó al servicio de urgencias por dolor en región torácica, pérdida de la fuerza muscular progresiva en los miembros inferiores, pérdida del control del esfínter urinario y disminución de la agudeza visual. También relató antecedentes de lupus eritematoso sistémico. Al examen físico se encontró atrofia y palidez del disco óptico derecho, disminución en la fuerza muscular 3/5 en miembros superiores e inferiores, alteración en la sensibilidad y propiocepción de extremidades inferiores. La resonancia magnética mostró hallazgos sugestivos de mielitis transversa de C2 a C6. En el laboratorio se encontraron anticuerpos anticardiolipina elevados y anticuerpos antinucleares: 1:320. Se manejó con esteroides, hubo notable mejoría en los síntomas y se le dio de alta al sexto día, con tratamiento ambulatorio. Los hallazgos al examen físico, laboratorio e imagenología permitieron hacer el diagnóstico de síndrome de Devic. Con base en la revisión bibliográfica, se concluye que este síndrome es poco frecuente; sin embargo, se debe tener en cuenta como posible diagnóstico en todo paciente con antecedentes de lupus eritematoso sistémico y síntomas compatibles.

  3. Neuroleptic Malignant Syndrome Associated with Refractory Acute Disseminated Encephalomyelitis

    Directory of Open Access Journals (Sweden)

    Silvia R. Delgado

    2016-04-01

    Full Text Available We present the case of a young man who was transferred to our hospital with worsening acute disseminated encephalomyelitis (ADEM despite treatment with intravenous methylprednisolone, intravenous immunoglobulin and plasma exchange. He developed neuroleptic malignant syndrome (NMS without the use of dopamine-modulating drugs. His progressive clinical improvement started after treatment with intravenous cyclophosphamide and methylprednisolone. In our patient, acute demyelination with severe bilateral inflammation of the basal ganglia could have caused a state of central dopamine depletion, creating proper conditions for the development of NMS. Significant clinical improvement of our case after treatment with intravenous cyclophosphamide and steroids provides further evidence for a possible role of the inflammatory lesions in the pathogenesis of NMS in association with ADEM.

  4. Meige's syndrome associated with basal ganglia and thalamic functional disorders

    International Nuclear Information System (INIS)

    Magnetic resonance imaging (MRI) or single positron emission computed tomography (SPECT) or both were performed and the responses of surface electromyography (EMG) were examined in seven cases of Meige's syndrome. MRI or SPECT or both demonstrated lesions of the basal ganglia, the thalamus, or both in five of the cases. Surface EMG revealed abnormal burst discharges in the orbicularis oculi and a failure of reciprocal muscular activity between the frontalis and orbicularis oculi in all the cases. These findings suggest that voluntary motor control and reciprocal activity in the basal ganglia-thalamocortical circuits are impaired in Meige's syndrome. In addition, good responses were seen to clonazepam, tiapride and trihexyphenidyl in these cases. Therefore, we conclude that dopaminergic, cholinergic, and γ-aminobutyric acid (GABA) ergic imbalances in the disorders of the basal ganglia and thalamus in Meige's syndrome cause control in the excitatory and inhibitory pathways to be lost, resulting in the failure of integration in reciprocal muscular activity and voluntary motor control. This failure subsequently causes the symptoms of Meige's syndrome. (author)

  5. Acquired immunodeficiency syndrome associated with blood-product transfusions

    Energy Technology Data Exchange (ETDEWEB)

    Jett, J.R.; Kuritsky, J.N.; Katzmann, J.A.; Homburger, H.A.

    1983-11-01

    A 53-year-old white man had fever, malaise, and dyspnea on exertion. His chest roentgenogram was normal, but pulmonary function tests showed impaired diffusion capacity and a gallium scan showed marked uptake in the lungs. Results of an open-lung biopsy documented Pneumocystis carinii pneumonia. Immunologic test results were consistent with the acquired immunodeficiency syndrome. The patient denied having homosexual contact or using intravenous drugs. Twenty-nine months before the diagnosis of pneumocystis pneumonia was made, the patient had had 16 transfusions of whole blood, platelets, and fresh-frozen plasma during coronary artery bypass surgery at another medical center. This patient is not a member of any currently recognized high-risk group and is believed to have contracted the acquired immunodeficiency syndrome from blood and blood-product transfusions.

  6. Primary immunodeficiency update I: Syndromes associated with eczematous dermatitis

    Science.gov (United States)

    Pichard, Dominique C.; Freeman, Alexandra F.; Cowen, Edward W.

    2015-01-01

    In the past decade, the availability of powerful molecular techniques has accelerated the pace of discovery of several new primary immunodeficiencies (PID) and revealed the biologic basis of other established PID. These genetic advances, in turn, have facilitated more precise phenotyping of associated skin and systemic manifestations and provide a unique opportunity to better understand the complex human immunologic response. These continuing medical education articles will provide an update of recent advances about PID that may be encountered by dermatologists through their association with eczematous dermatitis, infectious, and non-infectious cutaneous manifestations. Part I will discuss new primary immunodeficiencies that have an eczematous dermatitis. Part II will focus on primary immunodeficiencies that greatly increase susceptibility to fungal infection and the noninfectious presentations of PID. PMID:26282794

  7. Neuroleptic malignant syndrome associated with metoclopramide in a child.

    Science.gov (United States)

    Yaman, Ayhan; Kendirli, Tanıl; Ödek, Çağlar; Yıldız, Caner; Beğde, Fırat; Erkol, Hatice; İnce, Erdal

    2014-01-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal complication of treatment with antipsychotic medication. NMS has also been associated with non-neuroleptic agents that block central dopamine pathways, such as metoclopramide, amoxapine and lithium. Metoclopromide has antidopaminergic properties and is a rare but well-recognized perpetrator in the development of NMS. NMS has a constellation of signs and symptoms, including hyperthermia, muscle rigidity, autonomic instability, tachycardia, tachypnea, diaphoresis, hypertension and altered mental status. We present a 2-year-old girl who developed neuroleptic malignant syndrome after metoclopromide therapy. High-dose metoclopromide was given to our patient, and it is very likely that she was dehydrated while using metoclopromide, as she developed NMS two hours after treatment. The patient was discharged on the sixth day after admission to our hospital, having been cured. In summary, NMS developed in this patient very soon after metoclopromide treatment. NMS is a life-threatening emergency; if not recognized, or left untreated, it may be fatal. Therefore, early recognition of the developing signs and symptoms, along with a thorough medical history, is of great importance.

  8. Reversible sinusoidal obstruction syndrome associated with tacrolimus following liver transplantation

    OpenAIRE

    Shen, Tian; Feng, Xiao-Wen; Geng, Lei; Zheng, Shu-Sen

    2015-01-01

    Sinusoidal obstruction syndrome (SOS), previously known as hepatic veno-occlusive disease, is a rare disorder in solid organ transplant patients, and is an uncommon complication after liver transplantation. Severe SOS with hepatic failure causes considerable mortality. Tacrolimus has been reported to be an offending agent, which potentially plays a role in the pathophysiological process of SOS. SOS due to tacrolimus has been reported in lung and pancreatic transplantations, but has never been...

  9. Reversible sinusoidal obstruction syndrome associated with tacrolimus following liver transplantation

    Science.gov (United States)

    Shen, Tian; Feng, Xiao-Wen; Geng, Lei; Zheng, Shu-Sen

    2015-01-01

    Sinusoidal obstruction syndrome (SOS), previously known as hepatic veno-occlusive disease, is a rare disorder in solid organ transplant patients, and is an uncommon complication after liver transplantation. Severe SOS with hepatic failure causes considerable mortality. Tacrolimus has been reported to be an offending agent, which potentially plays a role in the pathophysiological process of SOS. SOS due to tacrolimus has been reported in lung and pancreatic transplantations, but has never been described in a liver transplant recipient. Herein, we present a case of SOS after liver transplantation, which was possibly related to tacrolimus. A 27-year-old man developed typical symptoms of SOS with painful hepatomegaly, ascites and jaundice after liver transplantation, which regressed following withdrawal of tacrolimus. By excluding other possible predisposing factors, we concluded that tacrolimus was the most likely cause of SOS. PMID:26034381

  10. Loose anagen hair syndrome associated with colobomas and dysmorphic features

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

    2004-01-01

    Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other ano...

  11. Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia

    Institute of Scientific and Technical Information of China (English)

    Siham Al Sinani; Yusria Al Rawahi; Hamed Abdoon

    2012-01-01

    A number of disorders have been described to cause protein losing enteropathy (PLE) in children.Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE.Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them.The principal treatment for PIL is a high protein,low fat diet with medium chain triglycerides supplementation.Supportive therapy includes albumin infusion.Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL.There are no publications on the treatment of PIL with octreotide in patients with HS.We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss.In one patient,octreotide increased serum albumin to an acceptable level without further need for albumin infusions.The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions.In achieving a good response to octreotide in both patients,we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS.To the best of our knowledge,this is the first case report on the use of octreotide in HSassociated PIL.

  12. Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis

    OpenAIRE

    Akuma, A. O.; Mittal, S K; Sambo, A. A.

    2013-01-01

    A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child....

  13. Sweet’s syndrome associated with Hashimoto’s thyroiditis

    OpenAIRE

    Francisco, Christina Raissa I; Patal, Perpetua C; Cubillan, Eileen A; Isip-Tan, Iris Thiele

    2011-01-01

    Sweet’s syndrome or acute febrile neutrophilic dermatosis is characterised by the abrupt onset of painful erythematous plaques or nodules, pyrexia (>38°F) and histopathologic evidence of a dense neutrophilic infiltrate without vasculitis. It has been reported in association with many diseases, however, its association with Hashimoto’s thyroiditis is rare. A 47-year-old Filipino woman with a 30-year history of an asymptomatic anterior neck mass developed painful, erythematous annular plaques o...

  14. Sweet Syndrome Associated with Upper Respiratory Infection and Amoxicillin Use.

    Science.gov (United States)

    Volpe, Mark

    2016-01-01

    Sweet syndrome (acute febrile neutrophilic dermatosis) is an uncommon dermatologic eruption characterized by acute onset of painful papules, plaques or nodules on the skin that are red, blue, or violaceous in color. It has been associated with various infections, medications, and malignancies. Here we report the case of a middle-aged male who presents with Sweet syndrome after an upper resipiratory infection and while using amoxicillin. We also review the diagnostic criteria, laboratory testing, and treatment options. PMID:27186450

  15. Sweet's syndrome associated with cellulitis - a challenging diagnosis*

    OpenAIRE

    Resende, C; Santos, R.; T. Pereira; Brito, C.

    2016-01-01

    Sweet's syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evolution). Take...

  16. Sweet Syndrome Associated with Pregnancy: A Case Report

    Directory of Open Access Journals (Sweden)

    Seval Doğruk Kaçar

    2015-10-01

    Full Text Available Acute febrile neutrophilic dermatosis also known as Sweet Syndrome is an inflammatory skin disease with an unknown etiopathogenesis, characterized clinically by sudden onset, painful papules, nodules and plaques and histopathologically dense dermal neutrophilic infiltrate. Malignancies, drugs, infections, systemic inflammatory diseases and rarely pregnancy are all considered in the etiology. Here is a patient diagnosed as Sweet Syndrome, with lesions appeared shortly after delivery in her first pregnancy and in the last trimester in her second pregnancy. Her lesions quickly responded to systemic steroid treatment.

  17. A Case of Gardner's Syndrome Associated with Desmoid Tumor

    OpenAIRE

    Chung, Jimin; Namkoong, Sun; Jung, Kyoung Eun; Park, Jong Wook; Park, Byung Cheol; Cinn, Yong Woo; Kim, Myung Hwa

    2010-01-01

    Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner's syndrome. Herein, we report a 16-year-old woman with Gardner's syndrome complicated by desmoid tumors on the right subscapular area.

  18. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    International Nuclear Information System (INIS)

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

  19. Kounis syndrome associated with amoxicillin/clavulanic acid

    Directory of Open Access Journals (Sweden)

    A Shimi

    2016-01-01

    Full Text Available Kounis syndrome (KS is a life-threatening medical condition that causes severes allergic reaction and acute coronary syndrome (ACS. We describe the case of 56-year-old woman who developed ACS following an anaphylactic reaction to amoxicillin/clavulanic acid. Immediately after the administration of amoxicillin/clavulanic acid, she presented a chest pain, cutaneous allergic, hypotension, and ST depression on the electrocardiogram. After the necessary diagnostic test, the final diagnosis was variant I of KS.

  20. Duane's retraction syndrome associated with morning glory syndrome.

    Science.gov (United States)

    Kawano, K; Fujita, S

    1981-01-01

    A 9-year-old boy with Duane's retraction syndrome and morning glory syndrome is presented. The right eye showed a grayish-pink optic disc, which had a deep excavation containing a white mass in its center and was surrounded by an annulus of pigment disturbance, i.e., consistent with the features of morning glory syndrome. The left eye had a congenital disturbance of ocular motility, which was typical of Duane's retraction syndrome. This is probably the first report of the association of Duane's retraction syndrome and morning glory syndrome. It is hypothesized that a noxious stimulus given at around two months of gestation was responsible for this rare association.

  1. Multiple organ dysfunction syndrome associated with Mycoplasma pneumoniae infection

    Directory of Open Access Journals (Sweden)

    Shu-Bo Zhai

    2012-03-01

    Full Text Available In this study, we report one case of a three-year-old boy infected with Mycoplasma pneumonia (MP and presenting concomitant multiple organ damage of the heart, kidney, lung and liver, among others, together with a brief review for the diagnosis and treatment of MP infection with multiple organ dysfunction syndrome (MODS.

  2. Is pseudoexfoliation syndrome associated with coronary artery disease?

    Directory of Open Access Journals (Sweden)

    Mehmet Yunus Emiroglu

    2010-01-01

    Full Text Available Background: Pseudoexfoliation syndrome (PEX is recognised by chronic deposition of abnormal pseudoexfoliation material on anterior segment structures of the eye, especially the anterior lens capsule. In recent years, several studies have shown the presence of vascular, cardiac and other organ pseudoexfoliative material in patients with ocular pseudoexfoliation. Aims : The purpose of this study is to determine whether an association exists between ocular pseudoexfoliation and coronary artery disease, aortic aneurysms and peripheric vascular disease. Patients and Methods: 490 patients who underwent coronary angiography (CAG at Kosuyolu Cardiovascula Research and Training Hospital were included in the study. Patients were evaluated for conventional risk factors such as age, sex, family history, hypertension, diabetes, dislipidemia and smoking. Detailed eye examinations including evaluation of lens were done in all patients. The presence of PEX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. The patients were divided into two groups according to the presence of PEX, and compared for the presence of CAD and other risk factors. Results: CAD was present in 387 patients. 103 patients had normal coronary angiography. 20 (5.2 % of CAD patients and 4 (3.9% of normal CAG patients were found to have PEX (p>0.05. There was no significant relationship between CAD and the presence of PEX (p>0.05. When patients were grouped according to the presence of PEX, only age was significantly different between the two groups (r: 0.25, p<0.001. Conclusion: There is no significant relationship between the presence of PEX and CAD. Further studies in larger scales with elderly population may be more valuable.

  3. [Fructose Consumption and the Metabolic Syndrome: Association or Causality?].

    Science.gov (United States)

    Gerber, Philipp A

    2016-06-22

    Fructose consumption has increased significantly during the past decades – in particular by using added sugar in food and beverages, either sugars containing free fructose, but also sugars containing fructose in bound form (e. g. sucrose). The metabolism of fructose exhibits distinct differences compared to the metabolism of glucose. Association studies performed in the past years suggest an association of fructose consumption and adverse effects on metabolism. Intervention studies, conducted in part with healthy individuals, could prove such effects and deliver explanations of the mechanisms leading to these adverse effects. A reduction of consumption of added fructose should be recommended, but there is no evidence to support a restriction of fruit consumption (as a natural source of fructose). PMID:27329707

  4. Acute respiratory distress syndrome associated with severe ulcerative colitis

    Institute of Scientific and Technical Information of China (English)

    Shiho; Sagara; Yasuo; Horie; Yumiko; Anezaki; Hideaki; Miyazawa; Masahiro; Iizuka

    2010-01-01

    Various extraintestinal manifestations including pulmonary abnormalities have been reported in patients with ulcerative colitis. Acute respiratory distress syndrome (ARDS) is a serious and fatal pulmonary manifestation. We have experienced a 67-year-old male patient with ARDS associated with a severe type of ulcerative colitis (UC). Severe dyspnea symptoms occurred during the treatment of UC in a previous hospital and the patient was transferred to our hospital on June 27, 2007. Both blood and sputa culture...

  5. Visual hallucinations (Charles Bonnet syndrome) associated with neurosarcoidosis.

    Science.gov (United States)

    Zhang, Jason; Waisbren, Emily; Hashemi, Nafiseh; Lee, Andrew G

    2013-01-01

    The Charles Bonnet syndrome (CBS) refers to lucid and complex visual hallucinations in cognitively normal patients with acquired vision loss. It can be associated with any type of vision loss including that related to macular degeneration, corneal disease, diabetic retinopathy, and occipital infarct. Neurosarcoidosis, a multi-systemic inflammatory granulomatous disease affecting both the central and peripheral nervous systems, is rarely associated with CBS. We report a patient with biopsy-confirmed neurosarcoidosis who experienced visual hallucinations following the development of a right seventh-nerve palsy, right facial paresthesia, and bilateral progressive visual loss. This case highlights the importance of recognizing that the CBS can occur in visual loss of any etiology.

  6. Visual hallucinations (Charles Bonnet syndrome associated with neurosarcoidosis

    Directory of Open Access Journals (Sweden)

    Jason Zhang

    2013-01-01

    Full Text Available The Charles Bonnet syndrome (CBS refers to lucid and complex visual hallucinations in cognitively normal patients with acquired vision loss. It can be associated with any type of vision loss including that related to macular degeneration, corneal disease, diabetic retinopathy, and occipital infarct. Neurosarcoidosis, a multi-systemic inflammatory granulomatous disease affecting both the central and peripheral nervous systems, is rarely associated with CBS. We report a patient with biopsy-confirmed neurosarcoidosis who experienced visual hallucinations following the development of a right seventh-nerve palsy, right facial paresthesia, and bilateral progressive visual loss. This case highlights the importance of recognizing that the CBS can occur in visual loss of any etiology.

  7. Flail arm-like syndrome associated with HIV-1 infection

    Directory of Open Access Journals (Sweden)

    Nalini A

    2009-01-01

    Full Text Available During the last 20 years at least 23 cases of motor neuron disease have been reported in HIV-1 seropositive patients. In this report we describe the clinical picture of a young man with HIV-1 clade C infection and flail arm-like syndrome, who we were able to follow-up for a long period. We investigated and prospectively monitored a 34-year-old man with features of flail arm syndrome, who developed the weakness and wasting 1 year after being diagnosed with HIV-1 infection after a routine blood test. He presented in 2003 with progressive, symmetrical wasting and weakness of the proximal muscles of the upper limb of 2 years′ duration. He had severe wasting and weakness of the shoulder and arm muscles. There were no pyramidal signs. He has been on HAART for the last 4 years and the weakness or wasting has not worsened. At the last follow-up in July 2007, the patient had the same neurological deficit and no other symptoms or signs of HIV-1 infection. MRI of the spinal cord in 2007 showed characteristic T2 hyperintense signals in the central part of the spinal cord, corresponding to the central gray matter. Thus, our patient had HIV-1 clade C infection associated with a ′flail arm-like syndrome.′ The causal relationship between HIV-1 infection and amyotrophic lateral sclerosis (ALS-like syndrome is still uncertain. The syndrome usually manifests as a lower motor neuron syndrome, as was seen in our young patient. It is known that treatment with antiretroviral therapy (ART stabilizes/improves the condition. In our patient the weakness and atrophy remained stable over a period of 3.5 years after commencing HAART regimen.

  8. Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.

    Science.gov (United States)

    Lingaraju, Naresh; Nagarathna, P J; Vijayalakshmi, R; Sheshadri, P

    2013-01-01

    Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone deformity, scoliosis, barrel shaped rib cage, and short stature. The clinical, radiographic ad histologic features are reviewed along with management aspects. PMID:23579912

  9. Bilateral carpal tunnel syndrome associated with interleukin 2 therapy.

    OpenAIRE

    Heys, S. D.; Mills, K. L.; Eremin, O.

    1992-01-01

    We report the development of synchronous bilateral carpal tunnel syndrome in a woman with metastatic colorectal cancer, undergoing treatment with recombinant interleukin 2. A carpal tunnel decompression was carried out on the hand which was more severely affected, with a gradual recovery in median nerve function. To the best of our knowledge, this is the first reported case of carpal tunnel syndrome in association with recombinant interleukin 2.

  10. Brain abscess in hepatopulmonary syndrome associated with biliary atresia.

    Science.gov (United States)

    Morita, Keiichi; Fukuzawa, Hiroaki; Maeda, Kosaku

    2015-12-01

    The first-choice therapy for biliary atresia (BA) is Kasai hepatoportoenterostomy, which has been shown to greatly improve outcome. Various long-term complications, however, such as portal hypertension and hepatopulmonary syndrome (HPS), can occur in patients with native liver. A rare case of brain abscess in an 11-year-old girl with HPS associated with BA is reported. The patient underwent hepatoportoenterostomy for BA at 53 days of age, with resolution of hyperbilirubinemia. At 10 years of age, she was diagnosed with severe HPS with right-to-left shunting, and preparations for liver transplantation proceeded. Three months after the diagnosis, she had a right parietal brain abscess. Given that the brain abscess enlarged in size, surgical drainage of the brain abscess was performed. The postoperative course was uneventful, but a slight left hemiplegia remained at discharge. The presumed mechanism of abscess formation in HPS may be right-to-left bacterial transit through intrapulmonary vascular dilatations and/or arteriovenous fistulae. PMID:26711920

  11. A lupus-like syndrome associated with infliximab therapy.

    Science.gov (United States)

    Klapman, Jason B; Ene-Stroescu, Daniel; Becker, Michael A; Hanauer, Stephen B

    2003-05-01

    Infliximab, a chimeric monoclonal antibody targeting tumor necrosis factor alpha (TNF-alpha), is efficacious in the treatment of rheumatoid arthritis and Crohn's disease. We report in detail an unusual adverse reaction to infliximab therapy, a drug-induced lupus-like clinical syndrome. A 45-year-old woman with steroid-dependent Crohn's colitis, successfully managed with maintenance infliximab infusions and methotrexate, developed a lupus-like syndrome eight months after her initial infusion. This was characterized by inflammatory arthritis and an urticarial and papulosquamous rash and was accompanied by high titers of antinuclear, double-stranded DNA, glomerular-binding, and histone antibodies and by reduced levels of the C4 component of complement. After discontinuance of infliximab infusions and treatment of symptoms with intermittent courses of prednisone, the patient's arthritis progressively improved, with accompanying decrements in autoantibody titers. One year later, she has minimal joint discomfort and no rash or gastrointestinal symptoms despite also discontinuing prednisone and methotrexate. Infliximab therapy may cause a lupus-like syndrome that is reversible upon discontinuing this agent. These findings support recent evidence identifying TNF-alpha as an inhibitor of autoantibody formation.

  12. Small Wind Energy Systems

    DEFF Research Database (Denmark)

    Simoes, Marcelo; Farret, Felix Alberto; Blaabjerg, Frede

    2015-01-01

    devices, and a centralized distribution control. In order to establish a small wind energy system it is important to observe the following: (i) Attending the energy requirements of the actual or future consumers; (ii) Establishing civil liabilities in case of accidents and financial losses due to shortage...... or low quality of energy; (iii) Negotiating collective conditions to interconnect the microgrid with the public network or with other sources of energy that is independent of wind resources; (iv) Establishing a performance criteria of power quality and reliability to end-users, in order to reduce costs...... and guaranteeing an acceptable energy supply. This paper discuss how performance is affected by local conditions and random nature of the wind, power demand profiles, turbine related factors, and presents the technical issues for implementing a self-excited induction generator system, or a permanent magnet based...

  13. Small caliber guided projectile

    Science.gov (United States)

    Jones, James F.; Kast, Brian A.; Kniskern, Marc W.; Rose, Scott E.; Rohrer, Brandon R.; Woods, James W.; Greene, Ronald W.

    2010-08-24

    A non-spinning projectile that is self-guided to a laser designated target and is configured to be fired from a small caliber smooth bore gun barrel has an optical sensor mounted in the nose of the projectile, a counterbalancing mass portion near the fore end of the projectile and a hollow tapered body mounted aft of the counterbalancing mass. Stabilizing strakes are mounted to and extend outward from the tapered body with control fins located at the aft end of the strakes. Guidance and control electronics and electromagnetic actuators for operating the control fins are located within the tapered body section. Output from the optical sensor is processed by the guidance and control electronics to produce command signals for the electromagnetic actuators. A guidance control algorithm incorporating non-proportional, "bang-bang" control is used to steer the projectile to the target.

  14. Small Business Innovations

    Science.gov (United States)

    1996-01-01

    Under a Small Business Innovation Research (SBIR) contract to Kennedy Space Center, EIC Laboratories invented a Raman Spectrograph with fiber optic sampling for space applications such as sensing hazardous fuel vapors and making on-board rapid analyses of chemicals and minerals. Raman spectroscopy is a laser-based measurement technique that provides through a unique vibrational spectrum a molecular 'fingerprint,' and can function in aqueous environments. EIC combined optical fiber technology with Raman methods to develop sensors that can be operated at a distance from the spectrographic analysis instruments and the laser excitation source. EIC refined and commercialized the technology to create the Fiber Optic Raman Spectrograph and the RamanProbe. Commercial applications range from process control to monitoring hazardous materials.

  15. Small intestinal transplantation.

    LENUS (Irish Health Repository)

    Quigley, E M

    2012-02-03

    The past few years have witnessed a considerable shift in the clinical status of intestinal transplantation. A great deal of experience has been gained at the most active centers, and results comparable with those reported at a similar stage in the development of other solid-organ graft programs are now being achieved by these highly proficient transplant teams. Rejection and its inevitable associate, sepsis, remain ubiquitous, and new immunosuppressant regimes are urgently needed; some may already be on the near horizon. The recent success of isolated intestinal grafts, together with the mortality and morbidity attendant upon the development of advanced liver disease related to total parenteral nutrition, has prompted the bold proposal that patients at risk for this complication should be identified and should receive isolated small bowel grafts before the onset of end-stage hepatic failure. The very fact that such a suggestion has begun to emerge reflects real progress in this challenging field.

  16. Seminar on small PWRs

    International Nuclear Information System (INIS)

    The first of the three papers presented, reviews the history of small and medium power reactors. Although the category includes all reactors with an output up to 600MWe, the concentration is on the range 250-300MWe. Their suitability for developing countries and their economic aspects are discussed. The other two papers are concerned with the construction, transportation, installation and management of the Shore Test Facility for the prototype of the PWR 2, a reactor designed for use in submarines. The test facility was built at Barrow-in-Furness and then moved to its site in Caithness, Scotland. The methods used to move the enormous loads involved are described in detail. The construction and installation was planned over 5 years and involved a large number of people from the construction company, the Royal Navy and the contractors who operate the facility. The project management is described. (U.K.)

  17. Small Active Radiation Monitor

    Science.gov (United States)

    Badhwar, Gautam D.

    2004-01-01

    A device, named small active radiation monitor, allows on-orbit evaluations during periods of increased radiation, after extravehicular activities, or at predesignated times for crews on such long-duration space missions as on the International Space Station. It also permits direct evaluation of biological doses, a task now performed using a combination of measurements and potentially inaccurate simulations. Indeed the new monitor can measure a full array of radiation levels, from soft x-rays to hard galactic cosmic-ray particles. With refinement, it will benefit commercial (nuclear power-plant workers, airline pilots, medical technicians, physicians/dentists, and others) and military personnel as well as the astronauts for whom thermoluminescent dosimeters are inadequate. Civilian and military personnel have long since graduated from film badges to thermoluminescent dosimeters. Once used, most dosimeters must be returned to a central facility for processing, a step that can take days or even weeks. While this suffices for radiation workers for whom exposure levels are typically very low and of brief duration, it does not work for astronauts. Even in emergencies and using express mail, the results can often be delayed by as much as 24 hours. Electronic dosimeters, which are the size of electronic oral thermometers, and tattlers, small electronic dosimeters that sound an alarm when the dose/dose rate exceeds preset values, are also used but suffer disadvantages similar to those of thermoluminescent dosimeters. None of these devices fully answers the need of rapid monitoring during the space missions. Instead, radiation is monitored by passive detectors, which are read out after the missions. Unfortunately, these detectors measure only the absorbed dose and not the biologically relevant dose equivalent. The new monitor provides a real-time readout, a time history of radiation exposures (both absorbed dose and biologically relevant dose equivalent), and a count of the

  18. Small rover exploration capabilities

    Science.gov (United States)

    Salotti, Jean-Marc; Laithier, Corentin; Machut, Benoit; Marie, Aurélien; Bruneau, Audrey; Grömer, Gernot; Foing, Bernard H.

    2015-05-01

    For a human mission to the Moon or Mars, an important question is to determine the best strategy for the choice of surface vehicles. Recent studies suggest that the first missions to Mars will be strongly constrained and that only small unpressurized vehicles will be available. We analyze the exploration capabilities and limitations of small surface vehicles from the user perspective. Following the “human centered design” paradigm, the team focused on human systems interactions and conducted the following experiments: - Another member of our team participated in the ILEWG EuroMoonMars 2013 simulation at the Mars Desert Research Station in Utah during the same period of time. Although the possible traverses were restricted, a similar study with analog space suits and quads has been carried out. - Other experiments have been conducted in an old rock quarry close to Bordeaux, France. An expert in the use of quads for all types of terrains performed a demonstration and helped us to characterize the difficulties, the risks and advantages and drawbacks of different vehicles and tools. The vehicles that will be used on the surface of Mars have not been defined yet. Nevertheless, the results of our project already show that using a light and unpressurized vehicle (in the order of 150 kg) for the mobility on the Martian surface can be a true advantage. Part of the study was dedicated to the search for appropriate tools that could be used to make the vehicles easier to handle, safer to use and more efficient in the field to cross an obstacle. The final recommendation is to use winches and ramps, which already are widely used by quad drivers. We report on the extension of the reachable areas if such tools were available. This work has been supported by ILEWG, EuroMoonMars and the Austrian Space Forum (OEWF).

  19. Small intestine aspirate and culture

    Science.gov (United States)

    ... ency/article/003731.htm Small intestine aspirate and culture To use the sharing features on this page, please enable JavaScript. Small intestine aspirate and culture is a lab test to check for infection ...

  20. Small Area Fair Market Rent

    Data.gov (United States)

    Department of Housing and Urban Development — Due to the increasing demand for more localized rents for a variety of purposes, HUD is making Small Area FMRs for all metropolitan areas available. Small Area FMRs...

  1. Small intestine contrast injection (image)

    Science.gov (United States)

    ... and throat, through the stomach into the small intestine. When in place, contrast dye is introduced and ... means of demonstrating whether or not the small intestine is normal when abnormality is suspected.

  2. Quality and the Small School.

    Science.gov (United States)

    Hildebrand, Edwin P., Ed.

    The 1965-1968 progress report of the Western States Small Schools Project focuses on the problem and challenge posed by small schools, which have thus far lacked the depth of resources compared to urban schools. The goals of the project are to assist small schools to: (1) provide individualized programs of career selection education; (2) develop…

  3. Modified Small Business Network Security

    Directory of Open Access Journals (Sweden)

    Md. Belayet Ali

    2012-02-01

    Full Text Available This paper covers some likely threats and effectivesteps for a secure small business. It also involves a flowchart tocomprehend the overall small business network security easilyand we identify a set of security issues and applyappropriate techniques to satisfy the correspondingsecurity requirements. In respect of all, this document isstrong enough for any small business network security.

  4. Small Stirling Cycle Convertors

    Science.gov (United States)

    Penswick, L. Barry; Schreiber, Jeffery

    2005-02-01

    The Stirling convertor concept continues to be a viable potential candidate for various space power applications at electrical power levels ranging from greater than 100 KW to on the order of 10+watts. Various development efforts, both in the past and currently underway, have clearly demonstrated the potential for long operating life of this concept, its high efficiency in comparison to alternative power systems (>50% of Carnot based on electric power out to heat in), and its excellent specific power characteristics. A truly unique attribute of the Stirling convertor is the ability to maintain many of these same advantages at significantly lower electrical power levels (on the order of 1 watt and below). This provides the opportunity for a wider range of potential space power applications and the use of alternative heat sources operating at dramatically lower hot-end temperatures (about 250 °C vs. current values of about 650 °C). An overview of low-power Stirling convertors and related Stirling cooler technology is provided with an emphasis on assessing the technical maturity of this concept's key components at the low power level of interest. A conceptual design of a small, 1-watt (electrical output) Stirling convertor utilizing multiple Low Weight Radioisotope Heater Unit heat sources will be described. Key technical issues in the development of this power level Stirling convertor are discussed.

  5. Small Hydropower in Nigeria

    Institute of Scientific and Technical Information of China (English)

    P.EOKRANEFE; S.OWOLABI

    2002-01-01

    Nigeria is the most populaous black nation in the world. It has an area of 913,072 square kilometres. The country population is about 120 million. There are three major languages, Hausa, Yoruba and Igbo, although there is still more than 380 dialects in local languages. There are large number of household on the African continent that are unelectrified.In Nigeria about 70 million people remain literally in the dark without access to electricity. The majority of these numbers are in the rural areas. This workshop is apt in a number of ways. It is a joint effort between government, private sector, the academic and other practitioners in small hydro power station, it is also a promotion of business and industrial activities as well as development of renewable energy resources. I wish to commend the organizers of this workshop. The focus of the workshop is relevant to the agenda of the Federal Ministry of Power and Steel and aspirations of the Federal Government of Nigeria to provide regular and steady electricity to majority of Nigerians before the end of year 2001.

  6. Small Cell Lung Cancer.

    Science.gov (United States)

    Bernhardt, Erica B; Jalal, Shadia I

    2016-01-01

    Small cell lung cancer (SCLC) is an aggressive cancer of neuroendocrine origin, which is strongly associated with cigarette smoking. Patients typically present with a short duration of symptoms and frequently (60-65 %) with metastatic disease. SCLC is a heterogeneous disease including extremely chemosensitive and chemoresistant clones. For this reason, a high percentage of patients respond to first-line chemotherapy but rapidly succumb to the disease. SCLC is generally divided into two stages, limited and extensive. Standard treatment of limited stage disease includes combination chemotherapy with cisplatin and etoposide for four cycles, thoracic radiation initiated early with the first cycle of chemotherapy, and consideration of prophylactic cranial irradiation (PCI) in the subset of patients with good response. Surgery may play a role in TNM stages I and II. In extensive disease, platinum agents and etoposide, used in combination, are again the first-line standard of care in the USA. However, thoracic radiation therapy is used predominately in patients where local control is important and PCI is of uncertain benefit. Despite these treatments, prognosis remains poor and novel therapies are needed to improve survival in this disease. PMID:27535400

  7. Exposition regarding small windmills

    International Nuclear Information System (INIS)

    Emphasis is laid on the elucidation of the current situation of small windmills in Denmark by estimating the industry's strengths and weaknesses and evaluating the technical status and user economy relevant to these wind turbines, in addition to their technical and marketing potentials within the next 3-5 years. It is also attempted to survey and forecast their situation within a competitive market which includes marketing and sales potential outside Denmark, often by way of development projects financed by DANIDA (Danish International Development Agency, a department under the Danish Foreign Ministry that takes responsibility for Danish aid to developing countries, often by direct agreement). It is noted that it is difficult to make predictions in the light of currently rapidly changing global political aspects, but it is suggested that sales of smaller Danish windmills within the country could amount to 300-700 wind turbines by the year 2000. Regarding sales abroad, it is concluded that the current number will not increase unless great efforts are made within the export market and the instigation of close cooperation with foreign companies which use an international sales network and have access to local distribution channels. (AB) (15 refs.)

  8. Research using small tokamaks

    International Nuclear Information System (INIS)

    The technical reports contained in this collection of papers on research using small tokamaks fall into four main categories, i.e., (i) experimental work (heating, stability, plasma radial profiles, fluctuations and transport, confinement, ultra-low-q tokamaks, wall physics, a.o.), (ii) diagnostics (beam probes, laser scattering, X-ray tomography, laser interferometry, electron-cyclotron absorption and emission systems), (iii) theory (strong turbulence, effects of heating on stability, plasma beta limits, wave absorption, macrostability, low-q tokamak configurations and bootstrap currents, turbulent heating, stability of vortex flows, nonlinear islands growth, plasma-drift-induced anomalous transport, ergodic divertor design, a.o.), and (iv) new technical facilities (varistors applied to establish constant current and loop voltage in HT-6M), lower-hybrid-current-drive systems for HT-6B and HT-6M, radio-frequency systems for HT-6M ICR heating experimentation, and applications of fiber optics for visible and vacuum ultraviolet radiation detection as applied to tokamaks and reversed-field pinches. A total number of 51 papers are included in the collection. Refs, figs and tabs

  9. 48 CFR 970.1907 - Subcontracting with Small Business, Small Disadvantaged Business and Woman-Owned Small Business...

    Science.gov (United States)

    2010-10-01

    ... MANAGEMENT AND OPERATING CONTRACTS Small, Small Disadvantaged and Women-Owned Small Business Concerns 970.1907 Subcontracting with Small Business, Small Disadvantaged Business and Woman-Owned Small Business... Business, Small Disadvantaged Business and Woman-Owned Small Business Concerns. 970.1907 Section...

  10. The protein X4 of severe acute respiratory syndrome-associated coronavirus is expressed on both virus-infected cells and lung tissue of severe acute respiratory syndrome patients and inhibits growth of Balb/c 3T3 cell line

    Institute of Scientific and Technical Information of China (English)

    CHEN Ying-yu; GAN Qi-ni; ZHANG Xin; ZHENG Ying; LIU Shun-ai; WANG Xiao-ning; ZHONG Nan-shan; MA Da-long; SHUANG Bao; TAN Ya-xia; MENG Min-jie; HAN Pu; MO Xiao-ning; SONG Quan-sheng; QIU Xiao-yan; LUO Xin

    2005-01-01

    Background The genome of the severe acute respiratory syndrome-associated coronavirus (SARS-CoV) includes sequences encoding the putative protein X4 (ORF8, ORF7a), consisting of 122 amino acids. The deduced sequence contains a probable cleaved signal peptide sequence and a C-terminal transmembrane helix, indicating that protein X4 is likely to be a type I membrane protein. This study was conducted to demonstrate whether the protein X4 was expressed and its essential function in the process of SARS-CoV infection.Methods The prokaryotic and eukaryotic protein X4-expressing plasmids were constructed. Recombinant soluble protein X4 was purified from E. Coli using ion exchange chromatography, and the preparation was injected into chicken for rising specific polyclonal antibodies. The expression of protein X4 in SARS-CoV-infected Vero E6 cells and lung tissues from patients with SARS was performed using immunofluorescence assay and immunohistochemistry technique. The preliminary function of protein X4 was evaluated by treatment with and over-expression of protein X4 in cell lines. Western blot was employed to evaluate the expression of protein X4 in SARS-CoV particles. Results We expressed and purified soluble recombinant protein X4 from E.coli, and generated specific antibodies against protein X4. Western blot proved that the protein X4 was not assembled in the SARS-CoV particles. Indirect immunofluorescence assays revealed that the expression of protein X4 was detected at 8 hours after infection in SARS-CoV-infected Vero E6 cells. It was also detected in the lung tissues from patients with SARS. Treatment with and overexpression of protein X4 inhibited the growth of Balb/c 3T3 cells as determined by cell counting and MTT assays. Conclusion The results provide the evidence of protein X4 expression following SARS-CoV infection, and may facilitate further investigation of the immunopathological mechanism of SARS.

  11. Small diameter carbon nanopipettes

    Science.gov (United States)

    Singhal, Riju; Bhattacharyya, Sayan; Orynbayeva, Zulfiya; Vitol, Elina; Friedman, Gary; Gogotsi, Yury

    2010-01-01

    Nanoscale multifunctional carbon probes facilitate cellular studies due to their small size, which makes it possible to interrogate organelles within living cells in a minimally invasive fashion. However, connecting nanotubes to macroscopic devices and constructing an integrated system for the purpose of fluid and electrical signal transfer is challenging, as is often the case with nanoscale components. We describe a non-catalytic chemical vapor deposition based method for batch fabrication of integrated multifunctional carbon nanopipettes (CNPs) with tip diameters much smaller (10-30 nm) than previously reported (200 nm and above) and approaching those observed for multiwalled carbon nanotubes. This eliminates the need for complicated attachment/assembly of nanotubes into nanofluidic devices. Variable tip geometries and structures were obtained by controlled deposition of carbon inside and outside quartz pipettes. We have shown that the capillary length and gas flow rate have a marked effect on the carbon deposition. This gives us a flexible protocol, useful for growing carbon layers of different thicknesses at selective locations on a glass pipette to yield a large variety of cellular probes in bulk quantities. The CNPs possess an open channel for fluid transfer with the carbon deposited inside at 875 °C behaving like an amorphous semiconductor. Vacuum annealing of the CNP tips at temperatures up to 2000 °C yields graphitic carbon structures with an increase in conductivity of two orders of magnitude. Penetration of the integrated carbon nanoprobes into cells was shown to produce minimal Ca2+ signals, fast recovery of basal Ca2+ levels and no adverse activation of the cellular metabolism during interrogation times as long as 0.5-1 h.

  12. Small diameter carbon nanopipettes

    International Nuclear Information System (INIS)

    Nanoscale multifunctional carbon probes facilitate cellular studies due to their small size, which makes it possible to interrogate organelles within living cells in a minimally invasive fashion. However, connecting nanotubes to macroscopic devices and constructing an integrated system for the purpose of fluid and electrical signal transfer is challenging, as is often the case with nanoscale components. We describe a non-catalytic chemical vapor deposition based method for batch fabrication of integrated multifunctional carbon nanopipettes (CNPs) with tip diameters much smaller (10-30 nm) than previously reported (200 nm and above) and approaching those observed for multiwalled carbon nanotubes. This eliminates the need for complicated attachment/assembly of nanotubes into nanofluidic devices. Variable tip geometries and structures were obtained by controlled deposition of carbon inside and outside quartz pipettes. We have shown that the capillary length and gas flow rate have a marked effect on the carbon deposition. This gives us a flexible protocol, useful for growing carbon layers of different thicknesses at selective locations on a glass pipette to yield a large variety of cellular probes in bulk quantities. The CNPs possess an open channel for fluid transfer with the carbon deposited inside at 875 deg. C behaving like an amorphous semiconductor. Vacuum annealing of the CNP tips at temperatures up to 2000 deg. C yields graphitic carbon structures with an increase in conductivity of two orders of magnitude. Penetration of the integrated carbon nanoprobes into cells was shown to produce minimal Ca2+ signals, fast recovery of basal Ca2+ levels and no adverse activation of the cellular metabolism during interrogation times as long as 0.5-1 h.

  13. Small angle neutron scattering

    Directory of Open Access Journals (Sweden)

    Cousin Fabrice

    2015-01-01

    Full Text Available Small Angle Neutron Scattering (SANS is a technique that enables to probe the 3-D structure of materials on a typical size range lying from ∼ 1 nm up to ∼ a few 100 nm, the obtained information being statistically averaged on a sample whose volume is ∼ 1 cm3. This very rich technique enables to make a full structural characterization of a given object of nanometric dimensions (radius of gyration, shape, volume or mass, fractal dimension, specific area… through the determination of the form factor as well as the determination of the way objects are organized within in a continuous media, and therefore to describe interactions between them, through the determination of the structure factor. The specific properties of neutrons (possibility of tuning the scattering intensity by using the isotopic substitution, sensitivity to magnetism, negligible absorption, low energy of the incident neutrons make it particularly interesting in the fields of soft matter, biophysics, magnetic materials and metallurgy. In particular, the contrast variation methods allow to extract some informations that cannot be obtained by any other experimental techniques. This course is divided in two parts. The first one is devoted to the description of the principle of SANS: basics (formalism, coherent scattering/incoherent scattering, notion of elementary scatterer, form factor analysis (I(q→0, Guinier regime, intermediate regime, Porod regime, polydisperse system, structure factor analysis (2nd Virial coefficient, integral equations, characterization of aggregates, and contrast variation methods (how to create contrast in an homogeneous system, matching in ternary systems, extrapolation to zero concentration, Zero Averaged Contrast. It is illustrated by some representative examples. The second one describes the experimental aspects of SANS to guide user in its future experiments: description of SANS spectrometer, resolution of the spectrometer, optimization of

  14. Joint research using small tokamaks

    International Nuclear Information System (INIS)

    Small tokamaks have an important role in fusion research. More than 40 small tokamaks are operational. Research on small tokamaks has created a scientific basis for the scaling-up to larger tokamaks. Well-known scientific and engineering schools, which are now determining the main directions of fusion science and technology, have been established through research on small tokamaks. Combined efforts within a network of small and medium size tokamaks will further enhance the contribution of small tokamaks. A new concept of interactive coordinated research using small tokamaks in the mainstream fusion science areas, in testing of new diagnostics, materials and technologies as well as in education, training and broadening of the geography of fusion research in the scope of the IAEA Coordinated Research Project, is presented

  15. Regular Small-World Network

    Institute of Scientific and Technical Information of China (English)

    ZOU Zhi-Yun; MAO Bao-Hua; HAO Hai-Ming; GAO Jian-Zhi; YANG Jie-Jiao

    2009-01-01

    According to the deficiencies in Watts and Strogatz's small-world network model, we present a new regular model to establish the small-world network. Besides the property of the small-world, this model has other properties such as accuracy in controlling the average shortest path length L, and the average clustering coefficient C, also regular network topology as well as enhanced network robustness. This method improves the construction of the small-world network essentially, so that the regular small-world network closely resembles the actual network. We also present studies on the relationships among the quantities of a variety of edges, L and C in regular small-world network in detail. This research lays the foundation for the establishment of the regular small-world network and acts as a good guidance for further research of this model and its applications.

  16. 77 FR 30227 - Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small...

    Science.gov (United States)

    2012-05-22

    ... (SBIR) Program and Small Business Technology Transfer (STTR) Program AGENCY: U.S. Small Business... (SBIR) and Small Business Technology Transfer (STTR) Programs. The proposed rule would implement... technological constraints, participation is limited to 125 registrants for the Webinar. If demand...

  17. Small Bowel Hamartoma: A Huge Diverticulum of Small Bowel

    Directory of Open Access Journals (Sweden)

    Hamdi Ebdewi

    2013-01-01

    Full Text Available A-20-year old male, with no significant medical history, presented with clinical features mimicking a perforated acute appendicitis. Because of features of peritonitis, a laparotomy was performed which showed a segment of small bowel with multiple large diverticula and mesenteric cysts. A segmental small bowel resection was performed. The patient made an uneventful recovery from surgery. Histology revealed features of a small bowel hamartoma.

  18. Research using small tokamaks

    International Nuclear Information System (INIS)

    The technical reports in this document were presented at the IAEA Technical Committee Meeting ''Research on Small Tokamaks'', September 1990, in three sessions, viz., (1) Plasma Modes, Control, and Internal Phenomena, (2) Edge Phenomena, and (3) Advanced Configurations and New Facilities. In Section (1) experiments at controlling low mode number modes, feedback control using external coils, lower-hybrid current drive for the stabilization of sawtooth activity and continuous (1,1) mode, and unmodulated and fast modulated ECRH mode stabilization experiments were reported, as well as the relation to disruptions and transport of low m,n modes and magnetic island growth; static magnetic perturbations by helical windings causing mode locking and sawtooth suppression; island widths and frequency of the m=2 tearing mode; ultra-fast cooling due to pellet injection; and, finally, some papers on advanced diagnostics, i.e., lithium-beam activated charge-exchange spectroscopy, and detection through laser scattering of discrete Alfven waves. In Section (2), experimental edge physics results from a number of machines were presented (positive biasing on HYBTOK II enhancing the radial electric field and improving confinement; lower hybrid current drive on CASTOR improving global particle confinement, good current drive efficiency in HT-6B showing stabilization of sawteeth and Mirnov oscillations), as well as diagnostic developments (multi-chord time resolved soft and ultra-soft X-ray plasma radiation detection on MT-1; measurements on electron capture cross sections in multi-charged ion-atom collisions; development of a diagnostic neutral beam on Phaedrus-T). Theoretical papers discussed the influence of sheared flow and/or active feedback on edge microstability, large edge electric fields, and two-fluid modelling of non-ambipolar scrape-off layers. Section (3) contained (i) a proposal to construct a spherical tokamak ''Proto-Eta'', (ii) an analysis of ultra-low-q and runaway

  19. Small Wind Site Assessment Guidelines

    Energy Technology Data Exchange (ETDEWEB)

    Olsen, Tim [Advanced Energy Systems LLC, Eugene, OR (United States); Preus, Robert [National Renewable Energy Lab. (NREL), Golden, CO (United States)

    2015-09-01

    Site assessment for small wind energy systems is one of the key factors in the successful installation, operation, and performance of a small wind turbine. A proper site assessment is a difficult process that includes wind resource assessment and the evaluation of site characteristics. These guidelines address many of the relevant parts of a site assessment with an emphasis on wind resource assessment, using methods other than on-site data collection and creating a small wind site assessment report.

  20. Small Spacecraft Activities at JPL

    OpenAIRE

    Jones, Ross

    1991-01-01

    This paper presents a brief technical description of some of the small spacecraft concepts prepared by JPL for various sponsors. Some of JPL's work in microspacecraft is presented. The paper contains brief technical descriptions of the following four small spacecraft conceptual designs: 1) Lunar GAS, 2) Polar Mesoscale Explorer, 3) DARPA SHF and 4) Discovery. Since 1986, JPL has studied more than 10 small spacecraft including those to be presented here.

  1. Leadership in a small enterprise

    OpenAIRE

    Palmgren, Helena

    2010-01-01

    Leadership is often seen as the premier force behind the success and failure of enterprises and the well-being of the personnel. In spite of the vast amount of studies on leadership, leadership in small enterprises has seldom been in focus in leadership research. The increasing importance of small firms to the economic growth and competitiveness raises questions about the role and practice of leadership in small enterprises. This study aims to deepen our understanding of leadership as a socia...

  2. Sustainability for a Small Country

    OpenAIRE

    Edwards, Geoff W.

    1992-01-01

    The main objective in this paper is to promote thinking on what "sustainable development" or "ecologically sustainable development" means for a small trading country. After a brief acknowledgement of some of the diverse literature on sustainability, there is a consideration of some realities facing a small trading economy. The balance of the paper comprises a discussion of the scope for a small country to enhance sustainability. This is done under several headings, corresponding to different ...

  3. Investigation on a Small Oscillogram

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    A small oscillogram, one end of which was substituted by a bright point caused by the redox of an appropriate depolarizer and the other end of which was the redox of Hg or the redox of supporting electrolyte cation, was investigated in this paper. Experimental results of application of the small oscillogram to oscillographic determination of cefoperazone showed that the small oscillogram was more stable, sensitive, and less interference than classical oscillogram.

  4. Patient Safety Outcomes in Small Urban and Small Rural Hospitals

    Science.gov (United States)

    Vartak, Smruti; Ward, Marcia M.; Vaughn, Thomas E.

    2010-01-01

    Purpose: To assess patient safety outcomes in small urban and small rural hospitals and to examine the relationship of hospital and patient factors to patient safety outcomes. Methods: The Nationwide Inpatient Sample and American Hospital Association annual survey data were used for analyses. To increase comparability, the study sample was…

  5. Small white matter lesion detection in cerebral small vessel disease

    Science.gov (United States)

    Ghafoorian, Mohsen; Karssemeijer, Nico; van Uden, Inge; de Leeuw, Frank E.; Heskes, Tom; Marchiori, Elena; Platel, Bram

    2015-03-01

    Cerebral small vessel disease (SVD) is a common finding on magnetic resonance images of elderly people. White matter lesions (WML) are important markers for not only the small vessel disease, but also neuro-degenerative diseases including multiple sclerosis, Alzheimer's disease and vascular dementia. Volumetric measurements such as the "total lesion load", have been studied and related to these diseases. With respect to SVD we conjecture that small lesions are important, as they have been observed to grow over time and they form the majority of lesions in number. To study these small lesions they need to be annotated, which is a complex and time-consuming task. Existing (semi) automatic methods have been aimed at volumetric measurements and large lesions, and are not suitable for the detection of small lesions. In this research we established a supervised voxel classification CAD system, optimized and trained to exclusively detect small WMLs. To achieve this, several preprocessing steps were taken, which included a robust standardization of subject intensities to reduce inter-subject intensity variability as much as possible. A number of features that were found to be well identifying small lesions were calculated including multimodal intensities, tissue probabilities, several features for accurate location description, a number of second order derivative features as well as multi-scale annular filter for blobness detection. Only small lesions were used to learn the target concept via Adaboost using random forests as its basic classifiers. Finally the results were evaluated using Free-response receiver operating characteristic.

  6. How Small Is a Billionth?

    Science.gov (United States)

    Gough, John

    2007-01-01

    Children's natural curiosity about numbers, big and small can lead to exploring place-value ideas. But how can these abstract concepts be experienced more concretely? This article presents some practical approaches for conceptualising very small numbers using linear models, area models, volume models, and diagrams.

  7. Resourcing Change in Small Schools

    Science.gov (United States)

    Anderson, Michelle; White, Simone

    2011-01-01

    The theme of this article is the challenge that school leaders face in creating the conditions for learning in small schools. We draw on the concepts of "social capital" and "social entrepreneurship" to identify tensions and possibilities for school leaders in a case study of a small rural school as they seek to find resources for school-community…

  8. Standard Deviation for Small Samples

    Science.gov (United States)

    Joarder, Anwar H.; Latif, Raja M.

    2006-01-01

    Neater representations for variance are given for small sample sizes, especially for 3 and 4. With these representations, variance can be calculated without a calculator if sample sizes are small and observations are integers, and an upper bound for the standard deviation is immediate. Accessible proofs of lower and upper bounds are presented for…

  9. Small bowel obstruction- a surprise.

    Science.gov (United States)

    Mathew, Jeffrey Daniel; Cp, Ganesh Babu; M, Balachandar; M, Ramanathan

    2015-01-01

    Trans - omental hernia is very rare, accounting to 1-4% of all internal hernias which is an unusual cause of small bowel obstruction. Here we present a case report of a small bowel obstruction in a female due to trans - omental hernia presenting with central abdominal pain, distension and bilious vomiting. She had no previous history of trauma, surgery. Plain X-ray abdomen erect showed multiple air fluid levels with dilated small bowel loops. Emergency laparotomy revealed a segment of congested small bowel loop (ileum) through a defect in greater omentum. On table the herniated bowel loop was reduced and the defect in greater omentum was closed primarily. There was no necessity for bowel resection as it regained normal colour after reduction. Postoperative period was uneventful with complete resolution of symptoms. This case is presented for its rarity and its importance in clinical differential diagnosis of acute abdomen due to small bowel obstruction.

  10. 78 FR 11745 - Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small...

    Science.gov (United States)

    2013-02-20

    ... Small Business Technology Transfer (STTR) Program; Correction AGENCY: U.S. Small Business Administration... Technology Transfer (STTR) programs. DATES: Effective February 20, 2013 and is applicable beginning January..., or Edsel Brown, Assistant Director, Office of Technology, at (202) 205-7343, or...

  11. 77 FR 76215 - Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small...

    Science.gov (United States)

    2012-12-27

    ... (SBIR) Program and Small Business Technology Transfer (STTR) Program AGENCY: Small Business... Business Technology Transfer (STTR) programs. This rule implements provisions of the National Defense... Edsel Brown, Assistant Director, Office of Technology, at (202) 205-7343. You may also email...

  12. Board Effectiveness in Small Firms

    OpenAIRE

    Söderqvist, Anette; WÀgar, Karolina

    2010-01-01

    Purpose: This study investigates boards of directors in small firms and explores the link between board effectiveness and the composition, roles and working styles of the boards. Design/methodology/approach: The study analyses data from a telephone survey of boards in 45 small firms. The survey included both the CEO and the chairperson of the board. Findings: The study identifies three groups of small firms: ‘paperboards’, ‘professional boards’, and ‘management ...

  13. Small Sat Analysis Laboratory Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The NASA Low-Cost Small Spacecraft Program is focused on the technologies, subsystems, methodologies, and mission concepts for space missions which lower the...

  14. Quantum Small-world Networks

    CERN Document Server

    Wei, Zong-Wen; Han, Xiao-Pu

    2011-01-01

    Quantum networks are critical to quantum communication and distributed quantum computing. Here we propose a small-world model of large-scale quantum repeater networks, where "small-world" is a fundamental concept rooted in complex networks, which describe a broad range of real systems. The core of the model is to relate the hierarchical fashion of measurements to coarse-graining process, when quantum repeater protocols are implemented. We demonstrate that quantum repeater networks with fractal structure can be enlarged with certain length scale in geographic space, while preserving topology by performing renormalization. Actually, renormalization here serves as an organizing principle determining the distribution of long-range entangled links over quantum networks, which gives rise to fractal to small-world transition. Furthermore, by iterative implementation of renormalization on the former coarse-grained network, we eventually obtain an onion-like, hierarchical quantum small-world network, where the distanc...

  15. Small satellites and their regulation

    CERN Document Server

    Jakhu, Ram S

    2014-01-01

    Since the launch of UoSat-1 of the University of Surrey (United Kingdom) in 1981, small satellites proved regularly to be useful, beneficial, and cost-effective tools. Typical tasks cover education and workforce development, technology demonstration, verification and validation, scientific and engineering research as well as commercial applications. Today the launch masses range over almost three orders of magnitude starting at less than a kilogram up to a few hundred kilograms, with budgets of less than US$ 100.00 and up to millions within very short timeframes of sometimes less than two years. Therefore each category of small satellites provides specific challenges in design, development and operations. Small satellites offer great potentials to gain responsive, low-cost access to space within a short timeframe for institutions, companies, regions and countries beyond the traditional big players in the space arena. For these reasons (particularly the low cost of construction, launch and operation), small (m...

  16. Public Relations for Small Schools.

    Science.gov (United States)

    Seifert, Edward H.; Lott, Chester N.

    1981-01-01

    Discusses economically feasible and sensible methods of school-community relations for implementation in small schools; a multifaceted communication approach should be implemented which includes news releases, newsletters, advisory committees, and internal communication. (Author/LC)

  17. Small Probe Reentry System Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Global Aerospace Corporation (GAC), and its research partner, Cal Poly San Luis Obispo (CPSLO), will develop an integrated Small Probe Reentry System (SPRS) for low...

  18. Development project of small accelerator

    CERN Document Server

    Yamada, S

    2002-01-01

    The object of this project is demonstration of a small proton and heavy ion synchrotron and a small hard X-ray photon radiation source by using new technology and application of them to therapy, diagnosis, material science and life science. In this paper, a part of small proton and heavy ion synchrotron is discussed. Nine organizations joined in this project. There are four development themes such as optimization of laser-ion 100 TW class source target, beam storage and cooling device, small synchrotron ring and FFAG accelerator. Outline and contents of development of them are explained. This project is planning to generate a few MeV/u carbon ions in fully ionized states by impact of laser with about 100 TW output. 3 T maximum bending magnetic field using normal conduction AC magnet will be actualized for synchrotron with 200 MeV proton beam. (S.Y.)

  19. Small Sat Analysis Laboratory Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Develop Small Satellite Analysis Laboratory (SatLab): A simulation-of-simulations framework to integrate component and engineering simulations into a single larger...

  20. JPL Small Body Database Browser

    Data.gov (United States)

    National Aeronautics and Space Administration — The JPL Small-Body Database Browser provides data for all known asteroids and many comets. Newly discovered objects and their orbits are added on a daily basis....

  1. Small for gestational age (SGA)

    Science.gov (United States)

    ... is called intrauterine growth restriction. The most common definition of small for gestational age (SGA) is a ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  2. Small Bowel Review - Part I

    OpenAIRE

    Thomson, ABR; Wild, G.

    1997-01-01

    Significant advances have been made in the study of the small bowel. Part I of this two-part review of the small bowel examines carbohydrates, including brush border membrane hydrolysis and sugar transport; amino acids, dipeptides, proteins and food allergy, with a focus on glutamine, peptides and macromolecules, and nucleosides, nucleotides and polyamines; salt and water absorption, and diarrhea, including antidiarrheal therapy and oral rehydration treatment; lipids (digestion and absorption...

  3. Small windpower systems are beautiful

    Energy Technology Data Exchange (ETDEWEB)

    Conway, A.

    1988-11-01

    Today's small wind turbine generators perform well and reliably, thanks to brushless alternators, composite blades and protection against high winds. Wind turbines of such dimensions would often be employed for battery chargers. Bigger, geared machines, with rotors of up to 17 m diameter, driving synchronous or induction generators, would be coupled with diesel sets for supplying small communities. Battery chargers, island and hybrid systems and possible sites are discussed.

  4. World Small Hydropower Development Report

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Heng; Esser, Lara (ICSGP (China)); Masera, Diego (UNIDO, Vienna (Austria))

    2013-07-01

    Currently, small hydropower plants with a capacity of 10 MW, exist in 148 countries or territories worldwide. Four other countries have been identified with resource potential. This report aims to identify the development status and resource potential of small hydro in various countries, territories and regions throughout the world. Working with experts at the ground level to compile and share existing information, experiences and challenges, one comprehensive report was created. Decision-makers, stakeholders and potential investors clearly need this comprehensive information to more effectively promote small hydropower as a renewable and rural energy source for sustainable development and to overcome the existing development barriers. The findings of this report show that small hydropower potential globally is approximated at almost 173 GW. The figure is arrived by totaling data from a wide range of sources with potential compromise of data integrity to varying degrees. For example, research data on economically feasible potential were more readily available in developed countries than those in the least developed or developing countries. More than half of the world's known hydropower potential is located in Asia, around one third can be found in Europe and the Americas. It is possible in the future that more small hydropower potential might be identified both on the African and American continents. The installed small hydropower capacity (up to 10 MW) is estimated to be 75 GW in 2011/2012. The report provides detailed data for each country/region, including recommendations on the national, regional and international level.

  5. Small

    Energy Technology Data Exchange (ETDEWEB)

    Montoya, Joseph

    2013-07-18

    Representing the Center on Nanostructuring for Efficient Energy Conversion (CNEEC), this document is one of the entries in the Ten Hundred and One Word Challenge. As part of the challenge, the 46 Energy Frontier Research Centers were invited to represent their science in images, cartoons, photos, words and original paintings, but any descriptions or words could only use the 1000 most commonly used words in the English language, with the addition of one word important to each of the EFRCs and the mission of DOE energy. The mission of CNEEC is to understand how nanostructuring can enhance efficiency for energy conversion and solve fundamental cross-cutting problems in advanced energy conversion and storage systems.

  6. Small bowel faeces sign in patients without small bowel obstruction

    Energy Technology Data Exchange (ETDEWEB)

    Jacobs, S.L. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States)]. E-mail: stacylynnjacobs@yahoo.com; Rozenblit, A. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States); Ricci, Z. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States); Roberts, J. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States); Milikow, D. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States); Chernyak, V. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States); Wolf, E. [Department of Radiology, Montefiore Medical Center, Bronx, NY (United States)

    2007-04-15

    Aim: To evaluate frequency and clinical relevance of the 'small bowel faeces' sign (SBFS) on computed tomography (CT) in patients with and without small bowel obstruction (SBO) presenting with acute abdominal or acute abdominal and flank pain. Methods: Abdominal CTs of consecutive patients presenting to the emergency department with abdominal or flank pain over a 6 month period were retrospectively reviewed by six radiologists, independently, for the presence of the SBFS. Examinations with positive SBFS were further evaluated in consensus by three radiologists, blinded to the final diagnosis. The small bowel was graded as non-dilated (<2.5 cm) and mildly (2.5-2.9 cm), moderately (3-4 cm) or severely (>4 cm) dilated. The location of SBFS and presence of distal small bowel collapse indicative of SBO was recorded. Imaging findings were subsequently correlated with the final diagnosis via chart review and compared between patients with and without SBO. Results: Of 1642 CT examinations, a positive SBFS was found in 100 (6%) studies. Of 100 patients with a positive SBFS, 32 (32%) had documented SBO. The remaining 68 patients had other non-obstructive diagnoses. SBFS was located in proximal, central, distal and multisegmental bowel loops in one (3.1%), eight (25.0%), 21 (65.6%) and two (6.3%) patients with SBO, and in zero (0%), 10 (14.7%), 53 (77.9%) and five (7.4%) of patients without SBO (p < 0.273). The small bowel was non-dilated and mildly, moderately or severely dilated in one (3%), five (16%), 20 (62%) and six (19%) patients with SBO, and in 61(90%), seven (10%), zero (0%) and zero (0%) patients without SBO. Normal or mildly dilated small bowel was seen in all (100%) patients without SBO, but only in six (19%) of 32 patients with SBO (p < 0.0001). Moderate or severe small bowel dilatation was seen in 26 (81%) patients with SBO (p < 0.0001), but it was absent in patients without SBO. Distal small bowel collapse was found in 27 (84.4%) of 32 patients with

  7. Tumours in the Small Bowel

    Directory of Open Access Journals (Sweden)

    N. Kurniawan

    2014-01-01

    Full Text Available Small bowel tumours are rare and originate from a wide variety of benign and malignant entities. Adenocarcinomas are the most frequent primary malignant small bowel tumours. Submucosal tumours like gastrointestinal stromal tumours (GIST or neuroendocrine tumours (NET may show a central umbilication, pathologic vessels, bridging folds or an ulceration of the overlying mucosa. These signs help to differentiate them from harmless bulges caused by impression from outside, e.g. from other intestinal loops. Sarcomas of the small bowel are rare neoplasias with mesenchymal origin, sometimes presenting as protruding masses. Benign tumours like lipoma, fibrolipoma, fibroma, myoma, and heterotopias typically present as submucosal masses. They cannot be differentiated endoscopically from those with malignant potential as GIST or NET. Neuroendocrine carcinomas may present with diffuse infiltration, which may resemble other malignant tumours. The endoscopic appearance of small bowel lymphomas has a great variation from mass lesions to diffuse infiltrative changes. Melanoma metastases are the most frequent metastases to the small bowel. They may be hard to distinguish from other tumours when originating from an amelanotic melanoma.

  8. Small satellites for tropical applications

    Science.gov (United States)

    Montpetit, Marie-Jose; Bonn, Ferdinand

    1993-11-01

    A number of mission studies were performed to assess the suitability of small satellite systems for tropical data acquisition. These studies took into account the specifics of the tropical user communities and were focused on remote sensing and resource management issues. The requirements and potential solutions for four application areas are discussed. For monitoring of forest and agricultural vegetation, a small synthetic aperture radar is considered with P, C, or X band imaging, possibly supplemented by a high resolution multispectral imager. The radar would have the capability to monitor below cloud cover which is often found in tropical regions. Optical, microwave, or spectrographic imaging would also be useful in small satellites for disaster monitoring (notably of floods), land management, and air pollution monitoring. A small satellite with data storage and forwarding capability is also envisioned to collect data from dependable, low-power, and low-cost ground sensors via a simple ultrahigh frequency uplink and download the data on a very high frequency downlink. All the small satellites would be launched in low inclination orbits to ensure a number of consecutive passes over the targeted tropical area.

  9. Small-ductprimarysclerosingcholangitis withhepatocellularcarcinomarequiringliver transplantation

    Institute of Scientific and Technical Information of China (English)

    Sharif Ali; Veena Shah

    2010-01-01

    BACKGROUND: Primary sclerosing cholangitis (PSC) is a chronic progressive cholestatic liver disease, which usually affects young adults and is diagnosed by cholangiography. On a few occasions, the disease either starts in or exclusively involves the small intrahepatic bile ducts, referred to as small-duct PSC. METHODS: A 31-year-old man presented with severe hematemesis secondary to liver cirrhosis. Over a course of 8 years, his liver decompensated and required an orthotopic liver transplantation. In this report we discuss his disease presentation, course of management, and the post-transplantation course of manage-ment, and review the morphologic diagnosis, and differential diagnosis of the disease with large-duct type and other diseases that involve small intrahepatic bile ducts. RESULTS:The patient's explanted liver showed changes of PSC affecting only the small- and medium-sized bile ducts in addition to three incidental nodules of hepatocellular carcinoma. CONCLUSIONS: Small-duct PSC has a substantially better prognosis than the large-duct type, with less chance of developing cirrhosis and an equal risk for developing hepato-cellular carcinoma, but no increased risk for developing cholangiocarcinoma. Treatment seems to help relieve the symptoms but not necessarily improve survival. Liver transplantation remains the ultimate cure.

  10. Industry Research and Recommendations for Small Buildings and Small Portfolios

    Energy Technology Data Exchange (ETDEWEB)

    Langner, Rois [National Renewable Energy Lab. (NREL), Golden, CO (United States); Hendron, Bob [National Renewable Energy Lab. (NREL), Golden, CO (United States); Pless, Shanti [National Renewable Energy Lab. (NREL), Golden, CO (United States); Huppert, Mark [National Trust for Historic Preservation, Washington, DC (United States); Cochrane, Ric [National Trust for Historic Preservation, Washington, DC (United States)

    2013-12-01

    Small buildings have been left behind in the energy efficiency marketplace because financial and technical resources have flowed to larger commercial buildings. DOE's Building Technologies Office works with the commercial building industry to accelerate the uptake of energy efficiency technologies and techniques in existing and new commercial buildings (DOE 2013). BTO recognizes the SBSP sector'spotential for significant energy savings and the need for investments in resources that are tailored to this sector's unique needs. The industry research and recommendations described in this report identify potential approaches and strategic priorities that BTO could explore over the next 3-5 years that will support the implementation of high-potential energy efficiency opportunities for thisimportant sector. DOE is uniquely positioned to provide national leadership, objective information, and innovative tools, technologies, and services to support cost-effective energy savings in the fragmented and complex SBSP sector. Properly deployed, the DOE effort could enhance and complement current energy efficiency approaches. Small portfolios are loosely and qualitatively defined asportfolios of buildings that include only a small number of small buildings. This distinction is important because the report targets portfolio owners and managers who generally do not have staff and other resources to track energy use and pursue energy efficiency solutions.

  11. Marketing the Uniqueness of Small Towns. Small Town Strategy.

    Science.gov (United States)

    Hogg, David H.; Dunn, Douglas

    A small town can strengthen its local economy as a result of business people and concerned citizens collectively identifying that community's uniqueness and then capitalizing on it via advertising, personal selling, sales promotion, or publicity. This publication relates the science of marketing to communities. Seven simple techniques are provided…

  12. Small Business Social Responsibility Communication

    DEFF Research Database (Denmark)

    Morsing, Mette; Spence, Laura J.

    2015-01-01

    ) are confronting owner-managers’ ethos. We explain theoretically how small business managers respond to the challenge when they are required to formalize and display for external surveillance that which would otherwise be informal and part of the non-public or private sphere.......Purpose: Corporate social responsibility communication by small and medium sized enterprises is theorized to form the concept of Small Business Social Responsibility (SBSR) Communication. Design/methodology/approach: This is a conceptual paper that draws on Foucault’s theory of governmentality...... to develop a theoretical explanation for SBSR communication. Findings: Our analysis conceptualizes the ‘governmentality dilemma’ as SBSR managers face two simultaneous and potentially counterproductive expectations: responding to externally prescribed expectations, norms and standards such as branding, codes...

  13. Studies in small field inflation

    International Nuclear Information System (INIS)

    We explore some issues in slow roll inflation in situations where field excursions are small compared to Mp. We argue that for small field inflation, minimizing fine tuning requires low energy supersymmetry and a tightly constrained structure. Hybrid inflation is almost an inevitable outcome. The resulting theory can be described in terms of a supersymmetric low energy effective action and inflation completely characterized in terms of a small number of parameters. Demanding slow roll inflation significantly constrains these parameters. In this context, the generic level of fine tuning can be described as a function of the number of light fields, there is an upper bound on the scale of inflation, and an (almost) universal prediction for the spectral index. Models of this type need not suffer from a cosmological moduli problem

  14. Small Wind Turbine Technology Assessment

    International Nuclear Information System (INIS)

    The result of the study carried out under the scope of the ATYCA project Test Plant of Wind Systems for Isolated Applications, about the state of art of the small wind turbine technology (wind turbines with swept area smaller than 40 m2) is presented. The study analyzes the collected information on 60 models of wind turbines from 23 manufacturers in the worldwide market. Data from Chinese manufacturers, that have a large participation in the total number of small wind turbines in operation, are not included, due to the unavailability of the technical information. (Author) 15 refs

  15. Appropriate technology for small turbines

    Energy Technology Data Exchange (ETDEWEB)

    Strohmer, F.; Walch, E.

    1981-11-01

    The investment costs of small-scale hydro plants are relatively high; of these the electro-mechanical equipment is generally a high proportion. One way of reducing these costs is to use information and experience gained in the manufacture of equipment for large plants, avoiding expensive testing and assessment. To exploit this experience, a standard program has been developed which can be applied quickly and easily for the design of small turbines. In this way the best choice of turbines and configurations can be determined rapidly for any site.

  16. Particles in small volume injections.

    Science.gov (United States)

    Taylor, S A; Spence, J

    1983-12-01

    The level of particulate contamination in small volume injections has been examined using the light blockage (HIAC) and electrical sensing zone (Coulter counter) techniques, the HIAC system being found to be the more suitable. Particle counts on the same batch of injection showed a large and variable difference between the HIAC and the Coulter counter results, especially below 5 micron. None of the injections examined complied with the British Pharmacopoeia limits for particulates in large volume parenterals, suggesting the unsuitability of the limits for small volume parenterals. PMID:6141237

  17. Small Business Innovations (Crystal Components)

    Science.gov (United States)

    1991-01-01

    Scientific Materials Corporation, Bozeman, MT developed the SciMax line of improved Nd:Yag crystals under an Small Business Innovation Research (SBIR) contract with Langley Research Center. They reduced the amount of water trapped in the crystals during growth to improve the optical quality and efficiency. Applications of the crystals include fiber optics, telecommunications, welding, drilling, eye surgery and medical instrumentation.

  18. Small Signal Loudspeaker Impedance Emulator

    DEFF Research Database (Denmark)

    Iversen, Niels Elkjær; Knott, Arnold

    2014-01-01

    from driver to driver. Therefore, a loudspeaker emulator capable of adjusting its impedance to that of a given driver is desired for measurement purposes. This paper proposes a loudspeaker emulator circuit for small signals. Simulations and experimental results are compared and show that it is possible...

  19. Exact completions and small sheaves

    CERN Document Server

    Shulman, Michael

    2012-01-01

    We prove a general theorem which includes most notions of "exact completion". The theorem is that "k-ary exact categories" are a reflective sub-2-category of "k-ary sites", for any regular cardinal k. A k-ary exact category is an exact category with disjoint and universal k-small coproducts, and a k-ary site is a site whose covering sieves are generated by k-small families and which satisfies a weak size condition. For different values of k, this includes the exact completions of a regular category or a category with (weak) finite limits; the pretopos completion of a coherent category; and the category of sheaves on a small site. For a large site with k the size of the universe, it gives a well-behaved "category of small sheaves". Along the way, we define a slightly generalized notion of "morphism of sites", and show that k-ary sites are equivalent to a type of "enhanced allegory".

  20. Microwave Levitation Of Small Objects

    Science.gov (United States)

    Watkins, John L.; Jackson, Henry W.

    1991-01-01

    Microwave radiation in resonant cavities used to levitate small objects, according to proposal. Feedback control and atmosphere not needed. Technique conceived for use in experiments on processing of materials in low gravitation of outer space, also used in normal Earth gravitation, albeit under some limitations.

  1. Small firm transformation through IS

    NARCIS (Netherlands)

    Levy, Margi; Powell, Philip

    2008-01-01

    Globally, Small and Medium-sized Enterprises (SMEs) are encouraged, particularly by governments, to embrace c-business. Fully adopting e-business involves substantial change in firms, both internally and externally. However, there is little understanding of the mechanisms by which such business tran

  2. Economics: An Emerging Small World?

    NARCIS (Netherlands)

    S. Goyal (Sanjeev); M.J. van der Leij (Marco); J.L. Moraga-Gonzalez (José Luis)

    2004-01-01

    textabstractThis paper examines the small world hypothesis. The first part of the paper presents empirical evidence on the evolution of a particular world: the world of journal publishing economists during the period 1970-2000. We find that in the 1970's the world of economics was a collection of is

  3. Small Turing universal signal machines

    Directory of Open Access Journals (Sweden)

    Jérôme Durand-Lose

    2009-06-01

    Full Text Available This article aims at providing signal machines as small as possible able to perform any computation (in the classical understanding. After presenting signal machines, it is shown how to get universal ones from Turing machines, cellular-automata and cyclic tag systems. Finally a halting universal signal machine with 13 meta-signals and 21 collision rules is presented.

  4. Small animal radiotherapy research platforms

    International Nuclear Information System (INIS)

    Advances in conformal radiation therapy and advancements in pre-clinical radiotherapy research have recently stimulated the development of precise micro-irradiators for small animals such as mice and rats. These devices are often kilovolt x-ray radiation sources combined with high-resolution CT imaging equipment for image guidance, as the latter allows precise and accurate beam positioning. This is similar to modern human radiotherapy practice. These devices are considered a major step forward compared to the current standard of animal experimentation in cancer radiobiology research. The availability of this novel equipment enables a wide variety of pre-clinical experiments on the synergy of radiation with other therapies, complex radiation schemes, sub-target boost studies, hypofractionated radiotherapy, contrast-enhanced radiotherapy and studies of relative biological effectiveness, to name just a few examples. In this review we discuss the required irradiation and imaging capabilities of small animal radiation research platforms. We describe the need for improved small animal radiotherapy research and highlight pioneering efforts, some of which led recently to commercially available prototypes. From this, it will be clear that much further development is still needed, on both the irradiation side and imaging side. We discuss at length the need for improved treatment planning tools for small animal platforms, and the current lack of a standard therein. Finally, we mention some recent experimental work using the early animal radiation research platforms, and the potential they offer for advancing radiobiology research. (topical review)

  5. Small animal radiotherapy research platforms

    Science.gov (United States)

    Verhaegen, Frank; Granton, Patrick; Tryggestad, Erik

    2011-06-01

    Advances in conformal radiation therapy and advancements in pre-clinical radiotherapy research have recently stimulated the development of precise micro-irradiators for small animals such as mice and rats. These devices are often kilovolt x-ray radiation sources combined with high-resolution CT imaging equipment for image guidance, as the latter allows precise and accurate beam positioning. This is similar to modern human radiotherapy practice. These devices are considered a major step forward compared to the current standard of animal experimentation in cancer radiobiology research. The availability of this novel equipment enables a wide variety of pre-clinical experiments on the synergy of radiation with other therapies, complex radiation schemes, sub-target boost studies, hypofractionated radiotherapy, contrast-enhanced radiotherapy and studies of relative biological effectiveness, to name just a few examples. In this review we discuss the required irradiation and imaging capabilities of small animal radiation research platforms. We describe the need for improved small animal radiotherapy research and highlight pioneering efforts, some of which led recently to commercially available prototypes. From this, it will be clear that much further development is still needed, on both the irradiation side and imaging side. We discuss at length the need for improved treatment planning tools for small animal platforms, and the current lack of a standard therein. Finally, we mention some recent experimental work using the early animal radiation research platforms, and the potential they offer for advancing radiobiology research.

  6. Small bowel transplantation: An overview

    NARCIS (Netherlands)

    R.W.F. de Bruin (Ron); E. Heineman (Erik); R.L. Marquet (Richard)

    1994-01-01

    textabstractSmall bowel transplantation (SBT) would, in theory, be the treatment of choice for patients suffering from the short bowel syndrome. Although SBT has been done with a considerable degree of success in some centers [36,145], it is by no means an established or widely applicable therapy fo

  7. Sonography of the small intestine

    Institute of Scientific and Technical Information of China (English)

    Kim Nylund; Svein (φ)degaard; Trygve Hausken; Geir Folvik; Gülen Arslan Lied; Ivan Viola; Helwig Hauser; Odd-Helge Gilja

    2009-01-01

    In the last two decades, there has been substantial development in the diagnostic possibilities for examining the small intestine. Compared with computerized tomography, magnetic resonance imaging, capsule endoscopy and double-balloon endoscopy, ultrasonography has the advantage of being cheap, portable, flexible and user- and patient-friendly, while at the same time providing the clinician with image data of high temporal and spatial resolution. The method has limitations with penetration in obesity and with intestinal air impairing image quality. The flexibility ultrasonography offers the examiner also implies that a systematic approach during scanning is needed. This paper reviews the basic scanning techniques and new modalities such as contrast-enhanced ultrasound, elastography, strain rate imaging, hydrosonography, allergosonography, endoscopic sonography and nutritional imaging, and the literature on disease-specific findings in the small intestine. Some of these methods have shown clinical benefit, while others are under research and development to establish their role in the diagnostic repertoire. However, along with improved overall image quality of new ultrasound scanners, these methods have enabled more anatomical and physiological changes in the small intestine to be observed. Accordingly, ultrasound of the small intestine is an attractive clinical tool to study patients with a range of diseases.

  8. Calculator. Owning a Small Business.

    Science.gov (United States)

    Parma City School District, OH.

    Seven activities are presented in this student workbook designed for an exploration of small business ownership and the use of the calculator in this career. Included are simulated situations in which students must use a calculator to compute property taxes; estimate payroll taxes and franchise taxes; compute pricing, approximate salaries,…

  9. Economics : An emerging small world

    NARCIS (Netherlands)

    Goyal, S; van der Leij, MJ; Moraga-Gonzalez, JL

    2006-01-01

    We study the evolution of social distance among economists over the period 1970-2000. While the number of economists has more than doubled, the distance between them, which was already small, has declined significantly. The key to understanding the short average distances is the observation that eco

  10. Small store presence in Japan

    NARCIS (Netherlands)

    M.A. Carree (Martin); J.C.A. Potjes; A.R. Thurik (Roy)

    1993-01-01

    textabstractThe determinants of the development of small store presence in Japan are investigated using a fixed effects multinomial logit market share model. Large stores tend to have higher market shares in shop-types with increasing shares in consumer expenditures, increasing inventory turnover, a

  11. Small rocket research and technology

    Science.gov (United States)

    Schneider, Steven; Biaglow, James

    1993-01-01

    Small chemical rockets are used on nearly all space missions. The small rocket program provides propulsion technology for civil and government space systems. Small rocket concepts are developed for systems which encompass reaction control for launch and orbit transfer systems, as well as on-board propulsion for large space systems and earth orbit and planetary spacecraft. Major roles for on-board propulsion include apogee kick, delta-V, de-orbit, drag makeup, final insertions, north-south stationkeeping, orbit change/trim, perigee kick, and reboost. The program encompasses efforts on earth-storable, space storable, and cryogenic propellants. The earth-storable propellants include nitrogen tetroxide (NTO) as an oxidizer with monomethylhydrazine (MMH) or anhydrous hydrazine (AH) as fuels. The space storable propellants include liquid oxygen (LOX) as an oxidizer with hydrazine or hydrocarbons such as liquid methane, ethane, and ethanol as fuels. Cryogenic propellants are LOX or gaseous oxygen (GOX) as oxidizers and liquid or gaseous hydrogen as fuels. Improved performance and lifetime for small chemical rockets are sought through the development of new predictive tools to understand the combustion and flow physics, the introduction of high temperature materials to eliminate fuel film cooling and its associated combustion inefficiency, and improved component designs to optimize performance. Improved predictive technology is sought through the comparison of both local and global predictions with experimental data. Results indicate that modeling of the injector and combustion process in small rockets needs improvement. High temperature materials require the development of fabrication processes, a durability data base in both laboratory and rocket environments, and basic engineering property data such as strength, creep, fatigue, and work hardening properties at both room and elevated temperature. Promising materials under development include iridium-coated rhenium and a

  12. Small Bodies, Big Discoveries: NASA's Small Bodies Education Program

    Science.gov (United States)

    Mayo, L.; Erickson, K. J.

    2014-12-01

    2014 is turning out to be a watershed year for celestial events involving the solar system's unsung heroes, small bodies. This includes the close flyby of comet C/2013 A1 / Siding Spring with Mars in October and the historic Rosetta mission with its Philae lander to comet 67P/Churyumov-Gerasimenko. Beyond 2014, the much anticipated 2015 Pluto flyby by New Horizons and the February Dawn Mission arrival at Ceres will take center stage. To deliver the excitement and wonder of our solar system's small bodies to worldwide audiences, NASA's JPL and GSFC education teams in partnership with NASA EDGE will reach out to the public through multiple venues including broadcast media, social media, science and math focused educational activities, observing challenges, interactive visualization tools like "Eyes on the Solar System" and more. This talk will highlight NASA's focused education effort to engage the public in small bodies mission science and the role these objects play in our understanding of the formation and evolution of the solar system.

  13. Small is beautiful: models of small neuronal networks

    Science.gov (United States)

    Lamb, Damon G; Calabrese, Ronald L

    2013-01-01

    Modeling has contributed a great deal to our understanding of how individual neurons and neuronal networks function. In this review, we focus on models of the small neuronal networks of invertebrates, especially rhythmically active CPG networks. Models have elucidated many aspects of these networks, from identifying key interacting membrane properties to pointing out gaps in our understanding, for example missing neurons. Even the complex CPGs of vertebrates, such as those that underlie respiration, have been reduced to small network models to great effect. Modeling of these networks spans from simplified models, which are amenable to mathematical analyses, to very complicated biophysical models. Some researchers have now adopted a population approach, where they generate and analyze many related models that differ in a few to several judiciously chosen free parameters; often these parameters show variability across animals and thus justify the approach. Models of small neuronal networks will continue to expand and refine our understanding of how neuronal networks in all animals program motor output, process sensory information and learn. PMID:22364687

  14. Small is beautiful: models of small neuronal networks.

    Science.gov (United States)

    Lamb, Damon G; Calabrese, Ronald L

    2012-08-01

    Modeling has contributed a great deal to our understanding of how individual neurons and neuronal networks function. In this review, we focus on models of the small neuronal networks of invertebrates, especially rhythmically active CPG networks. Models have elucidated many aspects of these networks, from identifying key interacting membrane properties to pointing out gaps in our understanding, for example missing neurons. Even the complex CPGs of vertebrates, such as those that underlie respiration, have been reduced to small network models to great effect. Modeling of these networks spans from simplified models, which are amenable to mathematical analyses, to very complicated biophysical models. Some researchers have now adopted a population approach, where they generate and analyze many related models that differ in a few to several judiciously chosen free parameters; often these parameters show variability across animals and thus justify the approach. Models of small neuronal networks will continue to expand and refine our understanding of how neuronal networks in all animals program motor output, process sensory information and learn.

  15. General Information about Small Cell Lung Cancer

    Science.gov (United States)

    ... Cancer Prevention Lung Cancer Screening Research Small Cell Lung Cancer Treatment (PDQ®)–Patient Version General Information About Small Cell Lung Cancer Go to Health Professional Version Key Points Small ...

  16. Stages of Small Cell Lung Cancer

    Science.gov (United States)

    ... Cancer Prevention Lung Cancer Screening Research Small Cell Lung Cancer Treatment (PDQ®)–Patient Version General Information About Small Cell Lung Cancer Go to Health Professional Version Key Points Small ...

  17. Treatment Option Overview (Small Cell Lung Cancer)

    Science.gov (United States)

    ... Cancer Prevention Lung Cancer Screening Research Small Cell Lung Cancer Treatment (PDQ®)–Patient Version General Information About Small Cell Lung Cancer Go to Health Professional Version Key Points Small ...

  18. Síndrome de Cotard asociado a Trastorno Depresivo Mayor con síntomas catatónicos. Informe de caso / Cotard Syndrome Associated to Major Depressive Disorder with Catatonic Symptoms. Case report / Síndrome de Cotard associada ao transtorno depressivo maior com sintomas catatônicos. Relato de caso

    Directory of Open Access Journals (Sweden)

    Daniel Mauricio Torrado-Arenas

    2015-07-01

    -Higuera SM, Zabala-Arias LM, Niño-García JA. Cotard’s syndrome associated to major depressive disorder with catatonic symptoms. Case report. MedUNAB 2016;18(1: 76-80]. Introdução: A catatonia é uma síndrome neuropsiquiátrica com posturas anormais, silêncio e estupor. A Colômbia tem uma prevalência de 11,4% de pacientes psiquiátricos. Objetivo: Discutir o caso clínico de uma mulher de 34 anos com uma história de transtorno depressivo maior que chega ao departamento de emergência com delírios niilistas e os sintomas catatônicos. Relato de caso: Foi relatado o caso de uma jovem adulta com transtorno depressivo maior e sintomas psicóticos que tinha sido hospitalizada nove meses antes, a quem deram alta com tratamento medicamentoso que ela não se lembrava. A paciente chegou ao pronto socorro do Hospital Universitário de Santander, apresentando três dias de um comportamento incomum, mutismo e negativismo. Exames laboratoriais e tomografia do crânio normal. O tratamento foi iniciado com uma benzodiacepina que a remeteu aos sintomas catatônicos. Posteriormente demonstrou anedonia, tristeza e delírios niilistas; considerou-se que seu estado correspondia a uma recorrência de episódio depressivo, começado nove meses antes, relacionado com a síndrome de Cotard. Gradualmente a paciente foi medicada com sertralina de 150,0 mg a 5,0 mg e olanzapina de 5.0 mg, obtendo a remissão dos sintomas afetivos e psicóticos. Discussão: A desordem afetiva é a causa mais comum de catatonia. Há relatos semelhantes, embora poucos onde coexistam os três sintomas; este é o primeiro caso relatado no Hospital Universitário de Santander, com prévio consentimento informado. Conclusões: É incomum para uma pessoa deprimida ter delírios de negação e sintomas catatônicos simultaneamente, de modo que este caso, por ser único, gera novidade para a literatura. No caso, os sintomas catatônicos dificultam a exploração de outras esferas mentais e podem ser considerados

  19. Propulsion Challenges for Small Spacecraft: 2005

    Institute of Scientific and Technical Information of China (English)

    Vadim Zakirov; LI Luming

    2006-01-01

    Small (<100 kg) spacecrafts are being developed in many countries but their propulsion systems still have many challenges. Although there is demand for small spacecraft propulsion, the number of missions at present is small due to several commercial and technical reasons. Poor performance of existing small spacecraft propulsion systems is one of the main reasons for the small number of missions. Several reasons are given for the poor performance of existing small spacecraft propulsion. Suggested improvements focus on small spacecraft and propulsion hardware mass optimization rather than on specific impulse enhancement. Propellantless propulsion systems are also recommended for small spacecraft interplanetary missions.

  20. Remotely sensed small reservoir monitoring

    Science.gov (United States)

    Eilander, Dirk; Annor, Frank; Iannini, Lorenzo; van de Giesen, Nick

    2013-04-01

    A new 'growing' maximum likelihood classification algorithm for small reservoir delineation has been developed and is tested with Radarsat-2 data for reservoirs in the semi-arid Upper East Region, Ghana. The delineation algorithm is able to find the land-water boundary from SAR imagery for different weather and environmental conditions. As such, the algorithm allows for remote sensed operational monitoring of small reservoirs. Multipurpose small reservoirs (1-100 ha) are important for many livelihoods in rural semi-arid West Africa. In order to manage and plan these reservoirs and to assess their hydrological impact at a river basin scale, it is important to monitor their water storage fluctuation. Several studies on remotely sensed reservoir mapping have recently been published, but no single method yields good results for all weather and environmental conditions. Detection of small reservoirs from optical satellite imagery using supervised maximum likelihood classification is a well proved method. The application of this method for the monitoring of small reservoirs is however limited because of its dependence on cloud-free day-acquisitions. Delineation from SAR images is promising, but because of difficulties with wind induced Bragg-scattering and low contrast between the water surface and the dried-out surroundings at the end of the dry season, only quasi manual methods have been applied successfully. A smart combination of optical satellite based detection combined with a delineation method for SAR imagery is proposed. From the optical satellite based small reservoir detection the reservoir window is determined in which the 'growing' maximum likelihood classification on SAR images is performed. A water-class seed and land-class seed are implemented and grown dependent on the likelihood of a pixel to belong to one class. The likelihood is calculated based on the probability distributions of the growing land and water populations. Combinations of single

  1. Small-for-sizesyndromeinlivingdonorliver transplantation

    Institute of Scientific and Technical Information of China (English)

    Shintaro Yagi; Shinji Uemoto

    2012-01-01

    When the graft volume is too small to satisfy the recipient's metabolic demand, the recipient may thus experience small-for-size syndrome (SFSS). Because the occurrence of SFSS is determined by not only the liver graft volume but also a combination of multiple negative factors, the deifnitions of small-for-size graft (SFSG) and SFSS are different in each institute and at each time. In the clinical setting, surgical inlfow modulation and maximizing the graft outlfow are keys to overcoming SFSS. Accordingly, relatively smaller-sized grafts can be used with surgical modiifcation and pharmacological manipulation targeting portal circulation and liver graft quality. Therefore, the focus of the SFSG issue is now shifting from how to obtain a larger graft from the living donor to how to manage the use of a smaller graft to save the recipient, considering donor safety to be a priority.

  2. Small satellite radiometric measurement system

    Energy Technology Data Exchange (ETDEWEB)

    Weber, P.G.

    1992-01-01

    A critical need for the US Global Change Research Program is to provide continuous, well-calibrated radiometric data for the earth`s radiation budget. This paper describes a new, compact, relatively light-weight, adaptable radiometer which will provide both spectrally integrated measurements and data in selected spectral bands. The radiometer design is suitable for use on small satellites, aircraft, or remotely piloted aircraft (RPAs). An example of the implementation of this radiometer on a small satellite is given. Significant benefits derive from simultaneous measurements of specific narrow (in wavelength) spectral features; such data may be obtained by combining LARI with a compact spectrometer on the same platform. Well-chosen satellite orbits allow one to use data from other satellites (e.g. DMSP) to enhance the data product, or to provide superior coverage of specific locations. 23 refs.

  3. Small black holes on cylinders

    International Nuclear Information System (INIS)

    We find the metric of small black holes on cylinders, i.e. neutral and static black holes with a small mass in d-dimensional Minkowski space times a circle. The metric is found using an ansatz for black holes on cylinders proposed in J. High Energy Phys. 05, 032 (2002). We use the new metric to compute corrections to the thermodynamics which is seen to deviate from that of the (d+1)-dimensional Schwarzschild black hole. Moreover, we compute the leading correction to the relative binding energy which is found to be non-zero. We discuss the consequences of these results for the general understanding of black holes and we connect the results to the phase structure of black holes and strings on cylinders

  4. Small Spacecraft for Planetary Science

    Science.gov (United States)

    Baker, John; Castillo-Rogez, Julie; Bousquet, Pierre-W.; Vane, Gregg; Komarek, Tomas; Klesh, Andrew

    2016-07-01

    As planetary science continues to explore new and remote regions of the Solar system with comprehensive and more sophisticated payloads, small spacecraft offer the possibility for focused and more affordable science investigations. These small spacecraft or micro spacecraft (sustain a broad range of planetary environments (i.e., radiations, temperatures, limited power generation) and offer long-range telecommunication performance on a par with science needs. Other capabilities needed for planetary missions, such as fine attitude control and determination, capable computer and data handling, and navigation are being met by technologies currently under development to be flown on CubeSats within the next five years. This paper will discuss how micro spacecraft offer an attractive alternative to accomplish specific science and technology goals and what relevant technologies are needed for these these types of spacecraft. Acknowledgements: Part of this work is being carried out at the Jet Propulsion Laboratory, California Institute of Technology under contract to NASA. Government sponsorship acknowledged.

  5. Going global - growing small businesses

    International Nuclear Information System (INIS)

    The Going Global Energy Steering Committee was established to help small and medium-sized Canadian enterprises to compete in the electrical power industry in the Asia-Pacific region primarily, but also in Eastern Europe and Latin America. The aim is to provide market intelligence, and help with forming consortia for financing. A small to medium-sized business can be defined as one with 50 to 500 employees. Big businesses no longer have the same competitive advantages that they once had, because automated systems can make short production runs just as cost-effective as long ones, and because computerization, automation and rising productivity mean that fewer workers are required than formerly

  6. Trust Propagation in Small Worlds

    DEFF Research Database (Denmark)

    Gray, Elizabeth; Seigneur, Jean-Marc; Chen, Yong;

    2003-01-01

    The possibility of a massive, networked infrastructure of diverse entities partaking in collaborative applications with each other increases more and more with the proliferation of mobile devices and the development of ad hoc networking technologies. In this context, traditional security measures...... do not scale well. We aim to develop trust-based security mechanisms using small world concepts to optimise formation and propagation of trust amongst entities in these vast networks. In this regard, we surmise that in a very large mobile ad hoc network, trust, risk, and recommendations can...... be propagated through relatively short paths connecting entities. Our work describes the design of trust-formation and risk-assessment systems, as well as that of an entity recognition scheme, within the context of the small world network topology....

  7. Unveiling small sphere's scattering behavior

    CERN Document Server

    Tzarouchis, Dimitrios C; Sihvola, Ari

    2016-01-01

    A classical way for exploring the scattering behavior of a small sphere is to approximate Mie coefficients with a Taylor series expansion. This ansatz delivered a plethora of insightful results, mostly for small spheres supporting electric localized plasmonic resonances. However, many scattering aspects are still uncharted, especially for the case of magnetic resonances. Here, an alternative system ansatz is proposed based on the Pad\\'e approximants for the Mie coefficients. The extracted results reveal new aspects, such as the existence of a self-regulating radiative damping mechanism for the first magnetic resonance. Hence, a systematic way of exploring the scattering behavior is introduced, sharpening our understanding about sphere's scattering behavior and its emergent functionalities.

  8. Parton distributions at small x

    International Nuclear Information System (INIS)

    We perform a next-to-leading order quantum chromodynamics (QCD) analysis of the recent data for deep-inelastic lepton-nucleon scattering and related processes, in which we pay particular attention to the forms of the parton distributions at very small x. We discuss in detail, and we incorporate in the analysis, the theoretical QCD results leading to the singular x-1/2 type of behaviour of the gluon and sea quark distributions, as well as the modifications due to shadowing effects. We find the QCD shadowing corrections are significant for x ''approx -3 even though the parton distributions are below their saturation limit. We give predictions for the structure functions F2 and FL accessible at HERA, and for W and Z productions up to linear hard core pinch devices (LHC) and superconducting supercollider (SSC) energies. We discuss the possibility of experiments at these colliders probing the parton distributions in the very small x region. (author)

  9. Deployable Reflectors for Small Satellites

    OpenAIRE

    Barrett, Rory; Taylor, Robert; Keller, Philip; Codell, Dana; Adams, Larry

    2007-01-01

    A key limitation for future Small Satellite communications and radar missions will be available antenna reflector aperture. Two types of reflectors are dominant for satellite RF systems today, rigid, single-piece reflectors and deployable mesh reflectors. Single-piece reflectors are limited to the aperture that fits inside a launch vehicle without packaging the reflective surface. Mesh reflectors have become the workhorse of the deployable reflector market, however these reflectors are expens...

  10. Metagenomic small molecule discovery methods

    OpenAIRE

    Charlop-Powers, Zachary; Milshteyn, Aleksandr; Brady, Sean F

    2014-01-01

    Metagenomic approaches to natural product discovery provide the means of harvesting bioactive small molecules synthesized by environmental bacteria without the requirement of first culturing these organisms. Advances in sequencing technologies and general metagenomic methods are beginning to provide the tools necessary to unlock the unexplored biosynthetic potential encoded by the genomes of uncultured environmental bacteria. Here, we highlight recent advances in sequence- and functional- bas...

  11. Small gauge vitrectomy: Recent update

    OpenAIRE

    Sumeet Khanduja; Ashish Kakkar; Saptrishi Majumdar; Rajpal Vohra; Satpal Garg

    2013-01-01

    Small gauge vitrectomy, also known as minimally invasive vitreous surgery (MIVS), is a classic example of progress in biomedical engineering. Disparity in conjunctival and scleral wound location and reduction in wound diameter are its core principles. Fluidic changes include increased pressure head loss with consequent reduction in infusional flow rate and use of higher aspiration vacuum at the cutter port. Increase An increase in port open/port closed time maintains an adequate rate of vitre...

  12. Small Business Innovations (Robotic Wrist)

    Science.gov (United States)

    1991-01-01

    Under a Langley Research Center Small Business Innovation Research (SBIR) contract, Ross-Hime Designs, Inc. Minneapolis, MN, developed the Omni-Wrist actuator, which has a 25-pound capacity, 180 degrees of pitch/yaw, and 360 degrees of roll. Company literature calls it "the first successful singularity-free high-precision (robotic) wrist." Applications include spray painting, sealing, ultrasonic testing, welding and a variety of nuclear industry, aerospace and military uses.

  13. Small Business Innovations (Fiber Optics)

    Science.gov (United States)

    1991-01-01

    Foster-Miller, Inc. Waltham, MA developed the In-Situ Fiber Optic Polymer Reaction Monitor which could lead to higher yields and lower costs in complex composite manufacturing. The monitor, developed under a Small Business Innovation Research (SBIR) contract with Langley Research Center, uses an infrared, fiber optic sensor to track the molecular vibrational characteristics of a composite part while it is being cured. It is the first analytical system capable of directly measuring the chemistry of advanced composite materials.

  14. Small Business Innovations (Integrated Database)

    Science.gov (United States)

    1992-01-01

    Because of the diversity of NASA's information systems, it was necessary to develop DAVID as a central database management system. Under a Small Business Innovation Research (SBIR) grant, Ken Wanderman and Associates, Inc. designed software tools enabling scientists to interface with DAVID and commercial database management systems, as well as artificial intelligence programs. The software has been installed at a number of data centers and is commercially available.

  15. Twisted Yangians of small rank

    Science.gov (United States)

    Guay, Nicolas; Regelskis, Vidas; Wendlandt, Curtis

    2016-04-01

    We study quantized enveloping algebras called twisted Yangians associated with the symmetric pairs of types CI, BDI, and DIII (in Cartan's classification) when the rank is small. We establish isomorphisms between these twisted Yangians and the well known Olshanskii's twisted Yangians of types AI and AII, and also with the Molev-Ragoucy reflection algebras associated with symmetric pairs of type AIII. We also construct isomorphisms with twisted Yangians in Drinfeld's original presentation.

  16. Small intestinal bacterial overgrowth syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan; Bures; Jiri; Cyrany; Darina; Kohoutova; Miroslav; Frstl; Stanislav; Rejchrt; Jaroslav; Kvetina; Viktor; Vorisek; Marcela; Kopacova

    2010-01-01

    Human intestinal microbiota create a complex polymi-crobial ecology. This is characterised by its high population density, wide diversity and complexity of interaction. Any dysbalance of this complex intestinal microbiome, both qualitative and quantitative, might have serious health consequence for a macro-organism, including small intestinal bacterial overgrowth syndrome (SIBO).SIBO is defined as an increase in the number and/or alteration in the type of bacteria in the upper gastro-intestinal tract. There...

  17. Design of small table saws

    OpenAIRE

    Stuchlík, Petr

    2016-01-01

    The main aim of this thesis is the engineering design of a small table circular saw according to the specified parameters. At first, the types of machines available on the market are named and analyzed in detail. Afterwards, the engineering design of the machine is created. The following part is concerned with the individual parts,, tilting of the saw blade, maximum cutting pull through linkage with motion screw and checking of deformation of he critical parts of the machine. The previously s...

  18. The small world of psychopathology

    OpenAIRE

    Denny Borsboom; Cramer, Angélique O. J.; Schmittmann, Verena D.; Sacha Epskamp; Waldorp, Lourens J.

    2011-01-01

    BACKGROUND: Mental disorders are highly comorbid: people having one disorder are likely to have another as well. We explain empirical comorbidity patterns based on a network model of psychiatric symptoms, derived from an analysis of symptom overlap in the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV). PRINCIPAL FINDINGS: We show that a) half of the symptoms in the DSM-IV network are connected, b) the architecture of these connections conforms to a small world structure, fe...

  19. Rhapsody on small processor platforms

    OpenAIRE

    Andersson, Per-Oskar

    2008-01-01

    Rhapsody is a Model-Driven Development (MDD) tool for embedded and real-time system design. The purpose of this thesis is to determine if Rhapsody can be used for software development on small processor platforms such as the Atmel AVR. Rhapsody is normally used on platforms running an operating system. Therefore certain adaptations are needed in order to use it on platforms without an operating system. These adaptations and their affect on the usability of the tool, advantages and disadvantag...

  20. Manual on small earth dams

    OpenAIRE

    Stephens, Tim

    2015-01-01

    "This publication fills a void of practical guidelines for the construction of small earth dams. It presents readers with sound, reliable and practical source material to improve dam siting and design capacity in rural areas, to introduce a beneficiary and gender sensitive approach and to enhance safety and competence in construction. A section also provides convenient guidance on costing, drafting tenders and awarding contracts. The manual is primarily aimed at technicians and others with kn...

  1. Evolution of small prokaryotic genomes

    OpenAIRE

    Martínez-Cano, David J.; Reyes-Prieto, Mariana; Martínez-Romero, Esperanza; Partida-Martínez, Laila P.; Latorre, Amparo; Moya, Andrés; Delaye, Luis

    2015-01-01

    As revealed by genome sequencing, the biology of prokaryotes with reduced genomes is strikingly diverse. These include free-living prokaryotes with ∼800 genes as well as endosymbiotic bacteria with as few as ∼140 genes. Comparative genomics is revealing the evolutionary mechanisms that led to these small genomes. In the case of free-living prokaryotes, natural selection directly favored genome reduction, while in the case of endosymbiotic prokaryotes neutral processes played a more prominent ...

  2. Evolution of small prokaryotic genomes

    OpenAIRE

    David José Martínez-Cano; Mariana eReyes-Prieto; Esperanza eMartinez-Romero; Laila Pamela Partida-Martinez; Amparo eLatorre; Andres eMoya; Luis eDelaye

    2015-01-01

    As revealed by genome sequencing, the biology of prokaryotes with reduced genomes is strikingly diverse. These include free-living prokaryotes with ~800 genes as well as endosymbiotic bacteria with as few as ~140 genes. Comparative genomics is revealing the evolutionary mechanisms that led to these small genomes. In the case of free-living prokaryotes, natural selection directly favored genome reduction, while in the case of endosymbiotic prokaryotes neutral processes played a more prominent ...

  3. Desmoplastic small round cell tumour

    Energy Technology Data Exchange (ETDEWEB)

    Tan, T.H.L. [North District Hospital, Fanling, Kowloon (Hong Kong). Radiology Department; Ong, K.L. [Prince of Wales Hospital, Shatin, Kowloon (Hong Kong). Accident and Emergency Department; Au, Y.M.C. [Princess Margarete Hospital, Kowloon, (Hong Kong). Department of Radiology

    1998-11-01

    The present report describes a rare case of primary desmoplastic small cell tumour of the recto-sigmoid colon with hepatic metastases and lymphadenopathy. There are no pathognomonic radiological features and often their features overlap with other diseases including lymphoma. Histology is necessary to confirm this diagnosis. Unfortunately despite aggressive therapy, the prognosis for this disease is poor. Copyright (1998) Blackwell Science Pty Ltd 8 refs., 1 fig.

  4. Implantable telemetry for small animals

    Science.gov (United States)

    1982-03-01

    A series of totally implantable telemetry devices for use in measuring deep body parameters in small animals were developed. Under a collaborative agreement with NASA, several of these systems; the continuous wave Doppler ultrasonic flowmeter, the multichannel telemetry system, and the inductively-powered dual channel cardiac pacer were evaluated in a series of ten mongrel dogs (15 to 20 kg.). These systems were used to measure ascending aortic and coronary blood flow, aortic pressure, and subcutaneous EKG.

  5. Chronic Hemodialysis in Small Children.

    Science.gov (United States)

    Novljan, Gregor; Rus, Rina R; Premru, Vladimir; Ponikvar, Rafael; Battelino, Nina

    2016-06-01

    When peritoneal dialysis is inapplicable, chronic hemodialysis (HD) becomes the only available treatment option in small children. Due to small patient size, central venous catheters (CVC) are mainly used for vascular access. Over the past 4 years, four children weighing less than 15 kg received chronic HD in our unit. A total of 848 dialysis sessions were performed. Altogether, 21 catheters were inserted. In all but one occasion, uncuffed catheters were used. Catheter revision was performed 15 times during the study period, either due to infection or catheter malfunction. The median number of catheter revisions and the median line survival was 3.0/patient-year and 53 days (range; 6-373 days), respectively. There were 14 episodes of catheter related infections requiring 11 CVC revisions (78.6%). The median rate of line infections was 2.8/patient-year. Chronic HD in small children is demanding and labor intensive. Issues pertain mainly to CVCs and limit its long-term use. PMID:27312919

  6. Superconductivity of small metal grains

    Institute of Scientific and Technical Information of China (English)

    ZHENG; Renrong; CHEN; Zhiqian; ZHU; Shunquan

    2005-01-01

    The formulas of the energy gap and superconducting critical temperature appropriate for systems with both odd and even number of electrons are derived; the bases of the derivations are BCS theory and energy level statistics. Numerical results qualitatively agree with the experimental phenomena. i.e., the superconductivity of small metallic grains will first enhance then decrease to zero when the grain are getting smaller and smaller. The calculations indicate that the above phenomena happen in the metallic grains belonging to Gaussian Orthogonal Ensemble (GOE) and Gaussian Unitary ensemble (GUE) with zero spin; The superconductivity of small metallic grains in Gaussian Symplectic Ensemble (GSE) will monotonically decrease to zero with the decreasing of the grain size. The analyses suggest that the superconductivity enhancements come from pairing and the balance of the strengths between spin-orbital coupling and external magnetic field. In order to take the latter into account, it is necessary to include the level statistics given by Random Matrix Theory (RMT) in describing small metallic grains.

  7. Small Break Air Ingress Experiment

    Energy Technology Data Exchange (ETDEWEB)

    Chang Oh; Eung Soo Kim

    2011-09-01

    The small break air-ingress experiment, described in this report, is designed to investigate air-ingress phenomena postulated to occur in pipes in a very high temperature gas-cooled reactor (VHTRs). During this experiment, air-ingress rates were measured for various flow and break conditions through small holes drilled into a pipe of the experimental apparatus. The holes were drilled at right angles to the pipe wall such that a direction vector drawn from the pipe centerline to the center of each hole was at right angles with respect to the pipe centerline. Thus the orientation of each hole was obtained by measuring the included angle between the direction vector of each hole with respect to a reference line anchored on the pipe centerline and pointing in the direction of the gravitational force. Using this reference system, the influence of several important parameters on the air ingress flow rate were measured including break orientation, break size, and flow velocity . The approach used to study the influence of these parameters on air ingress is based on measuring the changes in oxygen concentrations at various locations in the helium flow circulation system as a function of time using oxygen sensors (or detectors) to estimate the air-ingress rates through the holes. The test-section is constructed of a stainless steel pipe which had small holes drilled at the desired locations.

  8. Evolution of small prokaryotic genomes

    Directory of Open Access Journals (Sweden)

    David José Martínez-Cano

    2015-01-01

    Full Text Available As revealed by genome sequencing, the biology of prokaryotes with reduced genomes is strikingly diverse. These include free-living prokaryotes with ~800 genes as well as endosymbiotic bacteria with as few as ~140 genes. Comparative genomics is revealing the evolutionary mechanisms that led to these small genomes. In the case of free-living prokaryotes, natural selection directly favored genome reduction, while in the case of endosymbiotic prokaryotes neutral processes played a more prominent role. However, new experimental data suggest that selective processes may be at operation as well for endosymbiotic prokaryotes at least during the first stages of genome reduction. Endosymbiotic prokaryotes have evolved diverse strategies for living with reduced gene sets inside a host-defined medium. These include utilization of host-encoded functions (some of them coded by genes acquired by gene transfer from the endosymbiont and/or other bacteria; metabolic complementation between co-symbionts; and forming consortiums with other bacteria within the host. Recent genome sequencing projects of intracellular mutualistic bacteria showed that previously believed universal evolutionary trends like reduced G+C content and conservation of genome synteny are not always present in highly reduced genomes. Finally, the simplified molecular machinery of some of these organisms with small genomes may be used to aid in the design of artificial minimal cells. Here we review recent genomic discoveries of the biology of prokaryotes endowed with small gene sets and discuss the evolutionary mechanisms that have been proposed to explain their peculiar nature.

  9. 78 FR 48537 - Small Business Innovation Research and Small Business Technology Transfer Programs...

    Science.gov (United States)

    2013-08-08

    ... ADMINISTRATION Small Business Innovation Research and Small Business Technology Transfer Programs... Administration (SBA) is publishing the Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) program Commercialization Benchmark for the 11 participating agencies for public...

  10. 78 FR 59798 - Small Business Subcontracting: Correction

    Science.gov (United States)

    2013-09-30

    ... From the Federal Register Online via the Government Publishing Office SMALL BUSINESS ADMINISTRATION 13 CFR Part 125 RIN 3245-AG22 Small Business Subcontracting: Correction AGENCY: U.S. Small..., 2013 (78 FR 42391). The document amended SBA's regulations governing small business subcontracting...

  11. 78 FR 42391 - Small Business Subcontracting

    Science.gov (United States)

    2013-07-16

    ... ADMINISTRATION 13 CFR Parts 121 and 125 RIN 3245-AG22 Small Business Subcontracting AGENCY: U.S. Small Business Administration. ACTION: Final rule. SUMMARY: The U.S. Small Business Administration (SBA or Agency) is amending.... FOR FURTHER INFORMATION CONTACT: Dean Koppel, U.S. Small Business Administration, Office of...

  12. Small Group Communication in the 1980's.

    Science.gov (United States)

    Neer, Michael R., Ed.

    1981-01-01

    This special edition of "Communication" brings together the work of nine leading scholars of small group communication. The following topics are discussed: (1) small group communication research in the 1980s; (2) unanswered questions in research on communication in the small group; (3) emerging trends in small group research; (4) structure in…

  13. 76 FR 61626 - Small Business Subcontracting

    Science.gov (United States)

    2011-10-05

    ... ADMINISTRATION 13 CFR Parts 121 and 125 RIN 3245-AG22 Small Business Subcontracting AGENCY: U.S. Small Business Administration. ACTION: Proposed rule. SUMMARY: The U.S. Small Business Administration (SBA or Agency) is... submissions: Dean Koppel, U.S. Small Business Administration, Office of Government Contracting, 409...

  14. Japanese Small Type Coastal Whaling

    Directory of Open Access Journals (Sweden)

    Sue Fisher

    2016-07-01

    Full Text Available 2016 marks the 70th anniversary of the International Convention for the Regulation of Whaling (ICRW as well as the 30th anniversary of the International Whaling Commission’s (IWC moratorium on commercial whaling. It also marks three decades of effort by Japan to overturn this ban. Its strategy to circumvent the moratorium by issuing permits to kill protected whales for scientific research is famous—even the subject of a 2014 lawsuit at the International Court of Justice. Less well known is Japan’s strategy to overturn the ban by persuading the Commission to authorise a category of commercial whaling known as Small Type Coastal Whaling (STCW that is conducted on minke and other small whales in Japanese waters but has never been regulated, or even formally recognised, by the IWC. For three decades Japan has sought STCW catch limits for four communities which it claims are still suffering distress as a result of the moratorium. While the Commission has rejected each proposal, mainly citing concerns that the commercial nature and purpose of STCW violates the moratorium, Japan has persisted, exhibiting great flexibility in its approach. Its tactics changed significantly in 2014; it no longer denied (or defended the commerciality of the hunt, but argued that it is irrelevant since it sought only a small exemption to the moratorium which would remain intact for all other populations. This is a perspective on Japan’s evolving STCW strategy and the risk that lifting, or modifying, the moratorium would pose to the conservation of whales.

  15. GEF small grants programme - overview

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-12-01

    This paper describes the GEF small grants program which seeks to enhance the role of households and communities in conserving global biodiversity, mitigating global climate change, and protecting international waters. Grants up to $50k have been granted for projects in 33 countries, with plans for 12 other countries. The author describes the framework that the program works under, and the methodology followed in developing and planning projects. The approach to climate change concerns is to emphasize the development of non-carbon energy development activities to provide energy sources and economic development.

  16. Small Bowel Imaging: an Update.

    Science.gov (United States)

    Rimola, Jordi; Panés, Julián

    2016-07-01

    Bowel imaging had experienced relevant technical advances during the last decade. The developments in the field of cross-sectional imaging had a particular impact on the assessment of Crohn's disease. The purpose of this manuscript is to provide a review of the main progress of cross-sectional imaging in the assessment of Crohn's disease and other small bowel diseases with relevance in clinical practice and in research. Also, we outline the technical advances, trends, and potential contributions of new technological cross-sectional imaging improvements that may have potential impact and contribution in the near future. PMID:27315216

  17. Minimum Q Electrically Small Antennas

    DEFF Research Database (Denmark)

    Kim, O. S.

    2012-01-01

    Theoretically, the minimum radiation quality factor Q of an isolated resonance can be achieved in a spherical electrically small antenna by combining TM1m and TE1m spherical modes, provided that the stored energy in the antenna spherical volume is totally suppressed. Using closed-form expressions...... for the stored energies obtained through the vector spherical wave theory, it is shown that a magnetic-coated metal core reduces the internal stored energy of both TM1m and TE1m modes simultaneously, so that a self-resonant antenna with the Q approaching the fundamental minimum is created. Numerical results...

  18. Small Bowel Review: Part II

    Directory of Open Access Journals (Sweden)

    ABR Thomson

    1996-01-01

    Full Text Available Major scientific advances have been made over the past few years in the areas of small bowel physiology, pathology, microbiology and clinical sciences. Over 1000 papers have been reviewed and a selective number are considered here. Wherever possible, the clinical relevance of these advances have been identified. Topics discussed are enterocyte proliferation and growth factors; amino acids, peptides and allergies; motility; salt and water absorption and secretion – diarrhea; vitamins and minerals; early development and ageing of the intestine; and ethanol effects.

  19. Small helical flux compression amplifiers

    International Nuclear Information System (INIS)

    Small, explosively compressed, magnetic flux transducers with many closely spaced helical turns are investigated theoretically and experimentally. The analysis is limited to linear operation, but takes into account load influence, proximity effects, and switching delays. The latter are due to retarded breakdown in the wire insulation and to the finite decay time of the magnetic field in the wire. More than 150 experiments showed considerable data scatter. Shots which exhibited low clocking and high amplification were in good agreement with the theory. The main conclusion is that device performance is limited not only by flux loss, but by flux remaining in the generator after compression

  20. Small Bowel Review: Part I

    Directory of Open Access Journals (Sweden)

    ABR Thomson

    2000-01-01

    Full Text Available In the past year, there have been many advances in the area of small bowel physiology and pathology. More than 1500 papers were assessed in preparation for this review. Some were selected and reviewed, with a particular focus on presenting clinically useful information for the practising gastroenterologist. Relevant review articles have been highlighted, and important clinical learning points have been stressed. The topics are varied in scope, and wherever possible show a logical progression from basic physiology to pathophysiology to clinical disorders and management.

  1. Small angle scattering and polymers

    Energy Technology Data Exchange (ETDEWEB)

    Cotton, J.P. [Laboratoire Leon Brillouin (LLB) - Centre d`Etudes de Saclay, 91 - Gif-sur-Yvette (France)

    1996-12-31

    The determination of polymer structure is a problem of interest for both statistical physics and industrial applications. The average polymer structure is defined. Then, it is shown why small angle scattering, associated with isotopic substitution, is very well suited to the measurement of the chain conformation. The corresponding example is the old, but pedagogic, measurement of the chain form factor in the polymer melt. The powerful contrast variation method is illustrated by a recent determination of the concentration profile of a polymer interface. (author) 12 figs., 48 refs.

  2. Small intestinal tophus mimicking tumor

    Directory of Open Access Journals (Sweden)

    Pragya Katoch

    2014-03-01

    Full Text Available A 72 year old male with hypertension, diabetes mellitus type 2 and previous gouty arthritis presented with weight loss, nausea, and vomiting. Ultrasound and CT scanning of the abdomen revealed a circumscribed tumor mass of the jejunum, 3.7 cm in diameter. Microscopic examination of the resected jejunum revealed the tumor to be a gouty tophus. To the best of our knowledge, three cases of tophi in the large intestine have previously been reported but none in the small intestine.

  3. Fuzzy Small Submodule and Jacobson -Radical

    OpenAIRE

    Saifur Rahman; Helen K. Saikia

    2011-01-01

    Using the notion of fuzzy small submodules of a module, we introduce the concept of fuzzy coessential extension of a fuzzy submodule of a module. We attempt to investigate various properties of fuzzy small submodules of a module. A necessary and sufficient condition for fuzzy small submodules is established. We investigate the nature of fuzzy small submodules of a module under fuzzy direct sum. Fuzzy small submodules of a module are characterized in terms of fuzzy quotient modules. This chara...

  4. Railgun launch of small bodies

    Energy Technology Data Exchange (ETDEWEB)

    Drobyshevski, E.M.; Zhukov, B.G.; Sakharov, V.A. [Russian Academy of Sciences, St. Petersburg (Russian Federation). Ioffe Physico-Technical Inst.

    1995-01-01

    The small body launching using gas or plasma faces the fundamental problem caused by excess energy loss due to great wall surface/volume of the barrel ratio. That is why the efficiency of the plasma armature (PA) railgun acceleration is maximum for 8--10 mm-size bodies and drops as their size decreases. For the nuclear fusion applications, where {number_sign}1--2 mm-size pellets at 5--10 km/s velocity are desirable, one is forced to search for compromise between the body size (3--4 mm) and its velocity (3 km/s). Under these conditions, EM launchers did not demonstrate an advantage over the light-gas guns. When elaborating the {number_sign}1 mm railgun, the authors made use of the ideology of the body launching at constant acceleration close to the body strength or the electrode skin-layer explosion limits. That shortened the barrel length sufficiently. The system becomes highly compact thus permitting rapid test of new operation modes and different modifications of the design including the magnetic field augmentation. As a result of these refinements, the difficulties caused by the catastrophic supply of mass ablated from the electrodes were overcome and regimes of {number_sign}1 mm body non-sabot speed-up to 4.5 km/s were found. Potentialities of the small system created are far from being exhausted.

  5. Small gauge vitrectomy: Recent update

    Directory of Open Access Journals (Sweden)

    Sumeet Khanduja

    2013-01-01

    Full Text Available Small gauge vitrectomy, also known as minimally invasive vitreous surgery (MIVS, is a classic example of progress in biomedical engineering. Disparity in conjunctival and scleral wound location and reduction in wound diameter are its core principles. Fluidic changes include increased pressure head loss with consequent reduction in infusional flow rate and use of higher aspiration vacuum at the cutter port. Increase An increase in port open/port closed time maintains an adequate rate of vitreous removal. High Intensity Discharge (HID lamps maintain adequate illumination in spite of a decrease in the number of fiberoptic fibers. The advantages of MIVS are, a shorter surgical time, minimal conjunctival damage, and early postoperative recovery. Most complications are centered on wound stability and risk of postoperative hypotony, endophthalmitis, and port site retinal break formation. MIVS is suited in most cases, however, it can cause dehiscence of recent cataract wounds. Retraction of the infusion cannula in the suprachoroidal space may occur in eyes with scleral thinning. As a lot has been published and discussed about sutureless vitrectomy a review of this subject is necessary. A PubMed search was performed in December 2011 with terms small gauge vitrectomy, 23-gauge vitrectomy, 25-gauge vitrectomy, and 27 gauge vitrectomy, which were revised in August 2012. There were no restrictions on the date of publication but it was restricted to articles in English or other languages, if there abstracts were available in English.

  6. Small RNA in rice genome

    Institute of Scientific and Technical Information of China (English)

    王凯; 朱小蓬; 钟兰; 陈润生

    2002-01-01

    Rice has many characteristics of a model plant. The recent completion of the draft of the rice genome represents an important advance in our knowledge of plant biology and also has an important contribution to the understanding of general genomic evolution. Besides the rice genome finishing map, the next urgent step for rice researchers is to annotate the genes and noncoding functional sequences. The recent work shows that noncoding RNAs (ncRNAs) play significant roles in biological systems. We have explored all the known small RNAs (a kind of ncRNA) within rice genome and other six species sequences, including Arabidopsis, maize, yeast, worm, mouse and pig. As a result we find 160 out of 552 small RNAs (sRNAs) in database have homologs in 108 rice scaffolds, and almost all of them (99.41%) locate in intron regions of rice by gene predication. 19 sRNAs only appear in rice. More importantly, we find two special U14 sRNAs: one is located in a set of sRNA ZMU14SNR9(s) which only appears in three plants, 86% sequences of them can be compared as the same sequence in rice, Arabidopsis and maize; the other conserved sRNA XLHS7CU14 has a segment which appears in almost all these species from plants to animals. All these results indicate that sRNA do not have evident borderline between plants and animals.

  7. Management of Small Vessel Vasculitides.

    Science.gov (United States)

    Lopalco, Giuseppe; Rigante, Donato; Venerito, Vincenzo; Emmi, Giacomo; Anelli, Maria Grazia; Lapadula, Giovanni; Iannone, Florenzo; Cantarini, Luca

    2016-06-01

    Inflammation mediated by cells of the immune system and necrosis are the most striking features observed at the histologic level in patients with vasculitides, clinical entities classified according to pathologic findings involving different organs, to etiology, or to size of vessels involved. Small vessel vasculitides (SVV) are a peculiar group of systemic disorders electively involving small intraparenchymal arteries, arterioles, capillaries, or venules and leading to different levels of vascular obstruction, tissue ischemia and risk of infarction; they can be divided into anti-neutrophil cytoplasmic antibody-associated vasculitides and immune complex vasculitides. Despite the significant advances in understanding the whole disease process and pathophysiology of SVV, strong efforts are still needed to draft, share and spread guidelines in the therapeutic management of these protean disorders. After an accurate evaluation of different open or double-blind trials and cohort studies in this review, we analyze the actual medical tools suggested for treating granulomatosis with polyangiitis, microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis, Henoch-Schönlein purpura, cryoglobulinemic vasculitis, anti-glomerular basement membrane disease and hypocomplementemic urticarial vasculitis. PMID:27118389

  8. Small Spacecraft for Planetary Science

    Science.gov (United States)

    Baker, John; Castillo-Rogez, Julie; Bousquet, Pierre-W.; Vane, Gregg; Komarek, Tomas; Klesh, Andrew

    2016-07-01

    As planetary science continues to explore new and remote regions of the Solar system with comprehensive and more sophisticated payloads, small spacecraft offer the possibility for focused and more affordable science investigations. These small spacecraft or micro spacecraft (electronics, advanced manufacturing for lightweight structures, and innovative propulsion are making it possible to fly much more capable micro spacecraft for planetary exploration. While micro spacecraft, such as CubeSats, offer significant cost reductions with added capability from advancing technologies, the technical challenges for deep space missions are very different than for missions conducted in low Earth orbit. Micro spacecraft must be able to sustain a broad range of planetary environments (i.e., radiations, temperatures, limited power generation) and offer long-range telecommunication performance on a par with science needs. Other capabilities needed for planetary missions, such as fine attitude control and determination, capable computer and data handling, and navigation are being met by technologies currently under development to be flown on CubeSats within the next five years. This paper will discuss how micro spacecraft offer an attractive alternative to accomplish specific science and technology goals and what relevant technologies are needed for these these types of spacecraft. Acknowledgements: Part of this work is being carried out at the Jet Propulsion Laboratory, California Institute of Technology under contract to NASA. Government sponsorship acknowledged.

  9. Small Molecules Target Carcinogenic Proteins

    Science.gov (United States)

    Gradinaru, Claudiu

    2009-03-01

    An ingenious cellular mechanism of effecting protein localization is prenylation: the covalent attachment of a hydrophobic prenyl group to a protein that facilitates protein association with cell membranes. Fluorescence microscopy was used to investigate whether the oncogenic Stat3 protein can undergo artificial prenylation via high-affinity prenylated small-molecule binding agents and thus be rendered inactive by localization at the plasma membrane instead of nucleus. The measurements were performed on a home-built instrument capable of recording simultaneously several optical parameters (lifetime, polarization, color, etc) and with single-molecule sensitivity. A pH-invariant fluorescein derivative with double moiety was designed to bridge a prenyl group and a small peptide that binds Stat3 with high affinity. Confocal fluorescence images show effective localization of the ligand to the membrane of liposomes. Stat3 predominantly localizes at the membrane only in the presence of the prenylated ligand. Single-molecule FRET (fluorescence resonance energy transfer) between donor-labeled prenylated agents and acceptor-labeled, surface tethered Stat3 protein is used to determine the dynamic heterogeneity of the protein-ligand interaction and follow individual binding-unbinding events in real time. The data indicates that molecules can effect protein localization, validating a therapeutic design that influences protein activity via induced localization.

  10. Small crater populations on Vesta

    CERN Document Server

    Marchi, S; O'Brien, D P; Schenk, P; Mottola, S; De Sanctis, M C; Kring, D A; Williams, D A; Raymond, C A; Russell, C T

    2013-01-01

    The NASA Dawn mission has extensively examined the surface of asteroid Vesta, the second most massive body in the main belt. The high quality of the gathered data provides us with an unique opportunity to determine the surface and internal properties of one of the most important and intriguing main belt asteroids (MBAs). In this paper, we focus on the size frequency distributions (SFDs) of sub-kilometer impact craters observed at high spatial resolution on several selected young terrains on Vesta. These small crater populations offer an excellent opportunity to determine the nature of their asteroidal precursors (namely MBAs) at sizes that are not directly observable from ground-based telescopes (i.e., below ~100 m diameter). Moreover, unlike many other MBA surfaces observed by spacecraft thus far, the young terrains examined had crater spatial densities that were far from empirical saturation. Overall, we find that the cumulative power-law index (slope) of small crater SFDs on Vesta is fairly consistent with...

  11. Small Space Launch: Origins & Challenges

    Science.gov (United States)

    Freeman, T.; Delarosa, J.

    2010-09-01

    The United States Space Situational Awareness capability continues to be a key element in obtaining and maintaining the high ground in space. Space Situational Awareness satellites are critical enablers for integrated air, ground and sea operations, and play an essential role in fighting and winning conflicts. The United States leads the world space community in spacecraft payload systems from the component level into spacecraft, and in the development of constellations of spacecraft. In the area of launch systems that support Space Situational Awareness, despite the recent development of small launch vehicles, the United States launch capability is dominated by an old, unresponsive and relatively expensive set of launchers in the Expandable, Expendable Launch Vehicles (EELV) platforms; Delta IV and Atlas V. The United States directed Air Force Space Command to develop the capability for operationally responsive access to space and use of space to support national security, including the ability to provide critical space capabilities in the event of a failure of launch or on-orbit capabilities. On 1 Aug 06, Air Force Space Command activated the Space Development & Test Wing (SDTW) to perform development, test and evaluation of Air Force space systems and to execute advanced space deployment and demonstration projects to exploit new concepts and technologies, and rapidly migrate capabilities to the warfighter. The SDTW charged the Launch Test Squadron (LTS) with the mission to develop the capability of small space launch, supporting government research and development space launches and missile defense target missions, with operationally responsive spacelift for Low-Earth-Orbit Space Situational Awareness assets as a future mission. This new mission created new challenges for LTS. The LTS mission tenets of developing space launches and missile defense target vehicles were an evolution from the squadrons previous mission of providing sounding rockets under the Rocket

  12. Amyloidosis of the small intestine

    Energy Technology Data Exchange (ETDEWEB)

    Kala, Zdenek [Department of Surgery, Faculty Hospital Brno, Jihlavska 20, 62500 Brno (Czech Republic)]. E-mail: zkala@tiscali.cz; Valek, Vlastimil [Department of Radiology, Faculty Hospital Brno, Jihlavska 20, 62500 Brno (Czech Republic)]. E-mail: v.valek@fnbrno.cz; Kysela, Petr [Department of Surgery, Faculty Hospital Brno, Jihlavska 20, 62500 Brno (Czech Republic)]. E-mail: pkysel@email.cz

    2007-07-15

    Amyloidosis is a rare disease characterized by forming pathological protein deposits - amyloid - in many organs and tissues. This decreases their functionality. The aim of this small study was to determine, whether the radiological picture of the small intestine involvement in amyloidosis is in some sense specific as sometimes described in literature giving rise to high suspicion for the disease in symptomatic patients. Material and methods: The prospective study comprising seven patients hospitalized in surgical department is presented together with a survey on the disease, its appearance in radiological imaging. All patients underwent abdominal ultrasound (ATL 5000 HDI, 7-12 MHz linear probe, no contrast enhancement, supine position), abdominal CT (Somatom Plus, Siemens, single detector, conventional abdominal CT protocol) and enteroclysis (Micropaque suspension 300 ml, application rate of 75 ml/min, dilution with HP-7000 being 1:1 and HP-7000 solution 2000 ml, application rate of 120 ml/min.). Results: The amyloid deposits in the small intestine could be visualized in five of seven patients with the disease. Enteroclysis revealed a diffuse slowed down intestinal motility with an obstruction-like picture in all of our seven patients. The intestinal secretion was normal, plicae were getting polyp-like shape in five of them forming so called 'thumb printing' picture. CT showed thickening of the intestinal wall due to deposits with poor blood supply and contrast retention in five of seven patients. Ultrasound visualized thickened, hypoechoic nodular plicae and slowed down motility in these five patients. The most striking finding was the pathological deposits in the intestinal wall were highly hypo-vascular. However, this picture is very similar to that of ischemic enteritis. All seven patients had proven amyloid deposits from bioptic specimens. Conclusion: The diagnosis of amyloidosis must be supported by bioptic examination as it has no pathognomic

  13. Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: Confirmation of an entity

    NARCIS (Netherlands)

    A.M. Vandersteen; R.C. Hennekam

    2010-01-01

    We describe two brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotrophic hypogonadism, small genitalia, and small patellae. The older sib had generalized hypotonia without focal neurological abnor

  14. Immunization against Small Ruminant Lentiviruses

    Directory of Open Access Journals (Sweden)

    Beatriz Amorena

    2013-08-01

    Full Text Available Multisystemic disease caused by Small Ruminant Lentiviruses (SRLV in sheep and goats leads to production losses, to the detriment of animal health and welfare. This, together with the lack of treatments, has triggered interest in exploring different strategies of immunization to control the widely spread SRLV infection and, also, to provide a useful model for HIV vaccines. These strategies involve inactivated whole virus, subunit vaccines, DNA encoding viral proteins in the presence or absence of plasmids encoding immunological adjuvants and naturally or artificially attenuated viruses. In this review, we revisit, comprehensively, the immunization strategies against SRLV and analyze this double edged tool individually, as it may contribute to either controlling or enhancing virus replication and/or disease.

  15. Small FDIRC Designs and Performances

    CERN Document Server

    Dey, B; Va'vra, J

    2016-01-01

    In this article we explore the angular resolution limits attainable in small FDIRC designs taking advantage of the new highly pixelated detectors that are now available. Since the basic FDIRC design concept attains its particle separation performance mostly in the angular domain as measured by two-dimensional pixels, this paper relies primarily on a pixel-based analysis, with additional chromatic corrections using the time domain, requiring single photon timing resolution at a level of 100-200ps only. This approach differs from other modern DIRC design concepts such as TOP or TORCH detectors, whose separation performances rely more strongly on time-dependent analyses. We find excellent single photon resolution with a geometry where individual bars are coupled to a single plate, coupled to cylindrical lens focusing.

  16. Small Business Innovations (Mass Microbalance)

    Science.gov (United States)

    1991-01-01

    Femtometrics of Costa Mesa, CA, developed the Model 200-1 SAW Mass Microbalance under a NASA Small Business Innovation Research (SBIR) contract with Langley Research Center. The product is described as "the next generation of aerosol mass microbalance technology," because a new type of sensor, the Surface Acoustic Wave (SAW) piezoelectric crystal, offers mass resolution two orders of magnitude greater than the Quartz Crystal Microbalance cascade impactor (QCM) (used at Langley since 1979 for collection and measurement of aerosol particles in the upper atmosphere). The Model 200-1 SAW Mass Microbalance, which provides a 400-fold increase in mass sensitivity per unit area over the QCM, can be used for real-time particle monitoring in clean rooms, measuring chemical vapors in very low concentrations, measuring target chemicals in the stratosphere and in industry as a toxic vapor monitor.

  17. Small Tank Tetraphenylborate Catalyst Studies

    Energy Technology Data Exchange (ETDEWEB)

    Barnes, M.J.

    2001-06-04

    The Salt Disposition Systems Engineering Team identified Small Tank Tetraphenylborate Precipitation (STTP) as an alternative to replace the In-Tank Precipitation Facility at the Savannah River Site. The Department of Energy discontinued operation of the In-Tank Precipitation facility due to the potential for catalytic decomposition of sodium tetraphenylborate. The STTP applies the same process chemistry for removal of cesium from the radioactive wastes but at a controlled lower temperature and in a smaller facility that offers engineering features to mitigate potential for a catalytic reaction. However, additional understanding of the catalytic reaction, through further experimental investigation, is needed to better define the potential for a reaction to occur in the proposed facility.

  18. Aeration equipment for small depths

    Science.gov (United States)

    Sluše, Jan; Pochylý, František

    2015-05-01

    Deficit of air in water causes complications with cyanobacteria mainly in the summer months. Cyanobacteria is a bacteria that produces poison called cyanotoxin. When the concentration of cyanobacteria increases, the phenomena "algal bloom" appears, which is very toxic and may kill all the organisms. This article describes new equipment for aeration of water in dams, ponds and reservoirs with small depth. This equipment is mobile and it is able to work without any human factor because its control is provided by a GPS module. The main part of this equipment consists of a floating pump which pumps water from the surface. Another important part of this equipment is an aerator where water and air are blended. Final aeration process runs in the nozzles which provide movement of all this equipment and aeration of the water. Simulations of the flow are solved by multiphase flow with diffusion in open source program called OpenFOAM. Results will be verified by an experiment.

  19. Mycoplasmas: small but perfectly formed

    Directory of Open Access Journals (Sweden)

    Robin NICHOLAS

    2015-07-01

    Full Text Available Interest in mycoplasmas stems from their importance as serious animal and human pathogens, their frequent contamination of cell lines and, because of their small size, for their use as models of the minimal cell concept.They have traditionally been seen as highly host specific but this is being reviewed in view of recent detections of animal mycoplasmas in unlikely hosts including humans. Some highlights include:Mycoplasmas, containing as few as 450 genes, are the smallest free-living organisms on the planetThey were the first synthetically created life formsWhile the majority of mycoplasmas are harmless, the World Organisation for Animal Health (OIE have listed 4 mycoplasma diseases because of their serious socio-economic impacts10-15% of cell lines used for virus research are contaminated with mycoplasma Are they the real the causes of TSEs and other undiagnosed human conditions?

  20. Small Cell Network Topology Comparison

    Directory of Open Access Journals (Sweden)

    Jan Oppolzer

    2013-01-01

    Full Text Available One of the essential problems in a mobile network with small cells is that there is only a limited number of (PCIs available. Due to this fact, operators face the inevitable need for reusing (PCIs. In our contribution, we are dealing with a (PCI assignment to FAPs in three different topologies. The first model places FAPs randomly within the network while respecting overlapping defined. The second model places FAPs in a grid without other restrictions. The third model forms a grid as well, although buildings and roads are taken into account and (FAPs are always inside buildings. The proposed models are compared and a conclusion is made based on simulation results.

  1. Semitransparent peroral small bowel imaging

    Energy Technology Data Exchange (ETDEWEB)

    Emons, D.

    1981-10-01

    171 follow-through examinations of the small bowel performed in children and adolescents with a large contrast medium meal and the high voltage-low density barium technique (10 to 25 g BaSO/sub 4//100 ml, depending on age), are described. A ready made suspension, diluted with water, proved unsatisfactory. Coating properties and stability of the diluted, weak suspension were then greatly improved by hydroxyethylcellulose as a thickening agent and in addition by premedication of the patient with cimetidine. Pure cellulose solution instead of the last portion of barium prevented thickening in the ileum. The procedure has the well known advantages of a large contrast medium meal without the problem of overly dense superpositions.

  2. Disturbances in small bowel motility.

    LENUS (Irish Health Repository)

    Quigley, E M

    2012-02-03

    Recently, the small intestine has become the focus of investigation as a potential site of dysmotility in the irritable bowel syndrome (IBS). A number of motor abnormalities have been defined in some studies, and include \\'clustered\\' contractions, exaggerated post-prandial motor response and disturbances in intestinal transit. The significance of these findings remains unclear. The interpretation of available studies is complicated by differences in subject selection, the direct influence of certain symptoms, such as diarrhoea and constipation, and the interference of compounding factors, such as stress and psychopathology. Dysmotility could also reflect autonomic dysfunction, disturbed CNS control and the response to heightened visceral sensation or central perception. While motor abnormalities may not explain all symptoms in IBS, sensorimotor interactions may be important in symptom pathogenesis and deserve further study.

  3. Episodic tremor triggers small earthquakes

    Science.gov (United States)

    Balcerak, Ernie

    2011-08-01

    It has been suggested that episodic tremor and slip (ETS), the weak shaking not associated with measurable earthquakes, could trigger nearby earthquakes. However, this had not been confirmed until recently. Vidale et al. monitored seismicity in the 4-month period around a 16-day episode of episodic tremor and slip in March 2010 in the Cascadia region. They observed five small earthquakes within the subducting slab during the ETS episode. They found that the timing and locations of earthquakes near the tremor suggest that the tremor and earthquakes are related. Furthermore, they observed that the rate of earthquakes across the area was several times higher within 2 days of tremor activity than at other times, adding to evidence of a connection between tremor and earthquakes. (Geochemistry, Geophysics, Geosystems, doi:10.1029/2011GC003559, 2011)

  4. Evaluation of small reactor economics

    International Nuclear Information System (INIS)

    The EPRI small reactor design program requires a procedure to analyze the economic benefits of specific design improvements suggested by the participating contractors, and to evaluate the total impacts of a new plant design on nuclear power generation costs. To that purpose, an analysis procedure is now being developed by EPRI and its participating contractors. This procedure involves the use of two separate costing models: 1. A top-down total generation cost model that integrates, in a relatively simplified manner, capital operating and fuel expenses, to yield total unit costs on an annual as well as on a lifetime levelized basis. A bottoms-up model that enables the analysis of specific system changes on station capital costs. Using a detailed reference plant cost breakdown, proposed design improvements can be measured against the reference data for their economic benefits

  5. Small boiler uses waste coal

    Energy Technology Data Exchange (ETDEWEB)

    Virr, M.J. [Spinheat Ltd. (United States)

    2009-07-15

    Burning coal waste in small boilers at low emissions poses considerable problem. While larger boiler suppliers have successfully installed designs in the 40 to 80 MW range for some years, the author has been developing small automated fluid bed boiler plants for 25 years that can be applied in the range of 10,000 to 140,000 lbs/hr of steam. Development has centered on the use of an internally circulating fluid bed (CFB) boiler, which will burn waste fuels of most types. The boiler is based on the traditional D-shaped watertable boiler, with a new type of combustion chamber that enables a three-to-one turndown to be achieved. The boilers have all the advantages of low emissions of the large fluid boilers while offering a much lower height incorporated into the package boiler concept. Recent tests with a waste coal that had a high nitrogen content of 1.45% demonstrated a NOx emission below the federal limit of 0.6 lbs/mm Btu. Thus a NOx reduction on the order of 85% can be demonstrate by combustion modification alone. Further reductions can be made by using a selective non-catalytic reduction (SNCR) system and sulfur absorption of up to 90% retention is possible. The article describes the operation of a 30,000 lbs/hr boiler at the Fayette Thermal LLC plant. Spinheat has installed three ICFB boilers at a nursing home and a prison, which has been tested on poor-grade anthracite and bituminous coal. 2 figs.

  6. Small government or big government?

    Directory of Open Access Journals (Sweden)

    MATEO SPAHO

    2015-03-01

    Full Text Available Since the beginning of the twentieth century, economists and philosophers were polarizedon their positions beyond the role that the government should have in the economy. On one hand John Maynard Keynes represented, within the optics of market economy, a position where the state should intervene in the economy to maintain the aggregate demand and the employment in the country, without hesitation in creating budget deficits and public debt expansion. This approach happens especially in the moments when the domestic economy and global economic trends show a weak growth or a recession. This means a heavy interference inthe economy, with higher income but with high expenditure to GDP too. On the other side, Liberals and Neoliberalsled by Friedrich Hayek advocated a withdrawal of the government from economic activity not just in moments of economic growth but also during the crisis, believing that the market has self-regulating mechanisms within itself. The government, as a result will have a smaller dimension with lower income and also low expenditures compared to the GDP of the country. We took the South-Eastern Europe countries distinguishing those with a "Big Government" or countries with "Small Government". There are analyzed the economic performances during the global crisis (2007-2014. In which countries the public debt grew less? Which country managed to attract more investments and which were the countries that preserved the purchasing power of their consumers? We shall see if during the economic crisis in Eastern Europe the Great Government or the Liberal and "Small" one has been the most successful the model.

  7. Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.

    Science.gov (United States)

    Kanduc, Darja

    2010-01-01

    We searched the primary sequence of influenza A H5N1 polyprotein for hexamer amino acid sequences shared with human proteins using the Protein International Resource database and the exact peptide matching analysis program. We find that the viral polyprotein shares numerous hexapeptides with the human proteome. The human proteins involved in the viral overlap are represented by antigens associated with basic cell functions such as proliferation, development, and differentiation. Of special importance, many human proteins that share peptide sequences with influenza A polyprotein are antigens such as reelin, neurexin I-α, myosin-IXa, Bardet-Biedl syndrome 10 protein, Williams syndrome transcription factor, disrupted in schizophrenia 1 protein, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein, fragile X mental retardation 2 protein, and jouberin. That is, the viral-vs-human overlap involves human proteins that, when altered, have been reported to be potentially associated with multiple neurological disorders that can include autism, epilepsy, obesity, dystonia, ataxia-telangiectasia, amyotrophic lateral sclerosis, sensorineural deafness, sudden infant death syndrome, Charcot-Marie-Tooth disease, and myelination. The present data are discussed as a possible molecular basis for understanding influenza A viral escape from immunosurveillance and for defining anti-influenza immune-therapeutic approaches devoid of collateral adverse events. PMID:20859452

  8. A case of McKusick-Kaufman syndrome

    Directory of Open Access Journals (Sweden)

    Se Hyung Son

    2011-05-01

    Full Text Available McKusick-Kaufman syndrome (MKS is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC and postaxial polydactyly (PAP. We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children’s Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasoundguided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

  9. Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7.

    Directory of Open Access Journals (Sweden)

    Kara Braunreiter

    Full Text Available Primary cilia play a role in the sensation of and response to the surrounding environment. Caenorhabditis elegans (C. elegans have primary cilia only on the distal tips of some dendrites. In order to better understand the relationship between receptor localization to cilia, cilia structure and cilia function, we have characterized a mutation originally identified in a forward genetic screen for mutants with defective PKD-2 ciliary localization. Through behavioral assays and examination of the structure of cilia in the cil-5 (my13 mutant animals, we have found that my13 disrupts not only receptor localization, but also some cilia-mediated sensory behaviors and cilia structural integrity. We have identified the my13 lesion and found that it is a missense mutation in bbs-7, an ortholog of human BBS-7, a gene known to affect human cilia and to be involved in Bardet-Biedl syndrome. Finally, we show that bbs-7(my13 also affects the glia cells which support the cilia.

  10. Functional coordination of intraflagellar transport motors.

    Science.gov (United States)

    Ou, Guangshuo; Blacque, Oliver E; Snow, Joshua J; Leroux, Michel R; Scholey, Jonathan M

    2005-07-28

    Cilia have diverse roles in motility and sensory reception, and defects in cilia function contribute to ciliary diseases such as Bardet-Biedl syndrome (BBS). Intraflagellar transport (IFT) motors assemble and maintain cilia by transporting ciliary precursors, bound to protein complexes called IFT particles, from the base of the cilium to their site of incorporation at the distal tip. In Caenorhabditis elegans, this is accomplished by two IFT motors, kinesin-II and osmotic avoidance defective (OSM)-3 kinesin, which cooperate to form two sequential anterograde IFT pathways that build distinct parts of cilia. By observing the movement of fluorescent IFT motors and IFT particles along the cilia of numerous ciliary mutants, we identified three genes whose protein products mediate the functional coordination of these motors. The BBS proteins BBS-7 and BBS-8 are required to stabilize complexes of IFT particles containing both of the IFT motors, because IFT particles in bbs-7 and bbs-8 mutants break down into two subcomplexes, IFT-A and IFT-B, which are moved separately by kinesin-II and OSM-3 kinesin, respectively. A conserved ciliary protein, DYF-1, is specifically required for OSM-3 kinesin to dock onto and move IFT particles, because OSM-3 kinesin is inactive and intact IFT particles are moved by kinesin-II alone in dyf-1 mutants. These findings implicate BBS ciliary disease proteins and an OSM-3 kinesin activator in the formation of two IFT pathways that build functional cilia. PMID:16049494

  11. An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

    Directory of Open Access Journals (Sweden)

    Chunmei Li

    2008-03-01

    Full Text Available MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1, but whose cellular function(s remains unknown. Here we demonstrate that the C. elegans MIP-T3 ortholog DYF-11 is an intraflagellar transport (IFT protein that plays a critical role in assembling functional kinesin motor-IFT particle complexes. We have cloned a loss of function dyf-11 mutant in which several key components of the IFT machinery, including Kinesin-II, as well as IFT subcomplex A and B proteins, fail to enter ciliary axonemes and/or mislocalize, resulting in compromised ciliary structures and sensory functions, and abnormal lipid accumulation. Analyses in different mutant backgrounds further suggest that DYF-11 functions as a novel component of IFT subcomplex B. Consistent with an evolutionarily conserved cilia-associated role, mammalian MIP-T3 localizes to basal bodies and cilia, and zebrafish mipt3 functions synergistically with the Bardet-Biedl syndrome protein Bbs4 to ensure proper gastrulation, a key cilium- and basal body-dependent developmental process. Our findings therefore implicate MIP-T3 in a previously unknown but critical role in cilium biogenesis and further highlight the emerging role of this organelle in vertebrate development.

  12. Sensory ciliogenesis in Caenorhabditis elegans: assignment of IFT components into distinct modules based on transport and phenotypic profiles.

    Science.gov (United States)

    Ou, Guangshuo; Koga, Makato; Blacque, Oliver E; Murayama, Takashi; Ohshima, Yasumi; Schafer, Jenny C; Li, Chunmei; Yoder, Bradley K; Leroux, Michel R; Scholey, Jonathan M

    2007-05-01

    Sensory cilium biogenesis within Caenorhabditis elegans neurons depends on the kinesin-2-dependent intraflagellar transport (IFT) of ciliary precursors associated with IFT particles to the axoneme tip. Here we analyzed the molecular organization of the IFT machinery by comparing the in vivo transport and phenotypic profiles of multiple proteins involved in IFT and ciliogenesis. Based on their motility in wild-type and bbs (Bardet-Biedl syndrome) mutants, IFT proteins were classified into groups with similar transport profiles that we refer to as "modules." We also analyzed the distribution and transport of fluorescent IFT particles in multiple known ciliary mutants and 49 new ciliary mutants. Most of the latter mutants were snip-SNP mapped and one, namely dyf-14(ks69), was cloned and found to encode a conserved protein essential for ciliogenesis. The products of these ciliogenesis genes could also be assigned to the aforementioned set of modules or to specific aspects of ciliogenesis, based on IFT particle dynamics and ciliary mutant phenotypes. Although binding assays would be required to confirm direct physical interactions, the results are consistent with the hypothesis that the C. elegans IFT machinery has a modular design, consisting of modules IFT-subcomplex A, IFT-subcomplex B, and a BBS protein complex, in addition to motor and cargo modules, with each module contributing to distinct functional aspects of IFT or ciliogenesis. PMID:17314406

  13. Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia.

    Science.gov (United States)

    Efimenko, Evgeni; Blacque, Oliver E; Ou, Guangshuo; Haycraft, Courtney J; Yoder, Bradley K; Scholey, Jonathan M; Leroux, Michel R; Swoboda, Peter

    2006-11-01

    The intraflagellar transport (IFT) machinery required to build functional cilia consists of a multisubunit complex whose molecular composition, organization, and function are poorly understood. Here, we describe a novel tryptophan-aspartic acid (WD) repeat (WDR) containing IFT protein from Caenorhabditis elegans, DYF-2, that plays a critical role in maintaining the structural and functional integrity of the IFT machinery. We determined the identity of the dyf-2 gene by transgenic rescue of mutant phenotypes and by sequencing of mutant alleles. Loss of DYF-2 function selectively affects the assembly and motility of different IFT components and leads to defects in cilia structure and chemosensation in the nematode. Based on these observations, and the analysis of DYF-2 movement in a Bardet-Biedl syndrome mutant with partially disrupted IFT particles, we conclude that DYF-2 can associate with IFT particle complex B. At the same time, mutations in dyf-2 can interfere with the function of complex A components, suggesting an important role of this protein in the assembly of the IFT particle as a whole. Importantly, the mouse orthologue of DYF-2, WDR19, also localizes to cilia, pointing to an important evolutionarily conserved role for this WDR protein in cilia development and function. PMID:16957054

  14. An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

    Science.gov (United States)

    Li, Chunmei; Inglis, Peter N; Leitch, Carmen C; Efimenko, Evgeni; Zaghloul, Norann A; Mok, Calvin A; Davis, Erica E; Bialas, Nathan J; Healey, Michael P; Héon, Elise; Zhen, Mei; Swoboda, Peter; Katsanis, Nicholas; Leroux, Michel R

    2008-03-01

    MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1), but whose cellular function(s) remains unknown. Here we demonstrate that the C. elegans MIP-T3 ortholog DYF-11 is an intraflagellar transport (IFT) protein that plays a critical role in assembling functional kinesin motor-IFT particle complexes. We have cloned a loss of function dyf-11 mutant in which several key components of the IFT machinery, including Kinesin-II, as well as IFT subcomplex A and B proteins, fail to enter ciliary axonemes and/or mislocalize, resulting in compromised ciliary structures and sensory functions, and abnormal lipid accumulation. Analyses in different mutant backgrounds further suggest that DYF-11 functions as a novel component of IFT subcomplex B. Consistent with an evolutionarily conserved cilia-associated role, mammalian MIP-T3 localizes to basal bodies and cilia, and zebrafish mipt3 functions synergistically with the Bardet-Biedl syndrome protein Bbs4 to ensure proper gastrulation, a key cilium- and basal body-dependent developmental process. Our findings therefore implicate MIP-T3 in a previously unknown but critical role in cilium biogenesis and further highlight the emerging role of this organelle in vertebrate development. PMID:18369462

  15. The BBSome controls IFT assembly and turnaround in cilia.

    Science.gov (United States)

    Wei, Qing; Zhang, Yuxia; Li, Yujie; Zhang, Qing; Ling, Kun; Hu, Jinghua

    2012-09-01

    The bidirectional movement of intraflagellar transport (IFT) particles, which are composed of motors, IFT-A and IFT-B subcomplexes, and cargoes, is required for the biogenesis and signalling of cilia(1,2). A successful IFT cycle depends on the proper assembly of the massive IFT particle at the ciliary base and its turnaround from anterograde to retrograde transport at the ciliary tip. However, how IFT assembly and turnaround are regulated in vivo remains elusive. From a whole-genome mutagenesis screen in Caenorhabditis elegans, we identified two hypomorphic mutations in dyf-2 and bbs-1 as the only mutants showing normal anterograde IFT transport but defective IFT turnaround at the ciliary tip. Further analyses revealed that the BBSome (refs 3, 4), a group of conserved proteins affected in human Bardet-Biedl syndrome(5) (BBS), assembles IFT complexes at the ciliary base, then binds to the anterograde IFT particle in a DYF-2- (an orthologue of human WDR19) and BBS-1-dependent manner, and lastly reaches the ciliary tip to regulate proper IFT recycling. Our results identify the BBSome as the key player regulating IFT assembly and turnaround in cilia. PMID:22922713

  16. Functional genomics of the cilium, a sensory organelle.

    Science.gov (United States)

    Blacque, Oliver E; Perens, Elliot A; Boroevich, Keith A; Inglis, Peter N; Li, Chunmei; Warner, Adam; Khattra, Jaswinder; Holt, Rob A; Ou, Guangshuo; Mah, Allan K; McKay, Sheldon J; Huang, Peter; Swoboda, Peter; Jones, Steve J M; Marra, Marco A; Baillie, David L; Moerman, Donald G; Shaham, Shai; Leroux, Michel R

    2005-05-24

    Cilia and flagella play important roles in many physiological processes, including cell and fluid movement, sensory perception, and development. The biogenesis and maintenance of cilia depend on intraflagellar transport (IFT), a motility process that operates bidirectionally along the ciliary axoneme. Disruption in IFT and cilia function causes several human disorders, including polycystic kidneys, retinal dystrophy, neurosensory impairment, and Bardet-Biedl syndrome (BBS). To uncover new ciliary components, including IFT proteins, we compared C. elegans ciliated neuronal and nonciliated cells through serial analysis of gene expression (SAGE) and screened for genes potentially regulated by the ciliogenic transcription factor, DAF-19. Using these complementary approaches, we identified numerous candidate ciliary genes and confirmed the ciliated-cell-specific expression of 14 novel genes. One of these, C27H5.7a, encodes a ciliary protein that undergoes IFT. As with other IFT proteins, its ciliary localization and transport is disrupted by mutations in IFT and bbs genes. Furthermore, we demonstrate that the ciliary structural defect of C. elegans dyf-13(mn396) mutants is caused by a mutation in C27H5.7a. Together, our findings help define a ciliary transcriptome and suggest that DYF-13, an evolutionarily conserved protein, is a novel core IFT component required for cilia function. PMID:15916950

  17. A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish.

    Directory of Open Access Journals (Sweden)

    Yun Hee Kim

    Full Text Available Bardet-Biedl syndrome (BBS and nephronophthisis (NPH are hereditary autosomal recessive disorders, encoded by two families of diverse genes. BBS and NPH display several overlapping phenotypes including cystic kidney disease, retinitis pigmentosa, liver fibrosis, situs inversus and cerebellar defects. Since most of the BBS and NPH proteins localize to cilia and/or their appendages, BBS and NPH are considered ciliopathies. In this study, we characterized the function of the transcription factor Nphp7 in zebrafish, and addressed the molecular connection between BBS and NPH. The knockdown of zebrafish bbs1 and nphp7.2 caused similar phenotypic changes including convergent extension defects, curvature of the body axis, hydrocephalus, abnormal heart looping and cystic pronephros, all consistent with an altered ciliary function. Immunoprecipitation assays revealed a physical interaction between BBS1 and NPHP7, and the simultaneous knockdown of zbbs1 and znphp7.2 enhanced the cystic pronephros phenotype synergistically, suggesting a genetic interaction between zbbs1 and znphp7.2 in vivo. Deletion of zBbs1 or zNphp7.2 did not compromise cilia formation, but disrupted cilia motility. Although NPHP7 has been shown to act as transcriptional repressor, our studies suggest a crosstalk between BBS1 and NPHP7 in regulating normal function of the cilium.

  18. Unraveling the genetics of human obesity.

    Directory of Open Access Journals (Sweden)

    David M Mutch

    2006-12-01

    Full Text Available The use of modern molecular biology tools in deciphering the perturbed biochemistry and physiology underlying the obese state has proven invaluable. Identifying the hypothalamic leptin/melanocortin pathway as critical in many cases of monogenic obesity has permitted targeted, hypothesis-driven experiments to be performed, and has implicated new candidates as causative for previously uncharacterized clinical cases of obesity. Meanwhile, the effects of mutations in the melanocortin-4 receptor gene, for which the obese phenotype varies in the degree of severity among individuals, are now thought to be influenced by one's environmental surroundings. Molecular approaches have revealed that syndromes (Prader-Willi and Bardet-Biedl previously assumed to be controlled by a single gene are, conversely, regulated by multiple elements. Finally, the application of comprehensive profiling technologies coupled with creative statistical analyses has revealed that interactions between genetic and environmental factors are responsible for the common obesity currently challenging many Westernized societies. As such, an improved understanding of the different "types" of obesity not only permits the development of potential therapies, but also proposes novel and often unexpected directions in deciphering the dysfunctional state of obesity.

  19. Hippocampal and cortical primary cilia are required for aversive memory in mice.

    Directory of Open Access Journals (Sweden)

    Nicolas F Berbari

    Full Text Available It has been known for decades that neurons throughout the brain possess solitary, immotile, microtubule based appendages called primary cilia. Only recently have studies tried to address the functions of these cilia and our current understanding remains poor. To determine if neuronal cilia have a role in behavior we specifically disrupted ciliogenesis in the cortex and hippocampus of mice through conditional deletion of the Intraflagellar Transport 88 (Ift88 gene. The effects on learning and memory were analyzed using both Morris Water Maze and fear conditioning paradigms. In comparison to wild type controls, cilia mutants displayed deficits in aversive learning and memory and novel object recognition. Furthermore, hippocampal neurons from mutants displayed an altered paired-pulse response, suggesting that loss of IFT88 can alter synaptic properties. A variety of other behavioral tests showed no significant differences between conditional cilia mutants and controls. This type of conditional allele approach could be used to distinguish which behavioral features of ciliopathies arise due to defects in neural development and which result from altered cell physiology. Ultimately, this could lead to an improved understanding of the basis for the cognitive deficits associated with human cilia disorders such as Bardet-Biedl syndrome, and possibly more common ailments including depression and schizophrenia.

  20. A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish.

    Science.gov (United States)

    Kim, Yun Hee; Epting, Daniel; Slanchev, Krasimir; Engel, Christina; Walz, Gerd; Kramer-Zucker, Albrecht

    2013-01-01

    Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive disorders, encoded by two families of diverse genes. BBS and NPH display several overlapping phenotypes including cystic kidney disease, retinitis pigmentosa, liver fibrosis, situs inversus and cerebellar defects. Since most of the BBS and NPH proteins localize to cilia and/or their appendages, BBS and NPH are considered ciliopathies. In this study, we characterized the function of the transcription factor Nphp7 in zebrafish, and addressed the molecular connection between BBS and NPH. The knockdown of zebrafish bbs1 and nphp7.2 caused similar phenotypic changes including convergent extension defects, curvature of the body axis, hydrocephalus, abnormal heart looping and cystic pronephros, all consistent with an altered ciliary function. Immunoprecipitation assays revealed a physical interaction between BBS1 and NPHP7, and the simultaneous knockdown of zbbs1 and znphp7.2 enhanced the cystic pronephros phenotype synergistically, suggesting a genetic interaction between zbbs1 and znphp7.2 in vivo. Deletion of zBbs1 or zNphp7.2 did not compromise cilia formation, but disrupted cilia motility. Although NPHP7 has been shown to act as transcriptional repressor, our studies suggest a crosstalk between BBS1 and NPHP7 in regulating normal function of the cilium. PMID:24069149

  1. The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

    Science.gov (United States)

    Zlotogora, Joël

    2010-11-01

    The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database ( http://www.goldenhelix.org/server/israeli ). In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as well as data on 195 autosomal recessive diseases among Muslim Israeli Arabs, 11 among the Christian Arabs and 31 among Druze. A single mutation was characterized in 149 out of the 238 rare disorders for which the molecular basis was known. In many diseases, mutation had never been observed in any other population and was present in one family only suggesting that it occurred as a de novo event. In other diseases, the mutation was present in more than one community or even in other populations such as Bedouins from the Arab peninsula or Christians from Lebanon. In the 89 other disorders, more than one mutation was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes.

  2. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.

    Directory of Open Access Journals (Sweden)

    Rannar Airik

    Full Text Available Recessive mutations in the SDCCAG8 gene cause a nephronophthisis-related ciliopathy with Bardet-Biedl syndrome-like features in humans. Our previous characterization of the orthologous Sdccag8gt/gt mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage response signaling as an underlying disease mechanism in the kidney. However, several other phenotypic and mechanistic features of Sdccag8gt/gt mice remained unexplored. Here we show that Sdccag8gt/gt mice exhibit developmental and structural abnormalities of the skeleton and limbs, suggesting impaired Hedgehog (Hh signaling. Indeed, cell culture studies demonstrate the requirement of SDCCAG8 for ciliogenesis and Hh signaling. Using an affinity proteomics approach, we demonstrate that SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1, of the endosomal sorting complex (RABEP2, ERC1, and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14 at the centrosome. Furthermore, we show that RABEP2 localization at the centrosome is regulated by SDCCAG8. siRNA mediated RABEP2 knockdown in hTERT-RPE1 cells leads to defective ciliogenesis, indicating a critical role for RABEP2 in this process. Together, this study identifies several centrosome-associated proteins as novel SDCCAG8 interaction partners, and provides new insights into the function of SDCCAG8 at this structure.

  3. Chemisorption and Reactions of Small Molecules on Small Gold Particles

    Directory of Open Access Journals (Sweden)

    Geoffrey C. Bond

    2012-02-01

    Full Text Available The activity of supported gold particles for a number of oxidations and hydrogenations starts to increase dramatically as the size falls below ~3 nm. This is accompanied by an increased propensity to chemisorption, especially of oxygen and hydrogen. The explanation for these phenomena has to be sought in kinetic analysis that connects catalytic activity with the strength and extent of chemisorption of the reactants, the latter depending on the electronic structure of the gold atoms constituting the active centre. Examination of the changes to the utilisation of electrons as particle size is decreased points to loss of metallic character at about 3 nm, as energy bands are replaced by levels, and a band gap appears. Detailed consideration of the Arrhenius parameters (E and ln A for CO oxidation points clearly to a step-change in activity at the point where metallic character is lost, as opposed to there being a monotonic dependence of rate on a physical property such as the fraction of atoms at corners or edges of particles. The deplorable scarcity of kinetic information on other reactions makes extension of this analysis difficult, but non-metallic behaviour is an unavoidable property of very small gold particles, and therefore cannot be ignored when seeking to explain their exceptional activity.

  4. Beam Coupling Impedances of Small Discontinuities

    CERN Document Server

    Kurennoy, S S

    2000-01-01

    A general derivation of the beam coupling impedances produced by small discontinuities on the wall of the vacuum chamber of an accelerator is reviewed. A collection of analytical formulas for the impedances of small obstacles is presented.

  5. New Funding Opportunities for Small Businesses Announced

    Science.gov (United States)

    The National Cancer Institute Small Business Innovation Research (SBIR) program recently announced $8 million in new contract funding opportunities to assist small businesses with cancer research and technology development. The 12 new contract funding opp

  6. Cancer Statistics: Cancer of the Small Intestine

    Science.gov (United States)

    ... party. HPF: SEER Stat Fact Sheets: Small Intestine Cancer Expand All Collapse All Lifetime risk estimates are ... Or More after Being Diagnosed with Small Intestine Cancer? Relative survival statistics compare the survival of patients ...

  7. Enabling Technology for Small Satellite Launch Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Access to space for Small Satellites is enabled by the use of excess launch capacity on existing launch vehicles. A range of sizes, form factors and masses of small...

  8. Lung cancer - non-small cell

    Science.gov (United States)

    Cancer - lung - non-small cell; Non-small cell lung cancer; NSCLC; Adenocarcinoma - lung; Squamous cell carcinoma - lung ... Smoking causes most cases (around 90%) of lung cancer. The risk depends on the number of cigarettes ...

  9. Is small business a safety problem?

    OpenAIRE

    Larsson, Tore J

    2003-01-01

    Common beliefs in relation to safety in small business are of two types; a) small businesses are more unsafe, apply unsafe practices, and thus have a higher incidence of occupational injury and a higher average severity of injury, and b) small business have poor knowledge of, and exhibit low compliance with, laws, rules and regulations, and are increasingly difficult to control. A survey of 100 small business operators in the suburbs of Melbourne, Australia was undertaken. Ten different indus...

  10. Marketing Channels Used by Small Tennessee Farmers

    OpenAIRE

    Tegegne, Fisseha; Pasirayi, Simbarashe; Singh, Surendra P.; Ekanem, Enefiok P.

    2012-01-01

    One of the key challenges that small farmers face is marketing their products. National and international markets are difficult to tap into for small farmers due to their inability to compete with large farm operators that dominate these markets. The objective of this study was to examine marketing channels used by small Tennessee Farmers. A mail survey was sent to 250 selected small farmers in Tennessee. Ninety-two completed responses, representing about 37% response rate, were received. Ove...

  11. Myoglobin in pelagic small cetaceans.

    Science.gov (United States)

    Dolar, M L; Suarez, P; Ponganis, P J; Kooyman, G L

    1999-02-01

    Although myoglobin (Mb) is considered to contribute significantly to the oxygen and diving capacity of marine mammals, few data are available for cetaceans. Cetacean by-catch in the tuna driftnet fisheries in the Sulu Sea, Philippines, afforded the opportunity to examine Mb content and distribution, and to determine muscle mass composition, in Fraser's (Lagenodelphis hosei) and spinner (Stenella longirostris) dolphins and a pygmy killer whale (Feresa attenuata). Age was estimated by body length determination. Stomach contents were analyzed for the presence or absence of milk and solid foods. It was hypothesized (a) that Mb concentration ([Mb]) would be higher in Fraser's and spinner dolphins than in other small cetaceans because of the known mesopelagic distribution of their prey, (b) that [Mb] would vary among different muscles according to function during diving, and (c) that [Mb] would increase with age during development. The results were as follows. (1) Myoglobin concentrations of the longissimus muscle in adult Fraser's (6.8-7.2 g 100 g-1 muscle) and spinner (5-6 g 100 g-1 muscle) dolphins and in an immature pygmy killer whale (5.7 g 100 g-1 muscle) were higher than those reported previously for small cetaceans. (2) [Mb] varied significantly among the different muscle types in adult dolphins but not in calves; in adults, swimming muscles had significantly higher [Mb] than did non-swimming muscles, contained 82-86 % of total Mb, and constituted 75-80 % of total muscle mass. (3) Myoglobin concentrations in Fraser's and spinner dolphins increased with size and age and were 3-4 times greater in adults than in calves. The high Mb concentrations measured in the primary locomotory muscles of these pelagic dolphins are consistent with the known mesopelagic foraging behaviour of Fraser's and spinner dolphins and suggest that the pygmy killer whale is also a deep-diving species. The high Mb concentrations in epaxial, hypaxial and abdominal muscle groups also support

  12. 77 FR 46909 - Small Business Innovation Research (SBIR) Program and Small Business Technology Transfer (STTR...

    Science.gov (United States)

    2012-08-06

    ... Innovation Research (SBIR) Program and Small Business Technology Transfer (STTR) Program Policy Directives... Small Business Innovation Research (SBIR) and Small Business Technology Transfer Program (STTR) Policy... technology@sba.gov . SUPPLEMENTARY INFORMATION: I. Background Information SBA is publishing Policy...

  13. 27 CFR 19.912 - Small plants.

    Science.gov (United States)

    2010-04-01

    ... 27 Alcohol, Tobacco Products and Firearms 1 2010-04-01 2010-04-01 false Small plants. 19.912... OF THE TREASURY LIQUORS DISTILLED SPIRITS PLANTS Distilled Spirits For Fuel Use Permits § 19.912 Small plants. Persons wishing to establish a small plant shall apply for a permit as provided in...

  14. Understanding the statistics of small risks

    International Nuclear Information System (INIS)

    Monte Carlo analyses are used to show what inferences can and cannot be drawn when either a very small number of accidents result from a considerable exposure or where a very small number of people, down to a single individual, are exposed to small added risks. The distinction between relative and absolute uncertainty is illustrated. No new statistical principles are involved

  15. 7 CFR 201.42 - Small containers.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 3 2010-01-01 2010-01-01 false Small containers. 201.42 Section 201.42 Agriculture... REGULATIONS Sampling in the Administration of the Act § 201.42 Small containers. In sampling seed in small containers that it is not practical to sample as required in § 201.41, a portion of one unopened container...

  16. Mutual Guarantee Institutions and Small Business Finance

    NARCIS (Netherlands)

    Columba, F.; Gambacorta, L.; Mistrulli, P.E.

    2009-01-01

    A large literature showed that small firms experience difficulties in accessing the credit market due to informational asymmetries; these may be mitigated by collateral or relationship lending, possibilities often precluded to small business. We investigate the effect on small business finance of an

  17. Yes, small firms can commercialize photonics

    Science.gov (United States)

    Nelson, Carl W.

    1997-01-01

    Small young companies can commercialize photonics. Many are already doing so and may more are getting started with a small government subsidy from Small Business Innovation Research. Capital is gushing, even begging for good investment opportunities, for companies ready to commit themselves to commercial success.

  18. Finding the "Right Staff" in Small Firms

    Science.gov (United States)

    Barrett, Rowena; Neeson, Robyn; Billington, Leo

    2007-01-01

    Purpose: The purpose of this paper is to explore what owners of small firms are looking for from new employees. The aim is to pursue this in light of the debate around formality and informality of small firm HRM, exploring the extent to which the small firms studied had formalized HRM practices. Design/methodology/approach: The data reported here…

  19. Assessing prospects for small reactors

    International Nuclear Information System (INIS)

    The use of nuclear power plants, like that of many other technologies, has been characterized by substantial growth in spread, numbers, equipment and plant sizes, with economies of scale generally favouring the large plants. Small and medium sized nuclear power plants, or SMPRs, are generally understood to be plants below the sizes being exploited commercially in industrialized countries. Such plants could be more readily adapted to smaller electric grids, particularly in developing countries, fulfilling requirements of low load growth, or serve remote locations or special purposes. The SMPR range is currently understood as the 200 to 500 megawatt (MWe) size for the generation of electricity and sometimes smaller for process-steam and/or low-temperature heat supply. For statistical purposes a size limit of 600 MWe has been in use by IAEA for some years. By this criterion some 140 nuclear power plants, or more than one-third of the world total, could be considered SMPRs. However, most of them are rather old vintage. Prospects are assessed under headings: indications of revived interest; today's SMPR supply situation; evolving IAEA programme - new study; market indications; economic competitiveness and financing aspects. (author)

  20. Neurological examination in small animals

    Directory of Open Access Journals (Sweden)

    Viktor Paluš

    2014-03-01

    Full Text Available This clinical review about the neurological examination in small animals describes the basics about the first steps of investigation when dealing with neurological patients. The knowledge of how to perform the neurological examination is important however more important is how to correctly interpret these performed tests. A step-by-step approach is mandatory and examiners should master the order and the style of performing these tests. Neurological conditions can be sometimes very distressing for owners and for pets that might not be the most cooperating. The role of a veterinary surgeon, as a professional, is therefore to collect the most relevant history, to examine a patient in a professional manner and to give to owners an educated opinion about the further treatment and prognosis. However neurological examinations might look challenging for many. But it is only the clinical application of neuroanatomy and neurophysiology to an every-day situation for practicing veterinarians and it does not require any specific in-to-depth knowledge. This clinical review is aimed not only to provide the information on how to perform the neurological examination but it is also aimed to appeal on veterinarians to challenge their daily routine and to start practicing on neurologically normal patients. This is the best and only way to differentiate between the normal and abnormal in a real situation.

  1. The small world of psychopathology.

    Directory of Open Access Journals (Sweden)

    Denny Borsboom

    Full Text Available BACKGROUND: Mental disorders are highly comorbid: people having one disorder are likely to have another as well. We explain empirical comorbidity patterns based on a network model of psychiatric symptoms, derived from an analysis of symptom overlap in the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV. PRINCIPAL FINDINGS: We show that a half of the symptoms in the DSM-IV network are connected, b the architecture of these connections conforms to a small world structure, featuring a high degree of clustering but a short average path length, and c distances between disorders in this structure predict empirical comorbidity rates. Network simulations of Major Depressive Episode and Generalized Anxiety Disorder show that the model faithfully reproduces empirical population statistics for these disorders. CONCLUSIONS: In the network model, mental disorders are inherently complex. This explains the limited successes of genetic, neuroscientific, and etiological approaches to unravel their causes. We outline a psychosystems approach to investigate the structure and dynamics of mental disorders.

  2. Aeration equipment for small depths

    Directory of Open Access Journals (Sweden)

    Sluše Jan

    2015-01-01

    Full Text Available Deficit of air in water causes complications with cyanobacteria mainly in the summer months. Cyanobacteria is a bacteria that produces poison called cyanotoxin. When the concentration of cyanobacteria increases, the phenomena „algal bloom“ appears, which is very toxic and may kill all the organisms. This article describes new equipment for aeration of water in dams, ponds and reservoirs with small depth. This equipment is mobile and it is able to work without any human factor because its control is provided by a GPS module. The main part of this equipment consists of a floating pump which pumps water from the surface. Another important part of this equipment is an aerator where water and air are blended. Final aeration process runs in the nozzles which provide movement of all this equipment and aeration of the water. Simulations of the flow are solved by multiphase flow with diffusion in open source program called OpenFOAM. Results will be verified by an experiment.

  3. Small Technology Business Incubation Needs

    Energy Technology Data Exchange (ETDEWEB)

    None

    2007-12-31

    This report contains a summary of typical business incubation needs of small technology companies. This document will serve as a guide in the design and implementation of services offered by the National Security Technology Incubator (NSTI), an incubator program being designed and developed as part of the National Security Preparedness Project (NSPP), performed under a Department of Energy (DOE)/National Nuclear Security Administration (NNSA) grant. This report includes a brief description of the methodology used to perform the needs assessment and services proposed to meet the needs of client companies. The purpose of the NSPP is to promote national security technologies through business incubation, technology demonstration and validation, and workforce development. The NSTI will focus on serving businesses with national security technology applications by nurturing them through critical stages of early development. The vision of the NSTI is to be a successful incubator of technologies and private enterprise that assist the NNSA in meeting new challenges in national safety, security, and protection of the homeland.

  4. Public acceptance of small reactors

    International Nuclear Information System (INIS)

    The success of any nuclear program requires acceptance by the local public and all levels of government involved in the decision to initiate a reactor program. Public acceptance of a nuclear energy source is a major challenge in successful initiation of a small reactor program. In AECL's experience, public acceptance will not be obtained until the public is convinced that the specific nuclear program is needed, safe and economic and environmental benefit to the community. The title of public acceptance is misleading. The objective of the program is a fully informed public. The program proponent cannot force public acceptance, which is beyond his control. He can, however, ensure that the public is informed. Once information has begun to flow to the public by various means as will be explained later, the proponent is responsible to ensure that the information that is provided by him and by others is accurate. Most importantly, and perhaps most difficult to accomplish, the proponent must develop a consultative process that allows the proponent and the public to agree on actions that are acceptable to the proponent and the community

  5. Small drops from large nozzles

    Science.gov (United States)

    Castrejon-Pita, Alfonso Arturo; Said Mohamed, Ahmed; Castrejon-Pita, Jose Rafael; Herrada, Miguel Angel

    2015-11-01

    We report experimental and numerical results of the generation of drops which are significantly smaller than the nozzle from which they are generated. The system consists of a cylindrical reservoir and two endplates. One plate is a thin metal sheet with a small orifice in its centre which acts as the nozzle. The other end consists of a piston which moves by the action of an elecromechanical actuator which in turn is driven by sine-shape pull-mode pulses. The meniscus (formed at the nozzle) is thus first overturned, forming a cavity. This cavity collapses and a thin and fast jet emerges from its centre. Under appropriate conditions the tip of this jet breaks up and produces a single diminutive drop. A good agreement between the experimental and numerical results was found. Also, a series of experiments were performed in order to study the effects that the pulse amplitude and width, together with variations in the liquid properties, have over the final size of the droplet. Based on these experiments, a predictive law for the droplet size has been derived. This work was funded by the Royal Society (University Research Fellowship and Research Grant), the John Fell Fund (Oxford University Press), the Ministry of Science and Education (DPI2013-46485 Spain), and the Junta de Andalucia (P08-TEP-31704128 Spain).

  6. Small is beautiful, and dry

    Institute of Scientific and Technical Information of China (English)

    SHERIDAN; John

    2010-01-01

    Thousands of plant and animal species have been observed to have superhydrophobic surfaces that lead to various novel behaviors. These observations have inspired attempts to create artificial superhydrophobic surfaces, given that such surfaces have multitudinous applications. Superhydrophobicity is an enhanced effect of surface roughness and there are known relationships that correlate surface roughness and superhydrophobicity, based on the underlying physics. However, while these examples demonstrate the level of roughness they tell us little about the independence of this effect in terms of its scale. Thus, they are not capable of explaining why such naturally occurring surfaces commonly have micron-submicron sizes. Here we report on the discovery of a new relation, its physical basis and its experimental verification. The results reveal that scaling-down roughness into the micro-submicron range is a unique and elegant strategy to not only achieve superhydrophobicity but also to increase its stability against environmental disturbances. This new relation takes into account the previously overlooked but key fact that the accumulated line energy arising from the numerous solid-water-air intersections that can be distributed over the apparent contact area, when air packets are trapped at small scales on the surface, can dramatically increase as the roughness scale shrinks. This term can in fact become the dominant contributor to the surface energy and so becomes crucial for accomplishing superhydrophobicity. These findings guide fabrication of stable super water-repellant surfaces.

  7. XP in a Small Software Development Business

    DEFF Research Database (Denmark)

    Babb, Jeffry; Hoda, Rashina; Nørbjerg, Jacob

    2014-01-01

    While small software development shops have trended towards the adoption of Agile methods, local conditions and high iteration pressure typically cause adaptations and appropriations of Agile methods. This paper shares evidence from a study concerning how a small software development company adop...... most sustainable for small shop teams, with process maintenance and viability as a goal, are highlighted.......While small software development shops have trended towards the adoption of Agile methods, local conditions and high iteration pressure typically cause adaptations and appropriations of Agile methods. This paper shares evidence from a study concerning how a small software development company adopts...

  8. Fast Development Of China's Small Satellite Industry

    Institute of Scientific and Technical Information of China (English)

    Sun Hongjin

    2009-01-01

    @@ China Spacesat Co., Ltd of China Academy of Space Technology (CAST) recently said, along with the successful launch of HJ-1A/B for the environment and disaster monitoring and forecasting small satellite constellation and after years of efforts, small satellite development technology has achieved fruitful results, and the development status has been greatly improved.China's small satellite technology has realized a great-leap-forward in development from a single satellite model to series model, from the satellite program to space industry. China has explored a development road for China's small satellite industrialization, and a modern small satellite development base has resulted.

  9. New developments in small reactors

    International Nuclear Information System (INIS)

    During the fifty years since nuclear fission was discovered, nuclear energy has emerged to play an increasingly important role in meeting global energy needs. At the recent World Energy Conference in Montreal, 1989 September, experts agreed that nuclear power will continue to be an essential part of the future energy mix. The demand for economic and reliable energy sources is driven by the growth in the world's population and the essential role energy plays in industrial development. Global energy requirements, expected to double over the next 40 years, will seriously challenge suppliers in their ability to meet the demand. Ultimately, efficient energy utilization will become singularly important. Industrialization and economic development manifest themselves in urbanization. Urban dwellers consume significantly more energy per capita compared with their rural neighbours. Consequently, concentrated and environmentally acceptable energy sources, combined with efficient distribution systems, are now recognized as essential to meet urban energy demands. In considering the alternatives that will meet these requirements, nuclear energy qualifies as both a concentrated and environmentally benign source. Nuclear electricity generation is a mature technology that paves the way for other applications. If nuclear energy is to realize its full potential as a safe and cost-effective alternative to fossil fuels, applications beyond those that are currently being serviced by large, central nuclear power stations must be identified, and appropriately designed and sized reactors developed as an investment in the future. To meet this potential, new small reactor concepts are being developed to satisfy the expected energy demands, while also displaying characteristics that address current public concerns for providing minimal environmental impact. Concepts ranging in sized from 10 MW(t) to 1000 MW(t) are being pursued in a number of countries, including Canada, USA, UK, China, and

  10. Large and small photovoltaic powerplants

    Science.gov (United States)

    Cormode, Daniel

    The installed base of photovoltaic power plants in the United States has roughly doubled every 1 to 2 years between 2008 and 2015. The primary economic drivers of this are government mandates for renewable power, falling prices for all PV system components, 3rd party ownership models, and a generous tariff scheme known as net-metering. Other drivers include a desire for decreasing the environmental impact of electricity generation and a desire for some degree of independence from the local electric utility. The result is that in coming years, PV power will move from being a minor niche to a mainstream source of energy. As additional PV power comes online this will create challenges for the electric grid operators. We examine some problems related to large scale adoption of PV power in the United States. We do this by first discussing questions of reliability and efficiency at the PV system level. We measure the output of a fleet of small PV systems installed at Tucson Electric Power, and we characterize the degradation of those PV systems over several years. We develop methods to predict energy output from PV systems and quantify the impact of negatives such as partial shading, inverter inefficiency and malfunction of bypass diodes. Later we characterize the variability from large PV systems, including fleets of geographically diverse utility scale power plants. We also consider the power and energy requirements needed to smooth those systems, both from the perspective of an individual system and as a fleet. Finally we report on experiments from a utility scale PV plus battery hybrid system deployed near Tucson, Arizona where we characterize the ability of this system to produce smoothly ramping power as well as production of ancillary energy services such as frequency response.

  11. EFFECT OF MARKET ORIENTATION ON SMALL BUSINESS PERORMANCE IN SMALL TOWN IN MALAYSIA: AN EMPRICAL STUDY ON MALAYSIAN SMALL FIRMS

    Directory of Open Access Journals (Sweden)

    Muhammad Masroor ALAM

    2010-01-01

    Full Text Available Most research on market orientation, and performance was related to big firms. In this study, based on the theoretical framework, a model was developed to investigate the effect of market orientation on business performance in small firms. To test the relationships among the variables, data from 53 small firms in the small town of Chunglun at Sintok, Kedah was used. The findings show that the three components of market orientation are related positive to business performance of small firms. The further analysis also confirmed that customer orientation and competitor orientation are strong predictors of small firm performance. The findings of this study confirm that market orientation behavior also applies to small firms.

  12. Small Modular Reactors: Institutional Assessment

    Energy Technology Data Exchange (ETDEWEB)

    Joseph Perkowski, Ph.D.

    2012-06-01

    ? Objectives include, among others, a description of the basic development status of “small modular reactors” (SMRs) focused primarily on domestic activity; investigation of the domestic market appeal of modular reactors from the viewpoints of both key energy sector customers and also key stakeholders in the financial community; and consideration of how to proceed further with a pro-active "core group" of stakeholders substantially interested in modular nuclear deployment in order to provide the basis to expedite design/construction activity and regulatory approval. ? Information gathering was via available resources, both published and personal communications with key individual stakeholders; published information is limited to that already in public domain (no confidentiality); viewpoints from interviews are incorporated within. Discussions at both government-hosted and private-hosted SMR meetings are reflected herein. INL itself maintains a neutral view on all issues described. Note: as per prior discussion between INL and CAP, individual and highly knowledgeable senior-level stakeholders provided the bulk of insights herein, and the results of those interviews are the main source of the observations of this report. ? Attachment A is the list of individual stakeholders consulted to date, including some who provided significant earlier assessments of SMR institutional feasibility. ? Attachments B, C, and D are included to provide substantial context on the international status of SMR development; they are not intended to be comprehensive and are individualized due to the separate nature of the source materials. Attachment E is a summary of the DOE requirements for winning teams regarding the current SMR solicitation. Attachment F deserves separate consideration due to the relative maturity of the SMART SMR program underway in Korea. Attachment G provides illustrative SMR design features and is intended for background. Attachment H is included for overview

  13. 78 FR 59410 - Small Business Innovation Research and Small Business Technology Transfer Programs...

    Science.gov (United States)

    2013-09-26

    ... ADMINISTRATION Small Business Innovation Research and Small Business Technology Transfer Programs... period for the Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR... Street SW., Washington, DC 20416; or send an email to Technology@sba.gov . Highlight the information...

  14. 12 CFR 32.7 - Residential real estate loans, small business loans, and small farm loans.

    Science.gov (United States)

    2010-01-01

    ... 12 Banks and Banking 1 2010-01-01 2010-01-01 false Residential real estate loans, small business loans, and small farm loans. 32.7 Section 32.7 Banks and Banking COMPTROLLER OF THE CURRENCY, DEPARTMENT OF THE TREASURY LENDING LIMITS § 32.7 Residential real estate loans, small business loans, and small farm loans. (a) Residential real...

  15. 77 FR 28237 - Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status...

    Science.gov (United States)

    2012-05-14

    ... / Monday, May 14, 2012 / Rules and Regulations#0;#0; ] SMALL BUSINESS ADMINISTRATION 13 CFR Part 124 RIN 3245-AF53 Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status Determinations; Correction AGENCY: U.S. Small Business Administration. ACTION:...

  16. SMALL ENTERPRENEURSHIP IN HOSPITALITY: CROATIAN EXPERIENCES

    Directory of Open Access Journals (Sweden)

    Slobodan Ivanovic

    2013-03-01

    Full Text Available After introductory explanations regarding the selection problems of small enterprises in the Croatian hotel industry, the author provides a number of key indicators of their role in improving the competitiveness of the Croatian hotel industry in the global tourism market. In developed tourism countries, small enterprises have a dominant share in the structure of the hotel industry, and their importance is growing even in the former socialist countries of Europe. Small hotels in Italy accounted for more than 50%, and in Austria with more than 70% of lodging facilities and represent a generator of hotel business in a large number of European tourism countries, and great attention is given to the small enterpreneurs stimulating their growth with different measures of tourist and general economy politics. The author reflects on the Croatian experience of the small businesses in the hospitality through research of development of small family hotels and their importance for the improvement of the supply of the Croatian hotel industry which future is built on personal approach to guests and present trends in the tourism market. States that the role of the National Association of family and small hotels, which represents the specific interests of small hoteliers and enables the continuous improvement of the quality of their offerings, as well as measures to encourage small business development at the macro level. Based on the made analysis the measures of increasing the efficiency of small businesses in the Croatian hospitality are given.

  17. Why Small Manufacturing Firms Shun DCF

    OpenAIRE

    Walker, Joe; Burns, Richard; Denson, Chad

    1993-01-01

    Although there is ample literature on the use of capital budgeting techniques by small firms, there is practically no research available on why small firms don’t use discounted cash flow methods. This paper looks at this rationale issue in die light of Brigham's 10 hypodieses (in Fundamentals of Financial Management, sixth edition). Support is found primarily for Brigham’s ignorance hypothesis, but also for his other hypotheses concerning small firms’ short-run cash flow orientation, the comp...

  18. Small Package Transportation Companies: An Exploratory Analysis

    OpenAIRE

    Scott Lee WILLIAMS; Nabil RAZZOUK; Victoria SEITZ

    2008-01-01

    Purpose: To determine the evaluative criteria used when choosing small-package transportation companies, the level of importance of selected criteria, and how selected package carriers are perceived by small business decision makers. Methodology: Data were collected via self-administered questionnaires from a total of 31 decision makers in small businesses. The self-administered questionnaire was designed with four sections that handled separate but related topics. Questions from all four sec...

  19. Small animal dentistry in Canada: 1994 survey.

    OpenAIRE

    Haws, I J; Anthony, J .M.

    1996-01-01

    Small animal dentistry is a rapidly growing area of interest and specialization internationally, offering tremendous benefits to patients, clients, and practitioners. To date, no studies have been done to determine the standard of small animal dental care in Canada. A national mail survey was designed to document the prevalence of dental disease in small animal patients, the types of veterinary dental procedures being provided by practitioners, as well as home care recommendations and complia...

  20. Success Essentials of Yiwu Small Commodity Market

    OpenAIRE

    Han, Yu

    2013-01-01

    The objective of this thesis was to find the success factors of Yiwu Small Commodity Market. Beside this main objective, the historical reasons of Yiwu Small Commodity Market’s formation also have been analyzed. The purpose was to integrate the historical reasons and internal reasons together to get more comprehensive analysis results of Yiwu market. During the process of research, interviews of five shopkeepers in Yiwu Small Commodity Market were done. The interviews were held in April 2...

  1. Tweezers for Chimeras in Small Networks

    Science.gov (United States)

    Omelchenko, Iryna; Omel'chenko, Oleh E.; Zakharova, Anna; Wolfrum, Matthias; Schöll, Eckehard

    2016-03-01

    We propose a control scheme which can stabilize and fix the position of chimera states in small networks. Chimeras consist of coexisting domains of spatially coherent and incoherent dynamics in systems of nonlocally coupled identical oscillators. Chimera states are generally difficult to observe in small networks due to their short lifetime and erratic drifting of the spatial position of the incoherent domain. The control scheme, like a tweezer, might be useful in experiments, where usually only small networks can be realized.

  2. Small entrepreneurship in hospitality: Croatian experiences

    OpenAIRE

    Ivanovic, Slobodan; Rot, Eddy; Pretula, Miroslav

    2013-01-01

    After introductory explanations regarding the selection problems of small enterprises in the Croatian hotel industry, the author provides a number of key indicators of their role in improving the competitiveness of the Croatian hotel industry in the global tourism market. In developed tourism countries, small enterprises have a dominant share in the structure of the hotel industry, and their importance is growing even in the former socialist countries of Europe. Small hotels in Italy accounte...

  3. SMALL ENTERPRENEURSHIP IN HOSPITALITY: CROATIAN EXPERIENCES

    OpenAIRE

    Slobodan Ivanovic; Eddy Rot; Miroslav Pretula

    2013-01-01

    After introductory explanations regarding the selection problems of small enterprises in the Croatian hotel industry, the author provides a number of key indicators of their role in improving the competitiveness of the Croatian hotel industry in the global tourism market. In developed tourism countries, small enterprises have a dominant share in the structure of the hotel industry, and their importance is growing even in the former socialist countries of Europe. Small hotels in Italy accounte...

  4. Social media and small non profit organisations

    OpenAIRE

    Gulyás, A.

    2016-01-01

    This project sought to explore patterns of and views about social media adoption among small non-profit organisations and to identify mechanisms that could effectively support these organisations with their social media use. The following findings emerged from the study: • Social media are now part of the organisational infrastructure of small non-profits and the main ways in which they communicate with the public • Key variables that influence social media adoption among small no...

  5. Hydro climatic ranking of small Mediterranean islands

    OpenAIRE

    Ljubenkov, Igor

    2013-01-01

    Islands are specific environments whose natural features form the basis of social and economic development. It is particularly distinct on small islands. In hydrological terms, these are islands with surface areas between 100 and 1000 km2. There are 40 small islands in the Mediterranean Basin. Most of these have very limited water resources, due to their geological structure and precipitation regime. This paper outlines the basic geographical and climatic features of small Mediterranean islan...

  6. Small Intestinal Bacterial Overgrowth: A Comprehensive Review

    OpenAIRE

    Dukowicz, Andrew C.; Lacy, Brian E.; Levine, Gary M

    2007-01-01

    Small intestinal bacterial overgrowth (SIBO), defined as excessive bacteria in the small intestine, remains a poorly understood disease. Initially thought to occur in only a small number of patients, it is now apparent that this disorder is more prevalent than previously thought. Patients with SIBO vary in presentation, from being only mildly symptomatic to suffering from chronic diarrhea, weight loss, and malabsorption. A number of diagnostic tests are currently available, although the optim...

  7. Small Worlds: Strong Clustering in Wireless Networks

    CERN Document Server

    Brust, Matthias R

    2007-01-01

    Small-worlds represent efficient communication networks that obey two distinguishing characteristics: a high clustering coefficient together with a small characteristic path length. This paper focuses on an interesting paradox, that removing links in a network can increase the overall clustering coefficient. Reckful Roaming, as introduced in this paper, is a 2-localized algorithm that takes advantage of this paradox in order to selectively remove superfluous links, this way optimizing the clustering coefficient while still retaining a sufficiently small characteristic path length.

  8. Small is beautiful: Russian compact reactors

    Energy Technology Data Exchange (ETDEWEB)

    Ivanov, A.; Perera, J.

    1994-06-30

    Large areas of Russian territory still have no centralized electricity supply making them particularly suitable for the small nuclear power plants described in this article. Thirty small reactor designs have been assessed each generating between 1 MWe and 150 MWe. Six designs were selected as winners, two in each section of small, medium and large designs, capable of producing low cost electricity, efficiently. These are described briefly. plans are underway for the construction of some of the design winners in remote locations. (UK).

  9. Vanraj Mini-Tractors: Is Small Beautiful?

    OpenAIRE

    Pratik Modi

    2008-01-01

    This case presents the dilemma of the decision maker in selecting the most appropriate market segment for Vanraj 10 HP mini-tractors — an innovation from a small farmer in Gujarat, India. Four market segments were identified: small and marginal farmers, large farmers, industries, and horticulture farmers. Vanraj was economical and possessed all the features of a big tractor. Mr. Trivedi, the decision maker, believed that the tractor would serve the needs of small and marginal farmers better, ...

  10. New Orthogonal Small Set Kasami Code Sequence

    OpenAIRE

    I Nyoman Pramaita; I G.A.G.K. Diafari; DNKP Negara; Agus Dharma

    2015-01-01

    In this paper, the authors propose the design of a new orthogonal small set Kasami code sequence generated using combination of non-orthogonal m-sequence and small set Kasami code sequence. The authors demonstrate that the proposed code sequence has comparable auto-correlation function (ACF), cross- correlation function (CCF), peak cross-correlation values with that of the existing orthogonal small set Kasami code sequence. Though the proposed code sequence has less code sequence sets than th...

  11. Dynamic capabilities in small software firms

    OpenAIRE

    Kivelä, Marianne

    2007-01-01

    In this dissertation we study dynamic capabilities in small software firms. Small software firms find themselves in highly complex and turbulent environments that require dynamic capabilities to build, integrate and configure resources. While the literature describes a portfolio of such dynamic capabilities that can help firms to adapt to changing conditions, we could not find many definitions, models and studies on these capabilities suitable with particular focus on small software firms. Fu...

  12. Small wind planning and building successful installations

    CERN Document Server

    Clark, Nolan

    2013-01-01

    This book provides a cohesive guide to achieving successful small wind installations. It is a comprehensive information resource from one of the world's most experienced small wind professionals, covering all the key issues for small wind system development, from site and machine selection to international standards compliance. Engineers who are tasked with planning and developing these small wind systems, from choosing the best site and accurately estimating likely power output to obtaining proper permitting and troubleshooting operational inefficiencies, will find this book an ess

  13. ATLAS- lowering the muon small wheel

    CERN Multimedia

    2008-01-01

    ATLAS - the two muon small wheels lowered into the cavern Like briefly separated twin sisters, ATLAS’s small wheels were once again united at the experiment’s surface building at Point 1 on St Valentine’s Day. The lowering of the small wheels into the tunnel will mark the end of the installation of detector components for the experiment. At around 15.40 on Friday 29th February the ATLAS collaboration cracked open the champagne as the second of the small wheels was lowered into the cavern.

  14. The Innovation Types Evaluation of Small Business

    Institute of Scientific and Technical Information of China (English)

    WANG Wen-jie; TANG Bing-yong; Ronald K. Mitchell; XING Xi-rong

    2002-01-01

    The technology innovation and technology innovation capability plays an important role in management study of small business's growth and development. In this paper, the types of innovation in small business are discussed. Then, a hierarchy comprehensive fuzzy index system evaluating the types of small businesses is proposed. Because of the fuzziness of 15 factors used to analyze the small business, L-R fuzzy number is applied to describe the basic fuzzy state index. Furthermore, the corresponding fuzzy evaluation algorithm is designed. An application example indicated the effects of the methods.

  15. IMPROVEMENT OF SMALL BUSINESS CREDIT IN RUSSIA

    Directory of Open Access Journals (Sweden)

    Klimova N. V.

    2015-12-01

    Full Text Available Small business is the basis for the development of the national economy, providing 60% of revenues in foreign countries. In Russia, this sector is developing slowly due to lack of funding. In connection with the development of small business, lending is growing in popularity in this sphere. The state develops a variety of programs to support small businesses in the form of public and private lending institutions, venture capital funds, credit unions. However, the volume of lending to small business remains relatively low, due to mistrust of banks and credit organizations in the sphere of small business. Nevertheless, it is here, according to statistics, the debt on loans is only 1.5% of the total. The article describes the features of small business lending, it analyzes the dynamics of the volume of loans granted, and the amount of debt, identifies main obstacles to obtaining loans to entrepreneurs, gives the analysis of credit conditions of small business in Russia and Germany. The problem of credit was considered from two perspectives: from the perspective of credit institutions and the banks themselves. We have developed measures to improve credit conditions, which must take into account not only credit institutions but also the state. It is necessary to provide tax incentives, encouraging the establishment and development of insurance business associations, to support the creation of specialized banks lending to small businesses, the development of cooperation of small and large banks to increase bank lending and reduce credit risks

  16. Small firm subsistence and market dimensionality

    Science.gov (United States)

    Bruggeman, Jeroen; Péli, Gábor

    2014-04-01

    In many markets, large and small firms coexist. As large firms can in principle out-compete small ones, the actual presence of the latter asks for an explanation. In ours, we focus on the dimensionality of markets, which can change as a consequence of product innovations, preference elaboration or institutions. We show that increasing market dimensionality substantially enlarges the market periphery relative to the market center, which creates new potential niches for small firms. We thereby provide a parsimonious explanation for small firm subsistence.

  17. Role of Small Airways in Asthma.

    Science.gov (United States)

    Finkas, Lindsay K; Martin, Richard

    2016-08-01

    Asthma is an inflammatory condition of both the small and large airways. Recently the small airways have gained attention as studies have shown significant inflammation in the small airways in all severities of asthma. This inflammation has correlated with peripheral airway resistance and as a result, noninvasive methods to reliably measure small airways have been pursued. In addition, recent changes in asthma inhalers have led to alterations in drug formulations and the development of extrafine particle inhalers that improve delivery to the distal airways. PMID:27401620

  18. Small-bowel permeability in collagenous colitis

    DEFF Research Database (Denmark)

    Wildt, Signe; Madsen, Jan L; Rumessen, Jüri J

    2006-01-01

    OBJECTIVE: Collagenous colitis (CC) is a chronic inflammatory bowel disease that affects the colon. However, some patients with CC present with accompanying pathologic small-bowel manifestations such as coeliac disease, defects in bile acid absorption and histopathologic changes in small-intestin......OBJECTIVE: Collagenous colitis (CC) is a chronic inflammatory bowel disease that affects the colon. However, some patients with CC present with accompanying pathologic small-bowel manifestations such as coeliac disease, defects in bile acid absorption and histopathologic changes in small...

  19. Small business executives and health insurance: findings from a national survey of very small firms.

    Science.gov (United States)

    Holve, Erin; Brodie, Mollyann; Levitt, Larry

    2003-09-01

    Previous researchers have documented that very small businesses (3-24 workers) are less likely to offer employees health insurance than larger corporations. This study supplements previous findings on the prevalence of health insurance among small firms. The authors also attempt to illuminate reasons behind coverage decisions by interviewing small business owners and executives, who most often make health benefits decisions on behalf of their employees. The study examines attitudes about health insurance, opinions, and practices in these very small firms, and the response of small business owners to policy alternatives designed to expand coverage in small businesses.

  20. 14 CFR 252.13 - Small aircraft.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 4 2010-01-01 2010-01-01 false Small aircraft. 252.13 Section 252.13 Aeronautics and Space OFFICE OF THE SECRETARY, DEPARTMENT OF TRANSPORTATION (AVIATION PROCEEDINGS) ECONOMIC REGULATIONS SMOKING ABOARD AIRCRAFT § 252.13 Small aircraft. Air carriers shall prohibit smoking on...