Sample records for bardet-biedl syndrome-associated small

  1. Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans.

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    Calvin A Mok


    Full Text Available Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome (BBS proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. Here we report the identification of mutations in guanylate cyclases (GCYs as modifiers of Caenorhabditis elegans bbs endophenotypes. The loss of GCY-35 or GCY-36 results in suppression of the small body size, developmental delay, and exploration defects exhibited by multiple bbs mutants. Moreover, an effector of cGMP signalling, a cGMP-dependent protein kinase, EGL-4, also modifies bbs mutant defects. We propose that a misregulation of cGMP signalling, which underlies developmental and some behavioural defects of C. elegans bbs mutants, may also contribute to some BBS features in other organisms.

  2. Genetics Home Reference: Bardet-Biedl syndrome (United States)

    ... Citation on PubMed Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links Copyright ...

  3. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. (United States)

    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Vinhaes


    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.

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

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    Valavi Ehsan


    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.

  5. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review


    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt,Alcina Vinhaes


    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneou...

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

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    Meral Torun Bayram


    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.

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

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


    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....

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

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


    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

  9. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. (United States)

    Forsythe, Elizabeth; Sparks, Kathryn; Best, Sunayna; Borrows, Sarah; Hoskins, Bethan; Sabir, Ataf; Barrett, Timothy; Williams, Denise; Mohammed, Shehla; Goldsmith, David; Milford, David V; Bockenhauer, Detlef; Foggensteiner, Lukas; Beales, Philip L


    Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1-19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet-Biedl syndrome-related renal disease attending the United Kingdom national Bardet-Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD. Overall, 31% of children and 42% of adults had CKD; 6% of children and 8% of adults had stage 4-5 CKD. In children, renal disease was often detected within the first year of life. Analysis of the most commonly mutated disease-associated genes revealed that, compared with two truncating mutations, two missense mutations associated with less severe CKD in adults. Moreover, compared with mutations in BBS10, mutations in BBS1 associated with less severe CKD or lack of CKD in adults. Finally, 51% of patients with available ultrasounds had structural renal abnormalities, and 35% of adults were hypertensive. The presence of structural abnormalities or antihypertensive medication also correlated statistically with stage 3b-5 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet-Biedl syndrome and identifies risk factors to be considered in genetic counseling.

  10. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

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    Luis Jesuino de Oliveira Andrade


    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.


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    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. (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


    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. (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


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

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


    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.

  15. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. (United States)

    Rahmouni, Kamal; Fath, Melissa A; Seo, Seongjin; Thedens, Daniel R; Berry, Christopher J; Weiss, Robert; Nishimura, Darryl Y; Sheffield, Val C


    Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and cardiovascular disease. We previously developed knockout mouse models of 3 BBS genes: BBS2, BBS4, and BBS6. To dissect the mechanisms involved in the metabolic disorders associated with BBS, we assessed the development of obesity in these mouse models and found that BBS-null mice were hyperphagic, had low locomotor activity, and had elevated circulating levels of the hormone leptin. The effect of exogenous leptin on body weight and food intake was attenuated in BBS mice, which suggests that leptin resistance may contribute to hyperleptinemia. In other mouse models of obesity, leptin resistance may be selective rather than systemic; although mice became resistant to leptin's anorectic effects, the ability to increase renal sympathetic nerve activity (SNA) was preserved. Although all 3 of the BBS mouse models were similarly resistant to leptin, the sensitivity of renal SNA to leptin was maintained in Bbs4 -/- and Bbs6 -/- mice, but not in Bbs2 -/- mice. Consequently, Bbs4 -/- and Bbs6 -/- mice had higher baseline renal SNA and arterial pressure and a greater reduction in arterial pressure in response to ganglionic blockade. Furthermore, we found that BBS mice had a decreased hypothalamic expression of proopiomelanocortin, which suggests that BBS genes play an important role in maintaining leptin sensitivity in proopiomelanocortin neurons.

  16. 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

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    伊鹏; 刘虹; 买合木提江买买提; 赛排尔江艾尼; 牛会林


    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

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

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    Brian H Lee


    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.

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

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    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

  19. Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome, a monogenic obesity disorder. (United States)

    Daskalakis, Markos; Till, Holger; Kiess, Wieland; Weiner, Rudolf A


    Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a wide range of phenotypic variability and associated with the development of life-threatening obesity. Birth weight tends to be normal, but rapid weight gain begins after the first year, probably due to polyphagia rather than abnormalities in energy metabolism. A morbidly obese 16-year-old male patient with BBS was referred to our institution, after nonsurgical methods of weight control had failed, for surgical treatment of his obesity. His preoperative body mass index (BMI) was 52.28 kg/m(2) (height, 1.84 m; weight, 177 kg) and was above the 99th centile for age and gender. The patient underwent laparoscopic Roux-en-Y gastric bypass (RYGBP). The postoperative period was uneventful. Three and a half years after the operation, the patient's weight has decreased to 118 kg (BMI, 34.85 kg/m(2)), while significant improvement in his hypertension, hyperuricemia, and mobility has been noted. In our BBS patient, RYGBP proved to be safe and effective; nevertheless, longer follow-up is required to evaluate the weight loss durability and to assess the lasting beneficial effect of surgical intervention on genetically determined co-morbidities.

  20. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (United States)

    Baker, Kate; Northam, Gemma B; Chong, W K; Banks, Tina; Beales, Philip; Baldeweg, Torsten


    Cilia are ubiquitous cell surface organelles with diverse roles from embryogenesis to adult life. The neurodevelopmental functions of the cilium are currently under investigation in animal systems, but relevance to human brain development remains uncertain. We present the first systematic investigation of structural neuroanatomy in a ciliopathy-Bardet-Biedl syndrome (BBS). Qualitative and quantitative aspects of brain structure were evaluated via magnetic resonance imaging in 10 patients with BBS (ages 14-28 years). In comparison to age and gender-matched healthy controls, BBS patients had significantly reduced total gray matter (GM) volume but no total white matter (WM) or cerebrospinal fluid volume changes. Voxel-based morphometric analysis indicated regional GM volume loss bilaterally in the anterior temporal lobes and in the medial orbitofrontal cortex, and WM volume loss in the right inferior longitudinal fasciculus. Region-of-interest measurements revealed reduced volume of the hippocampus. Two patients were found to have ventriculomegaly. Global GM reduction and regional volume reductions in the temporal lobe may underlie the learning disabilities and behavioral problems experienced by some patients with BBS. These findings are consistent with previous observations in mouse models of BBS, and further implicate the cilium in neurodevelopmental processes relevant to human cognitive function.

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

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    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan


    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.

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

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    Johnston Jennifer


    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

  3. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. (United States)

    Khan, Arif O; Decker, Eva; Bachmann, Nadine; Bolz, Hanno J; Bergmann, Carsten


    Bardet-Biedl syndrome (BBS) is a pleiotropic and clinically and genetically heterogeneous ciliopathy. Primary features are early-onset retinal dystrophy that is typically rod-cone, obesity, polydactyly, renal abnormalities, hypogonadism, and learning difficulties, but most patients do not present with the full clinical picture. In a BBS patient from a consanguineous marriage we performed next-generation sequencing targeting all known BBS genes and other genes known or hypothesized to cause ciliopathies. While no mutation was present in any of the recognized genes for BBS, we were able to identify the homozygous non-conservative mutation c.529C>T (p.Arg177Trp) in C8orf37 that segregated with the phenotype, affects an evolutionarily highly conserved residue, and is bioinformatically predicted to be pathogenic. The same mutation has been described in unrelated patients with non-syndromic cone-rod dystrophy and other C8orf37 changes were found in individuals with retinitis pigmentosa. We conclude that C8orf37 should be added to BBS screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features.

  4. Opsoclonus-myoclonus syndrome associated with non-small cell lung cancer. (United States)

    Karasaki, Takahiro; Tanaka, Makoto


    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.

  5. Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature

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    Meyer Günther


    Full Text Available Abstract Background and Case Presentation A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract. Conclusions We discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

  6. 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 ...

  7. Small intestinal bacterial overgrowth in irritable bowel syndrome: association with colon motility, bowel symptoms, and psychological distress. (United States)

    Grover, M; Kanazawa, M; Palsson, O S; Chitkara, D K; Gangarosa, L M; Drossman, D A; Whitehead, W E


    Small intestinal bacterial overgrowth (SIBO) has been implicated in the pathogenesis of irritable bowel syndrome (IBS), although the issue is still under debate. The aim of this study was to determine the prevalence of SIBO in those with IBS and its association with colonic motility, bowel symptoms and psychological distress. Sucrose hydrogen and methane breath tests were performed in 158 IBS patients and 34 healthy controls (HC). Thresholds for pain and urgency were tested by barostat in the descending colon. The motility index (MI) was calculated as the average area under the curve for all phasic contractions. Questionnaires assessed psychological distress, IBS symptom severity (IBS-SS), IBS quality of life (IBS-QOL) and self-reported bowel symptoms. Fifty-two of 158 (32.9%) IBS patients had abnormal breath tests compared with six of 34 (17.9%) HC (chi(2) = 0.079). SIBO (SIBO+) and non-SIBO (SIBO-) patients did not differ in the prevalence of IBS subtypes, IBS-SS, IBS-QOL and psychological distress variables. IBS patients had a greater post-distension increase in MI than HC, but there was no difference between SIBO+ and SIBO- patients. Predominant methane producers had higher urge thresholds (28.4 vs 18.3, P < 0.05) and higher baseline MI (461 vs 301.45, P < 0.05) than SIBO- IBS patients, and they reported more 'hard or lumpy stools' when compared with predominant hydrogen producers (P < 0.05) and SIBO- IBS patients (P < 0.05). SIBO is unlikely to contribute significantly to the pathogenesis of IBS. Methane production is associated with constipation.

  8. The Tourette Syndrome Association, Inc. (United States)

    Levi, Sue L.


    The article briefly describes the Tourette Syndrome Association, an association which works to advance public understanding, treatment, and the correct diagnosis of this neurological impairment, which can involve "bizarre" behavioral symptoms as well as learning, attention, and impulse control problems. (DB)

  9. 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


    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.

  10. Lynch syndrome-associated neoplasms

    DEFF Research Database (Denmark)

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


    of interacting developments from the disciplines of clinical oncology, pathology, and molecular genetics, with each development serving to guide or enhance the next. The advancement of our understanding about the pathology of Lynch syndrome associated tumors exemplifies such intimate interplay among disciplines....... Today, accumulative knowledge has enabled surgical pathologists to detect tumors that are likely to be associated with Lynch syndrome, and the pathologist is playing an increasingly more important role in the care of these patients. The pathologist's ability is afforded primarily by information gained...... 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...

  11. Genetic Syndromes Associated with Craniosynostosis. (United States)

    Ko, Jung Min


    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.

  12. Syndrome-Associated Tumors by Organ System. (United States)

    Gonzalez, Raul S; Riddle, Nicole D


    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.

  13. 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 ...

  14. Baller-Gerold syndrome associated with dextrocardia. (United States)

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


    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.

  15. 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



  16. Dominantly inherited isolated hyperparathyroidism: a syndromic association?

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K. [Department of Radiology, Royal Alexandra Hospital for Children, Sydney (Australia)]|[Department of Radiology, New Children`s Hospital, PO Box 3515, Parramatta, NSW 2124 (Australia); Czerminska-Kowalska, A. [Department of Radiology, Children`s Memorial Health Institute, Warsaw (Poland); Kulczycka, H.; Rowinska, E.; Pronicka, E. [Department of Metabolism, Children`s Memorial Health Institute, Warsaw (Poland)


    Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association. (orig.) With 7 figs., 3 tabs., 23 refs.

  17. MOMO syndrome associated with autism: a case report. (United States)

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


    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.

  18. MOMO syndrome associated with autism: a case report


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


    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.

  19. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

    Directory of Open Access Journals (Sweden)

    Sebiha Cevik

    Full Text Available Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ and inversin (Inv compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS, Meckel-Gruber Syndrome (MKS, Joubert Syndrome (JS and Nephronophthisis (NPHP. Despite major advances in understanding ciliary trafficking pathways such as intraflagellar transport (IFT, how proteins are transported to subciliary membranes remains poorly understood. Using Caenorhabditis elegans and mammalian cells, we investigated the transport mechanisms underlying compartmentalization of JS-associated ARL13B/ARL-13, which we previously found is restricted at proximal ciliary membranes. We now show evolutionary conservation of ARL13B/ARL-13 localisation to an Inv-like subciliary membrane compartment, excluding the TZ, in many C. elegans ciliated neurons and in a subset of mammalian ciliary subtypes. Compartmentalisation of C. elegans ARL-13 requires a C-terminal RVVP motif and membrane anchoring to prevent distal cilium and nuclear targeting, respectively. Quantitative imaging in more than 20 mutants revealed differential contributions for IFT and ciliopathy modules in defining the ARL-13 compartment; IFT-A/B, IFT-dynein and BBS genes prevent ARL-13 accumulation at periciliary membranes, whereas MKS/NPHP modules additionally inhibit ARL-13 association with TZ membranes. Furthermore, in vivo FRAP analyses revealed distinct roles for IFT and MKS/NPHP genes in regulating a TZ barrier to ARL-13 diffusion, and intraciliary ARL-13 diffusion. Finally, C. elegans ARL-13 undergoes IFT-like motility and quantitative protein complex analysis of human ARL13B identified functional associations with IFT-B complexes, mapped to IFT46 and IFT74

  20. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    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.

  1. Toxic shock syndrome associated with diaphragm use. (United States)

    Hyde, L


    A case report is presented of toxic shock syndrome associated wtih diaphragm use. The patient, an 18-year old white woman, gravida 1, para 1, was in good health prior to the reported episode. She had a low transverse cesarean section for fetal distress 3 months prior to admission and had not yet resumed menstruation. 48 hours prior to admission, after unprotected intercourse, she developed a vaginal discharge requiring the use of a pad. 12 hours later she used a diaphragm, left it in place overnight, and failed to remove it the next morning. During the day pelvic and lumbar pain developed, followed by vomiting and a fever as high as 103 degrees Farenheit. That evening, 12 hours before admission, the diaphragm was removed with drainage of copious purulent discharge. The edges of the diaphragm and the discharge were blood streaked. She also developed a diffuse macular blanching rash, sparing only the circumoral region. At the time of admission the following morning her blood pressure was 60/0mmHg; pulse, 180 beats/minute; and temperature, 102 degrees Farenheit. Significant physical findings included the rash, conjunctivitis, a pharyngeal infection, and a lack of adenopathy. Pelvic examination showed a vaginal discharge, a very tender, slightly enlarged warm uterus, and normal adnexa. Cultures of the vaginal discharge were positive for Staphylococcus aureus, resistant to penicillin and ampicillin, and sensitive to methicillin, cephalothin, erythromycin, colistin, chloramphenicol, tetracycline, sulfisoxazole, and aminoglycoside antibiotics. The white blood count rose from 11,000/mm on admission to a high of 13,000/mm with a left shift the next day. The patient received 1.2 million units of intravenous penicillin every 4 hours, 80 mg of gentamicin every 8 hours, and 300 mg of clindamycin every 6 hours, as well as fluid replacement of 2 g of methylprednisolone followed by 1 g every 6 hours. The shock, fever, and rash resolved in the following 48 hours. 2 days after

  2. Carpal tunnel syndrome associated with Kienböck disease (United States)

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


    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

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

    Directory of Open Access Journals (Sweden)

    E. Filippucci


    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.

  4. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (United States)


    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

  5. A case of Werner's syndrome associated with osteosarcoma. (United States)

    Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M


    We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.

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

    Directory of Open Access Journals (Sweden)

    Anderson Oliver


    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.

  7. Russell–Silver syndrome associated with low conus medullaris (United States)

    Gabor, Larisa; Canaz, Huseyin; Canaz, Gokhan; Kara, Nursu; Alatas, Ibrahim; Bozkus, Hakan


    Russell–Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell–Silver syndrome. We report a rare case of Russell–Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell–Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications. PMID:28217167

  8. Arq. Bras. Oftalmol.


    Andrade, Luis Jesuino de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt,Alcina Vinhaes


    p.694-696 Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly,pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetical...

  9. [A case of Sotos syndrome associated with peripheral nerve involvements]. (United States)

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


    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.

  10. Hypercalcemia-leukocytosis syndrome associated with lung cancer. (United States)

    Hiraki, Akio; Ueoka, Hiroshi; Takata, Ichiro; Gemba, Kenichi; Bessho, Akihiro; Segawa, Yoshihiko; Kiura, Katsuyuki; Eguchi, Kenji; Yoneda, Toshiyuki; Tanimoto, Mitsune; Harada, Mine


    Hypercalcemia and leukocytosis are two of the most common paraneoplastic syndromes associated with various malignancies. Of note, concomitant manifestation of hypercalcemia and leukocytosis are occasionally observed in the same cancer patients. However, the relationship between these two paraneoplastic syndromes and clinical outcome is unclear. In the present study, we retrospectively investigated the occurrence of hypercalcemia (> or = 10.2 mg/dl after adjustment for serum albumin concentration), leukocytosis (> or = 14,000/mm3 with no evidence of infection) or both in lung cancer patients (1149 cases). There were 65 cases (5.7%) of hypercalcemia, 16 cases (1.4%) of leukocytosis and six cases (0.5%) of both hypercalcemia and leukocytosis at the time of first presentation. The occurrence of these two distinct paraneoplastic syndromes in the same patients was more frequent than could have been expected by chance alone (P < 0.001). There was a significant correlation between the hypercalcemia-leukocytosis syndrome and performance status (P = 0.002). Survivals of patients with hypercalcemia alone (median survival time: MST 3.8 months, n = 59), leukocytosis alone (MST 1.9 months, n = 10), and the hypercalcemia-leukocytosis syndrome (MST 1.5 months, n = 6) were significantly shorter than those without them (MST 9.5 months, n = 1074; P < 0.001). Moreover, survival of patients with the hypercalcemia-leukocytosis syndrome was significantly shorter than that of patients with hypercalcemia alone (P = 0.013). On the other hand, there was no significant difference in survival between the hypercalcemia-leukocytosis syndrome and leukocytosis alone (P = 0.47). Multivariate analysis of prognostic factors using the Cox proportional hazards model could not demonstrate that the hypercalcemia-leukocytosis syndrome had independent prognostic significance. In conclusion, our results suggest that the hypercalcemia-leukocytosis syndrome is an additional clinical entity of paraneoplastic

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

    Directory of Open Access Journals (Sweden)

    Salete Da Silva Rios


    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.

  12. Porites white patch syndrome: associated viruses and disease physiology (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Paulo Sérgio Gonçalves da Costa


    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.

  14. New approaches to the treatments of short bowel syndrome-associated intestinal failure

    DEFF Research Database (Denmark)

    Jeppesen, Palle B


    PURPOSE OF REVIEW: Teduglutide, a recombinant analog of human glucagon-like peptide 2, has recently been approved in the US and Europe (Gattex and Revestive, respectively) as the first targeted treatment of short bowel syndrome-associated intestinal failure (SBS-IF). Glucagon-like peptide 2 impro...

  15. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Victor Gueutin


    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.

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

    Directory of Open Access Journals (Sweden)

    Tommy L. H. Chan


    Full Text Available 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.

  18. A case of Pallister-Killian syndrome associated with West syndrome. (United States)

    Yamamoto, Hitoshi; Fukuda, Miho; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku


    We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome.

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

    Directory of Open Access Journals (Sweden)

    Erkin Bilalov


    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.

  20. Elastic suture (shoelace technique) for fasciotomy closure after treatment of compartmental syndrome associated to tibial fracture. (United States)

    Branco, Paulo Sergio Martins Castelo; Cardoso Junior, Mauricio; Rotbande, Isaac; Ciraudo, José Antonio Fraga; Silva, Celso Ricardo Correa de Melo; Leal, Paulo Cesar Dos Santos


    This article reports the use of elastic suture as an adjuvant in surgical wound closure caused by decompressive fasciotomy after compartment syndrome associated with a compound fracture of the tibia. Widely used in other medico-surgical specialties, this technique is unusual in orthopedics surgery, but the simplicity of the procedure and the successful outcome observed in this case allows for its consideration as indicated for situations similar to that presented in this study.

  1. De Quervain's syndrome associated with osteopoikilosis: a case report and review of the literature. (United States)

    Kaparov, Asylbek; Uludag, Murat; Sari, Hidayet; Akarirmak, Ulkü


    Osteopoikilosis is a rare, usually asymptomatic, autosomal-dominant bone disorder, which is generally diagnosed incidentally on X-ray. De Quervain's syndrome is a disorder characterized by pain on the radial (thumb) side of the wrist, impairment of thumb function and thickening of the ligamentous structure covering the tendons in the first dorsal compartment of the wrist. In this case report, we present a young woman with De Quervain's syndrome associated with osteopoikilosis.

  2. Modified Calgary score in differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope in children. (United States)

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


    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.

  3. Asperger syndrome associated with idiopathic infantile nystagmus--a report of 2 cases. (United States)

    Kumar, Anil; Sarvananthan, Nagini; Proudlock, Frank; Thomas, Mervyn; Roberts, Eryl; Gottlob, Irene


    Asperger syndrome is a severe and chronic developmental disorder. It is closely associated with autism and is grouped under autism spectrum disorder (ASD). Various eye movement abnormalities in AS have been reported in literature such as increased errors and latencies on the antisaccadic task implicating dysfunction of the prefrontal cortex, impairment of the pursuit especially for targets presented in the right visual hemisphere, suggesting disturbance in the left extrastraite cortex. There are no reports in the literature of association between idiopathic infantile nystagmus (IIN) and AS. We report 2 cases of Asperger syndrome associated with idiopathic infantile nystagmus.

  4. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report. (United States)

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


    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.

  5. Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects. (United States)

    Ramachandran, Dhanya; Zeng, Zhen; Locke, Adam E; Mulle, Jennifer G; Bean, Lora J H; Rosser, Tracie C; Dooley, Kenneth J; Cua, Clifford L; Capone, George T; Reeves, Roger H; Maslen, Cheryl L; Cutler, David J; Feingold, Eleanor; Sherman, Stephanie L; Zwick, Michael E


    The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome-associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population.

  6. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report (United States)

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


    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

  7. Cronkhite-Canada syndrome associated with carcinoma of the sigmoid colon: report of a case. (United States)

    Nakatsubo, N; Wakasa, R; Kiyosaki, K; Matsui, K; Konishi, F


    Cronkhite-Canada syndrome is generally accepted as being a benign disorder. We herein present a 66-year-old-male patient with Cronkhite-Canada syndrome who had a carcinoma of the sigmoid colon along with multiple colonic polyps, which included juvenile-type polyps, adenomas, and hyperplastic polyps. In the world literature, there have been 34 cases of Cronkhite-Canada syndrome associated with colorectal carcinoma among the 280 reported cases of this syndrome. This report thus adds to the growing evidence that Cronkhite-Canada syndrome may be a premalignant condition for colorectal carcinoma. A periodic examination of the colon is therefore advised in order to detect any development of colorectal carcinoma at an early stage.

  8. Sweet syndrome associated with myelodysplastic syndrome: report of a case. Review of the literature. (United States)

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


    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.

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


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


    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

  10. PDGFRaa Signaling Is Regulated through the Primary Cilium in Fibroblasts

    DEFF Research Database (Denmark)

    Schneider, Linda; Clement, Christian Alexandro; Teilmann, S.C.


    or mislocation of ciliary signal components affects human pathologies, such as polycystic kidney disease [ 7 ] and disorders associated with Bardet-Biedl syndrome [ 8 ]. Primary cilia are essential for hedgehog ligand-induced signaling cascade regulating growth and patterning [ [9] and [10] ]. Here, we show...

  11. Assembly of primary cilia

    DEFF Research Database (Denmark)

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


    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...


    DEFF Research Database (Denmark)

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


    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...

  13. 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

  14. Clinical and Molecular Investigations Into Ciliopathies (United States)


    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

  15. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease. (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod


    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.

  16. Goldenhar syndrome associated with cleft lip and palate. A case report.

    Directory of Open Access Journals (Sweden)

    Nayaret Soto


    Full Text Available In the literature is possible to find an extense variety of syndromes associated with cleft palate, so in patients with this condition is essential to ask if the damage is or not associated with some syndrome. Necessary to provide adequate treatment. Case report: To the Service of Orthodontics, Las Higueras Hospital was derived a female patient, born on June 22th, 2012. Clinical diagnosis was cleft lip and full cracked palate with a GAP of 17mm, left and right macrostomia, malformed ears, epibulbar cyst in left eyeball, serie of oral papillomas and headphone level, apparently associating this condition to some kind of syndrome. It was made an acrylic plate for the patient can feed and initiates the treatment presurgical orthopedics. The mother recounts in the clinical History suffer diabetes, one of his sons has cognitive delay, not associated to syndrome. Imaging test shows mild hydrocephalus, jaw fully formation, normal audiometry. All changes are in facial area at the rest of the body is shown within normal parameters.Was performed a complete clinical and imaging examination and request help from geneticist, who collected all the facts confirm the presumptive diagnosis of Goldenhar syndrome.Many syndromes that manifest cleft palate are associated with genetic component, except that even Goldenhar syndrome of unknown cause.It is important to note that there are syndromes expressing varying degrees of severity of cracked palate to also give the patient a full treatment.

  17. [A Case of Pseudo-Meigs Syndrome Associated with Metachronous Ovarian Metastasis from Ascending Colon Cancer]. (United States)

    Yachi, Takafumi; Nishikawa, Shinsuke; Tokura, Tomohisa; Iwama, Masahiro; Akaishi, Takanobu; Umehara, Minoru; Umehara, Yutaka; Murata, Akihiko; Takahashi, Kenichi; Morita, Takayuki


    We experienced a case of pseudo-Meigs syndrome associated with metachronous metastasis to the ovary from ascending colon cancer. A 65-year-old woman underwent curative surgery for ascending colon cancer at another hospital. A follow-up CT carried out 3 months after the surgery revealed a right ovarian tumor and a large amount of ascites. The patient was diagnosed with ovarian metastasis from ascending colon cancer with carcinomatous peritonitis. Palliative care was recommended, and she presented at our department for a second opinion. In spite of a large amount of ascites and pleural effusion, no disseminating tumor was detected on contrast-enhanced CT at our hospital, and we recommended that she undergo a diagnostic laparotomy. The laparotomy was negative for carcinomatous peritonitis and a right oophorectomy was performed. The histopathological findings indicated that the ovarian tumor was consistent with metastasis from ascending colon cancer. After the surgery, we initiated chemotherapy with mFOLFOX6+bevacizumab and the symptoms were well controlled. A follow-up CT carried out 11 months after the surgery revealed a left ovarian tumor and increased ascites, and the patient underwent a left oophorectomy. Then, chemotherapy with the same regimen was administered for 12 months, and she did not develop any signs of recurrence for 27 months after the surgery. Ovarian metastasis from colon cancer may occasionally cause pseudo-Meigs syndrome, and it is important to be aware of the usefulness of oophorectomy for the control of ascites and pleural effusion.

  18. [A case of Sjögren's syndrome associated with EDTA-dependent pseudothrombocytopenia]. (United States)

    Hosokawa, T; Hinoda, Y; Imai, K


    A 69-year-old woman was admitted to Department of Orthopedic Surgery in our hospital because of lumbago on April 4, 1995. Since laboratory data showed thrombocytopenia (platelet count 2.1 x 10(4)/mm3) on admission, she was transferred to Department of Internal Medicine for further examination on April 11. She noticed abnormal taste and showed remarkable sicca symptoms. Schirmer test, gum test and electrogustometry were positive, and parotid sialogram findings and histology of minor salivary glands of the lip were compatible with those of typical Sjögren's syndrome. Thus, she was diagnosed as Sjögren's syndrome. Although the antibodies to SS-A/SS-B were negative in her serum, anti-nuclear and anti-centromere antibodies were strongly positive (x1280). Serum IgM level was increased. The decreased platelet count was observed when EDTA was used as anticoagulant. The binding activity of the anti-platelet antibody activated by EDTA was dependent on temperature. Its immunoglobulin class was shown to be IgM by enzyme-labelled antibody method. We here report a case of Sjögren's syndrome associated with EDTA-dependent pseudothrombocytopenia.

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

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


    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


    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. Primary biliary cirrhosis--autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome. (United States)

    Pamfil, Cristina; Candrea, Elisabeta; Berki, Emese; Popov, Horațiu I; Radu, Pompilia I; Rednic, Simona


    Autoimmune liver diseases may be associated with extrahepatic autoimmune pathology. We report the case of a 52-year old woman who initially presented to the gastroenterology department for extreme fatigue, pale stools, dark urine and pruritus. Laboratory tests showed significant cholestasis and elevation of aminotransferase levels. Immunological tests revealed positive antinuclear (ANA=1:320) and antimitochondrial antibodies (AMA=1:40) with negative anti-smooth muscle and liver kidney microsomal type 1 antibodies. The biopsy was compatible with overlap syndrome type 1. The patient was commenced on immunosuppressive therapy according to standard of care (azathioprine 50mg, ursodeoxycholic acid and prednisone 0.5mg/kg), with moderate biochemical improvement. She subsequently developed proximal symmetrical weakness and cutaneous involvement and was diagnosed with biopsy-proven dermatomyositis. The immunosuppressive regimen was intensified to 150 mg azathioprine. At the three-month follow-up, her symptoms subsided and aminotransferases and muscle enzymes normalized. Upon further investigation the patient was diagnosed with autoimmune thyroiditis and antiphospholipid syndrome. To our knowledge, this is the first case of primary biliary cirrhosis - autoimmune hepatitis overlap syndrome associated with dermatomyositis, autoimmune thyroiditis and antiphospholipid syndrome.

  2. A case of cerebral salt-wasting syndrome associated with aseptic meningitis in an 8-year-old boy. (United States)

    Inatomi, Jun; Yokoyama, Yoshiki; Sekine, Takashi; Igarashi, Takashi


    Cerebral salt-wasting syndrome is a disorder in which excessive natriuresis and subsequent hyponatremic dehydration occur in patients with intracranial diseases. Cerebral salt-wasting syndrome often develops in patients with severe neurosurgical disorders, such as hydrocephalus, cerebral infarction, and tuberculous meningitis. Here, we report on the case of an 8-year-old boy with cerebral salt-wasting syndrome associated with aseptic meningitis. He showed mild developmental retardation and had a history of convulsion. Four days after his admission, cerebral salt-wasting syndrome abruptly started: natriuresis and hyponatremia gradually improved over 10 days. To the best of our knowledge, this is the first report on cerebral salt-wasting syndrome associated with clinically benign aseptic meningitis.

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

    Directory of Open Access Journals (Sweden)

    Muhammad SAEED*


    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

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

    Directory of Open Access Journals (Sweden)

    Mariana Franco


    : 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. Comparison of Multilocus Variable-Number Tandem-Repeat Analysis and Multilocus Sequence Typing for Differentiation of Hemolytic-Uremic Syndrome-Associated Escherichia coli (HUSEC) Collection Strains▿



    Multilocus variable-number tandem-repeat analysis (MLVA) was compared to multilocus sequence typing (MLST) to differentiate hemolytic uremic syndrome-associated enterohemorrhagic Escherichia coli strains. Although MLVA—like MLST—was highly discriminatory (index of diversity, 0.988 versus 0.984), a low level of concordance demonstrated the limited ability of MLVA to reflect long-term evolutionary events.

  6. [Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case (United States)

    Silva, E O; Freitas, E M; Costa, S M; Duarte, A R


    OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.

  7. Hepatopulmonary syndrome associated with nodular regenerative hyperplasia after liver transplantation in a child. (United States)

    Alhosh, Rabea; Genyk, Yuri; Alexopoulos, Sophoclis; Thomas, Daniel; Zhou, Shengmei; Yanni, George; Kerkar, Nanda


    HPS is a significant complication of portal hypertension in children with chronic liver disease and is an established indication for LT. It is characterized clinically by the triad of pulmonary vascular dilatation causing hypoxemia in the setting of advanced liver disease. NRH, a cause of non-cirrhotic portal hypertension, is characterized by diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Development of NRH and HPS in pediatric LT recipients has not been reported, although occasional cases have been reported in adult LT recipients. In this report, we discuss a case of a three-yr-old male who developed HPS, two yr after LT. Pulmonary and cardiac causes for hypoxemia were ruled out by appropriate investigations including a chest X ray, echocardiogram, cardiac catheterization, and a CT angiographic study. The diagnosis of HPS was confirmed via bubble echocardiogram that demonstrated intrapulmonary shunting. Open liver biopsy revealed marked NRH. The patient underwent liver retransplantation that resulted in complete reversal of his pulmonary symptoms and normal oxygen saturations within three months after LT.

  8. Are obesity and metabolic syndrome associated with plasma adropin levels in children? (United States)

    Kocaoglu, Celebi; Buyukinan, Muammer; Erdem, Said Sami; Ozel, Ahmet


    Studies performed on mice suggest that adropin is a peptide hormone playing a role in metabolic homeostasis and prevention of obesity-associated insulin resistance. Our study was conducted to investigate the role of adropin in children with obesity or metabolic syndrome. The study group consisted of 70 patients, including 42 obese and 28 with metabolic syndrome, and 26 healthy volunteers. After anthropometric variables and blood pressure of all participants were measured, serum lipids were analyzed, liver USG and oral glucose tolerance test were performed, and HOMA-IR values were calculated. Plasma adropin levels were collectively analyzed from collected plasma samples. In patient and control groups, no difference was observed in the levels of adropin (327.7±124.7 vs. 344.6±208.5 ng/L, respectively). The adropin levels of metabolic syndrome, obesity, and control groups also showed no difference (316±142.3, 335.8±112.5, and 344.6±208.5 ng/L, respectively). While the adropin levels of patients with and without hepatic steatosis were 319.6±123.7 and 347.8±128.7 ng/L, respectively, patients with HOMA-IR values of metabolic syndrome. Small sample size in our study may have prevented our results to reach a more significant level. So, long-term follow-up studies with large population are needed to enlighten the role of adropin in metabolic homeostasis.

  9. The Fowler syndrome-associated protein FLVCR2 is an importer of heme. (United States)

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


    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.

  10. Spondylocostal dysostosis (Jarcho-Levine syndrome associated with occult spinal dysraphism: Report of two cases

    Directory of Open Access Journals (Sweden)

    Natarajan Muthukumar


    Full Text Available Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple. Examination revealed the right lower extremity was slightly thinner than the left. Plain radiographs showed features of spondylocostal dysostosis with scoliosis. Magnetic resonance imaging (MRI showed a type I split cord malformation at the lumbosacral junction with low-lying conus and terminal syringomyelia. Patient underwent excision of the bony spur uneventfully. A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth. Plain radiographs revealed features of spondylocostal dysostosis. MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus. The patient underwent excision of the spinal dermal sinus and untethering of the cord uneventfully. Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus. Physicians should be aware about the possibility of children with spondylocostal dysostosis harboring occult spinal dysraphic lesions so that these patients receive appropriate treatment.

  11. Significance of bifid epiglottis. (United States)

    Stevens, Cathy A; Ledbetter, Joel C


    Bifid epiglottis is a rare anomaly, which is heterogeneous and is often associated with other anomalies, particularly polydactyly. It has been reported in 40% of patients with Pallister-Hall syndrome and rarely in other syndromes. We report two brothers with bifid epiglottis who also have features suggestive of Bardet-Biedl syndrome. We also review the features seen in 22 patients reported in the literature with bifid epiglottis. No patient had bifid epiglottis as an isolated anomaly. Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, hypothalamic hamartomas, hypopituitarism, heart defects, and Hirschprung disease. Bifid epiglottis may be an under-recognized feature of Bardet-Biedl syndrome and should be considered in these patients, particularly if there are airway symptoms. Many of the anomalies associated with bifid epiglottis have potentially serious consequences and thus, a thorough evaluation of the patient with bifid epiglottis is warranted.

  12. 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


    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.

  13. Calf Compartment Syndrome associated with the Use of an Intra-osseous Line in an Adult Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Malhotra R


    Full Text Available We present a case of a lower limb compartment syndrome associated with the use of an intra-osseous line inserted into the proximal tibia in an adult patient. An unconscious 59-year old male with multiple injuries presented to our Emergency Department after a road traffic accident. Bilateral proximal tibial intra osseous-lines were inserted due to poor venous access. After resuscitation his left leg was noted to be tense and swollen with absent pulses. Acute compartment syndrome was diagnosed both clinically and with compartment pressure measurement. Two incision fasciotomy on his left lower leg was performed. Intra osseous-lines in the proximal tibia are increasingly used in adult patients in the pre-hospital setting by paramedics and emergency physicians. Their use, along with the possible complications of these devices, such as the development of compartment syndrome or osteomyelitis leading to amputation, is well reported in the paediatric literature. To the best of our knowledge, there have not been any previous reports of complications in the adult patient. We present a case of lower leg compartment syndrome developing from the use of an intra-osseous line in the proximal tibia in an adult patient. With the increasing use of intra-osseous lines in adult patients, clinicians should be aware of the possibility of developing compartment syndrome which may lead to disability or amputation in severe cases.

  14. Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis. (United States)

    Parvanescu, Alina; Cros, Jérôme; Ronot, Maxime; Hentic, Olivia; Grybek, Virginie; Couvelard, Anne; Levy, Philippe; Chanson, Philippe; Ruszniewski, Philippe; Sauvanet, Alain; Gaujoux, Sebastien


    GNAS-activating mutations are reported in intraductal papillary mucinous neoplasms (IPMNs) and in McCune-Albright syndrome, characterized by fibrous dysplasia, precocious puberty, and café au lait spots. Recently, IPMNs have been described as a McCune-Albright syndrome-associated tumor, present in about 15% of patients. The aim of the present work was to assess the prevalence of polyostotic fibrous dysplasia and McCune-Albright syndrome among patients operated on for presumptive sporadic IPMNs. All patients operated on for IPMNs between January 1, 2007, and December 31, 2012, with available imaging were retrospectively screened for polyostotic fibrous dysplasia based on their preoperative abdominal or thoracoabdominal spiral computed tomography images. Systematic screening of 272 patients operated on for IPMNs revealed 1 patient with axial and peripheral polyostotic fibrous dysplasia and café au lait spots on clinical examination suggestive of McCune-Albright syndrome. This patient had been operated on for an unusually large invasive colloid adenocarcinoma (pT3N0M0 R0) derived from an intestinal subtype GNAS-mutated IPMN. The patient underwent adjuvant chemotherapy with gemcitabine for 6 months and was alive without recurrence 6 years later. Besides providing additional evidence of a syndromic IPMN as a feature of McCune-Albright syndrome, this observation is further evidence of the functional oncogenic consequences of GNAS mutations in the pancreas.

  15. Inherited Retinal Degenerative Disease Registry (United States)


    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

  16. SAPHO syndrome associated spondylitis


    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa,Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship ...

  17. SAPHO syndrome associated spondylitis. (United States)

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  18. 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


    @@ 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.

  19. Mouse breast cancer model-dependent changes in metabolic syndrome-associated phenotypes caused by maternal dioxin exposure and dietary fat. (United States)

    La Merrill, Michele; Baston, David S; Denison, Michael S; Birnbaum, Linda S; Pomp, Daniel; Threadgill, David W


    Diets high in fat are associated with increased susceptibility to obesity and metabolic syndrome. Increased adipose tissue that is caused by high-fat diets (HFD) results in altered storage of lipophilic toxicants like 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), which may further increase susceptibility to metabolic syndrome. Because both TCDD and HFD are associated with increased breast cancer risk, we examined their effects on metabolic syndrome-associated phenotypes in three mouse models of breast cancer: 7,12-dimethylbenz[a]anthracene (DMBA), Tg(MMTV-Neu)202Mul/J (HER2), and TgN(MMTV-PyMT)634Mul/J (PyMT), all on an FVB/N genetic background. Pregnant mice dosed with 1 microg/kg of TCDD or vehicle on gestational day 12.5 were placed on a HFD or low-fat diet (LFD) at parturition. Body weights, percent body fat, and fasting blood glucose were measured longitudinally, and triglycerides were measured at study termination. On HFD, all cancer models reached the pubertal growth spurt ahead of FVB controls. Among mice fed HFD, the HER2 model had a greater increase in body weight and adipose tissue from puberty through adulthood compared with the PyMT and DMBA models. However, the DMBA model consistently had higher fasting blood glucose levels than the PyMT and HER2 models. TCDD only impacted serum triglycerides in the PyMT model maintained on HFD. Because the estrogenic activity of the HFD was three times lower than that of the LFD, differential dietary estrogenic activities did not drive the observed phenotypic differences. Rather, the HFD-dependent changes were cancer model dependent. These results show that cancer models can have differential effects on metabolic syndrome-associated phenotypes even before cancers arise.

  20. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. (United States)

    Tohyama, Jun; Yamamoto, Toshiyuki; Hosoki, Kana; Nagasaki, Keisuke; Akasaka, Noriyuki; Ohashi, Tsukasa; Kobayashi, Yu; Saitoh, Shinji


    FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization analysis confirmed that the marker chromosome was derived from chromosome 14. A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on chromosome 14 confirmed that the patient had maternal uniparental disomy 14 as well as a mosaic small marker chromosome of paternal origin containing the proximal long arm of chromosome 14. Microarray-based comparative genomic hybridization analysis conclusively defined the region of the gain of genomic copy numbers at 14q11.2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms.

  1. Trisomy 21 syndrome associated interstitial lung disease: a case report%21-三体综合征相关肺间质疾病一例

    Institute of Scientific and Technical Information of China (English)

    陈杰华; 马红玲; 郑跃杰; 曹娟; 曾洪武; 张青


    目的 探讨21-三体综合征相关肺间质疾病的肺组织病理、影像和临床特点.方法 报道1例经影像及病理证实的21-三体综合征相关肺间质疾病,并复习文献总结其肺组织病理、影像及临床特点.结果 该例临床表现为重症肺炎,感染反复;病情稳定期无明显气促、发绀,胸部CT仍表现为磨玻璃样影、区域性肺气肿、肺实质带等肺间质病变征象.胸腔镜可见双肺各叶充气不均,表面呈弥漫性小气泡样改变.病理可见肺泡、肺泡管、肺泡囊扩张,肺泡间隔增宽.复习文献,国内未见报道.国外分别报道7例和24例21-三体综合征病理资料,86% ~ 88%病例可见肺泡生长异常.影像学特征性表现为胸膜下肺囊肿.临床上21-三体综合征高发呼吸道感染并容易加重引起呼吸衰竭;术后可引起持续低氧血症,需长时间呼吸支持.结论 21-三体综合征存在染色体相关的肺泡生长异常,病理表现肺泡简单化,影像表现肺间质疾病,临床应警惕感染、手术导致其呼吸衰竭的风险.%Objective To study the pathology,imaging and clinical features of a child with trisomy 21 syndrome associated interstitial lung disease.Method Data of a case with trisomy 21 syndrome associated interstitial lung disease confirmed by lung imaging and pathology were collected,analyzed and the related reports in literature were reviewed.Result The patient was a one year and 7 months old boy who suffered from severe pneumonia and recurrent infection during his hospital stay.When his disease was stable,he did not have shortness of breath and cyanosis,but a chest computed tomography (CT) showed ground-glass opacity,regional emphysema,band-like change in lung parenchyma,which indicated interstitial lung diseases.Unequal air inflation in bilateral lungs and diffuse overdistension of peripheral air spaces in lung surface were seen through thoracoscope.Pathological examination indicated that alveolar

  2. Anti-radiation vaccine: Immunologically-based Prophylaxis of Acute Toxic Radiation Syndromes Associated with Long-term Space Flight (United States)

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


    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

  3. Increased intestinal absorption in the era of teduglutide and its impact on management strategies in patients with short bowel syndrome-associated intestinal failure. (United States)

    Seidner, Douglas L; Schwartz, Lauren K; Winkler, Marion F; Jeejeebhoy, Khursheed; Boullata, Joseph I; Tappenden, Kelly A


    Short bowel syndrome-associated intestinal failure (SBS-IF) as a consequence of extensive surgical resection of the gastrointestinal (GI) tract results in a chronic reduction in intestinal absorption. The ensuing malabsorption of a conventional diet with associated diarrhea and weight loss results in a dependency on parenteral nutrition and/or intravenous fluids (PN/IV). A natural compensatory process of intestinal adaptation occurs in the years after bowel resection as the body responds to a lack of sufficient functional nutrient-processing intestinal surface area. The adaptive process improves bowel function but is a highly variable process, yielding different levels of symptom control and PN/IV independence among patients. Intestinal rehabilitation is the strategy of maximizing the absorptive capacity of the remnant GI tract. The approaches for achieving this goal have been limited to dietary intervention, antidiarrheal and antisecretory medications, and surgical bowel reconstruction. A targeted pharmacotherapy has now been developed that improves intestinal absorption. Teduglutide is a human recombinant analogue of glucagon-like peptide 2 that promotes the expansion of the intestinal surface area and increases the intestinal absorptive capacity. Enhanced absorption has been shown in clinical trials by a reduction in PN/IV requirements in patients with SBS-IF. This article details the clinical considerations and best-practice recommendations for intestinal rehabilitation, including optimization of fluids, electrolytes, and nutrients; the integration of teduglutide therapy; and approaches to PN/IV weaning.

  4. Prader-Willi Syndrome Association (United States)

    ... Find a Chapter Contact Us International Membership Blog Shopping Bag Shop Members Only Events Find a Chapter ... With our many On The Move Walks and online fundraisers such as eWalk, we have something available ...

  5. Nephrotic Syndrome Associated with Thymoma

    Directory of Open Access Journals (Sweden)

    Sheng-Yen Hsiao


    Full Text Available Thymoma is associated with a wide variety of paraneoplastic syndromes such as myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. Paraneoplastic glomerulonephritis is a rare clinical presentation of malignancy. This condition often goes undetected as it has no specific clinical symptoms and signs. Approximately 2% of thymoma patients have been reported to have paraneoplastic glomerulonephritis, and the nephrotic syndrome has been shown to be a clinical manifestation of the disorder. We report two cases diagnosed to have thymoma and nephrotic syndrome. Renal biopsy showed that one case had focal segmental glomerulosclerosis, whereas the other had minimal change disease. In case 1, the nephrotic syndrome was diagnosed before thymoma was detected, while in case 2, the symptomatic nephrotic syndrome occurred after thymoma treatment. Because parathymic nephropathy often remains undiagnosed and interferes with treatment, the possibility of the nephrotic syndrome should always be considered throughout the course of thymoma management, particularly in patients who also present with anasarca or hypoalbuminemia. A multidisciplinary approach is needed. Besides, it is to be noted that the nephrotic syndrome may be the initial presentation of thymoma.

  6. Alagille Syndrome Associated with Xerophthalmia

    Directory of Open Access Journals (Sweden)

    Elad Moisseiev


    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.

  7. Retroperitoneal liposarcoma associated with small plaque parapsoriasis

    Directory of Open Access Journals (Sweden)

    Polichetti Paolo


    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.

  8. 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


    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.

  9. 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


    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.

  10. Small Orbits

    CERN Document Server

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


    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.

  11. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7

    Directory of Open Access Journals (Sweden)

    Estacion Mark


    Full Text Available Abstract Background Sodium channel NaV1.7 is preferentially expressed within dorsal root ganglia (DRG, trigeminal ganglia and sympathetic ganglion neurons and their fine-diamter axons, where it acts as a threshold channel, amplifying stimuli such as generator potentials in nociceptors. Gain-of-function mutations and variants (single amino acid substitutions of NaV1.7 have been linked to three pain syndromes: Inherited Erythromelalgia (IEM, Paroxysmal Extreme Pain Disorder (PEPD, and Small Fiber Neuropathy (SFN. IEM is characterized clinically by burning pain and redness that is usually focused on the distal extremities, precipitated by mild warmth and relieved by cooling, and is caused by mutations that hyperpolarize activation, slow deactivation, and enhance the channel ramp response. PEPD is characterized by perirectal, periocular or perimandibular pain, often triggered by defecation or lower body stimulation, and is caused by mutations that severely impair fast-inactivation. SFN presents a clinical picture dominated by neuropathic pain and autonomic symptoms; gain-of-function variants have been reported to be present in approximately 30% of patients with biopsy-confirmed idiopathic SFN, and functional testing has shown altered fast-inactivation, slow-inactivation or resurgent current. In this paper we describe three patients who house the NaV1.7/I228M variant. Methods We have used clinical assessment of patients, quantitative sensory testing and skin biopsy to study these patients, including two siblings in one family, in whom genomic screening demonstrated the I228M NaV1.7 variant. Electrophysiology (voltage-clamp and current-clamp was used to test functional effects of the variant channel. Results We report three different clinical presentations of the I228M NaV1.7 variant: presentation with severe facial pain, presentation with distal (feet, hands pain, and presentation with scalp discomfort in three patients housing this NaV1.7 variant

  12. Endogenous formation of 1-methyl-1,2,3,4-tetrahydro-beta-carboline-3- carboxylic acid in man as the possible causative substance of eosinophilia-myalgia syndrome associated with ingestion of L-tryptophan. (United States)

    Adachi, J; Yamamoto, K; Ogawa, Y; Ueno, Y; Mizoi, Y; Tatsuno, Y


    1-Methyl-1,2,3,4-tetrahydro-beta-carboline-3-carboxylic acid (MTCA) is now thought to be a possible causative substance of eosinophilia-myalgia syndrome associated with ingestion of L-tryptophan. In the present study a factor affecting endogenous formation of MTCA in 32 healthy men is studied. Urinary excretions of MTCA and 1,2,3,4-tetrahydro-beta-carboline-3-carboxylic acid (TCCA) were measured by high-performance liquid chromatography (HPLC) with fluorometric detection after administration of a high or low protein diet as well as peroral tryptophan (0.5 g) or ethanol (0.4 g/kg). Blood ethanol and acetaldehyde levels were determined by gas chromatography after ethanol consumption. Both, the high protein diet and tryptophan resulted in a significant rise of urinary TCCA. In contrast, ethanol intake caused increased excretion of MTCA, though a relationship between blood acetaldehyde level and urinary excretion of MTCA was not shown. We showed for the first time that an elevation of urinary excretion of MTCA following ethanol consumption in man without ingestion of L-tryptophan tablets implicated eosinophilia-myalgia syndrome.

  13. Small Business Development Center (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...

  14. 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


    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.

  15. Are Subject Small Clauses Really Small Clauses? (United States)

    Kubo, Miori


    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…

  16. Syndromes Associated with Sexually Transmitted Infections

    Directory of Open Access Journals (Sweden)

    Max Chernesky


    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.

  17. Neuroleptic Malignant Syndrome Associated with Lithium Toxicity

    Directory of Open Access Journals (Sweden)

    Vaibhav Patil


    Full Text Available Neuroleptic Malignant Syndrome (NMS is an idiosyncratic and potentially life-threatening reaction to neuroleptic drugs. Lithium is a first-line mood stabilizer used in the treatment and prophylaxis of bipolar disorder. There are several case reports of lithium-associated NMS, but only when it was given in combination with antipsychotics. Therefore, the possibility of NMS being secondary to the antipsychotics could not be ruled out in those cases. Here we present a case of lithium-induced NMS in a patient who was not being treated concomitantly with any other agent known to cause NMS. The patient, a 74-year-old female with a 30-year history of bipolar affective disorder, was admitted to the emergency room of the All India Institute of Medical Sciences, New Delhi, with history of high fever and generalized weakness for 10 days before the admission. NMS was established based the presence of three cardinal symptoms. She was started on intravenous fluids to correct her sodium levels slowly and requested to follow-up at the psychiatry clinic.

  18. Neuroleptic Malignant Syndrome Associated with Lithium Toxicity (United States)

    Patil, Vaibhav; Gupta, Rishab; Verma, Rohit; Balhara, Yatan Pal Singh


    Neuroleptic Malignant Syndrome (NMS) is an idiosyncratic and potentially life-threatening reaction to neuroleptic drugs. Lithium is a first-line mood stabilizer used in the treatment and prophylaxis of bipolar disorder. There are several case reports of lithium-associated NMS, but only when it was given in combination with antipsychotics. Therefore, the possibility of NMS being secondary to the antipsychotics could not be ruled out in those cases. Here we present a case of lithium-induced NMS in a patient who was not being treated concomitantly with any other agent known to cause NMS. The patient, a 74-year-old female with a 30-year history of bipolar affective disorder, was admitted to the emergency room of the All India Institute of Medical Sciences, New Delhi, with history of high fever and generalized weakness for 10 days before the admission. NMS was established based the presence of three cardinal symptoms. She was started on intravenous fluids to correct her sodium levels slowly and requested to follow-up at the psychiatry clinic. PMID:27403245

  19. Toxic metabolic syndrome associated with HAART

    DEFF Research Database (Denmark)

    Haugaard, Steen B


    (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...... with HAART by describing the key cell and organ systems that are involved, emphasising the role of insulin resistance. An opinion on the remedies available to treat the metabolic abnormalities and phenotype of HALS is provided....

  20. Syndromes Associated with Sexually Transmitted Infections


    Max Chernesky; David Patrick; Rosanna Peeling


    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 ...

  1. A Hypereosinophilic Syndrome Associated with HIV Infection (United States)


    syndrome and may be useful in HIV-associated cases in lieu of the already low levels of interferon - gamma in HIV patients and its negative effect on...response to recombinant interferon gamma . Br Med J 1987; 294: 1185 40. Wells JV, Ibister, Ries CA. Hematologic Diseases In: Stites DP, Sobo JD

  2. Atypical Cogan's syndrome associated with coronary disease

    Institute of Scientific and Technical Information of China (English)

    Ivanovic Branislava; Tadic Marijana; Damjanov Nemanja; Simic Dragan; Zlatanovic Maja


    Cogan's syndrome (CS) is a rare inflammatory disorder characterized by interstitial keratitis and vestibuloauditory abnormalities often associated with various systemic manifestations. Involvement of cardiovascular system resembling systemic vasculitis may lead to severe complications and death. The present report describes a case of a female patient with atypical Cogan's syndrome presented with systemic manifestations and severe coronary and femoral artery stenosis.Despite the clinical improvement after glucocorticoids and cyclophosphamide, the patient required double aortocoronal bypass grafting one year letter. During three years follow-up, she was in stable condition, without stenocardial symptoms and claudication and her inflammatory parameters remain normal. This case highlights the rare involvement of coronary arteries without associated large-vessel vasculitis of the aortic arch in CS.

  3. Parinaud's oculoglandular syndrome associated with Sporothrix schenckii

    Directory of Open Access Journals (Sweden)

    Cassio Porto Ferreira


    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.

  4. Parinaud's oculoglandular syndrome associated with Sporothrix schenckii. (United States)

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


    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.

  5. Goldenhar Syndrome Associated with Extensive Arterial Malformations

    Directory of Open Access Journals (Sweden)

    Renee Frances Modica


    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.

  6. Posterior Reversible Leukoencephalopathy Syndrome Associated with Pazopanib

    Directory of Open Access Journals (Sweden)

    Robert Foerster


    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.

  7. Sneddon syndrome associated with Protein S deficiency

    Directory of Open Access Journals (Sweden)

    Refah Sayin


    Full Text Available Sneddon syndrome (SS is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  8. Mosaic Turner syndrome associated with schizophrenia. (United States)

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


    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.

  9. Sneddon syndrome associated with Protein S deficiency. (United States)

    Sayin, Refah; Bilgili, Serap Gunes; Karadag, Ayse Serap; Tombul, Temel


    Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  10. Cushing syndrome associated with an adrenal tumour. (United States)

    Vieira, Helena; Brain, Caroline


    Cushing syndrome (CS) in children is a rare disorder that is most frequently caused by an adrenal tumour or a pituitary corticotrophin-secreting adenoma. The management is challenging and requires an individualised approach and multidisciplinary care. We present the case of a 23-month-old female child with a history of excessive weight gain, growth failure, hirsutism, acne and behavioural difficulties. Investigations revealed elevated serum midnight cortisol and 24 h urinary free cortisol. Overnight dexamethasone suppression testing showed no suppression of cortisol levels. Abdominal imaging revealed a right-sided suprarenal mass. She underwent right adrenalectomy and the histology showed an adrenal cortical carcinoma. There was clinical improvement with catch-up growth and weight normalisation. Despite being rare in clinical practice, in a child with weight gain, hirsuitism and growth failure the diagnosis must be considered. The overall prognosis of CS in childhood is good, but challenges remain to ensure normal growth and body composition.

  11. Hemolytic uremic syndrome associated with Acinetobacter hemolyticus. (United States)

    da Silva, Paulo Sérgio Lucas; Lipinski, Rubens Wolfe


    Shiga toxin-producing Escherichia coli and Shigella dysenteriae have been associated with bloody diarrhea and hemolytic uremic syndrome (HUS) in humans. However, there have been only a couple of reports describing bloody diarrhea associated with Acinetobacter spp. and there are no reports of these bacteria causing HUS in children. Here, we report the case of a nine-month-old boy with bloody diarrhea who developed non-oliguric renal failure. The clinical and laboratory findings supported the diagnosis of Acinetobacter hemolyticus infection associated with HUS. The patient responded favorably to antibiotic therapy plus conservative treatment. In conclusion, Acinetobacter infection should be considered as a plausible cause of HUS in cases where E. coli infection is not involved. The rapid transformation ability of Acinetobacter is a matter of concern.

  12. Genetic syndromes associated with overgrowth in childhood. (United States)

    Ko, Jung Min


    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.

  13. Psychiatric syndromes associated with atypical chest pain

    Directory of Open Access Journals (Sweden)

    Nikolić Gordana


    Full Text Available Background/Aim. Chest pain often indicates coronary disease, but in 25% of patients there is no evidence of ischemic heart disease using standard diagnostic tests. Beside that, cardiologic examinations are repeated several times for months. If other medical causes could not be found, there is a possibility that chest pain is a symptom of psychiatric disorder. The aim of this study was to determine the presence of psychiatric syndromes, increased somatization, anxiety, stress life events exposure and characteristic of chest pain expression in persons with atypical chest pain and coronary patients, as well as to define predictive parameters for atypical chest pain. Method. We compared 30 patients with atypical chest pain (E group to 30 coronary patients (K group, after cardiological and psychiatric evaluation. We have applied: Mini International Neuropsychiatric Interview (MINI, The Symptom Checklist 90-R (SCL-90 R, Beck Anxiety Inventory (BAI, Holms-Rahe Scale of stress life events (H-R, Questionnaire for pain expression Pain-O-Meter (POM. Significant differences between groups and predictive value of the parameters for atypical chest pain were determined. Results. The E group participants compared to the group K were younger (33.4 ± 5.4 : 48.3 ± 6,4 years, p < 0.001, had a moderate anxiety level (20.4 ± 11.9 : 9.6 ± 3.8, p < 0.001, panic and somatiform disorders were present in the half of the E group, as well as eleveted somatization score (SOM ≥ 63 -50% : 10%, p < 0.01 and a higher H-R score level (102.0 ± 52.2 : 46.5 ± 55.0, p < 0.001. Pain was mild, accompanied with panic. The half of the E group subjects had somatoform and panic disorders. Conclusion. Somatoform and panic disorders are associated with atypical chest pain. Pain expression is mild, accompained with panic. Predictive factors for atypical chest pain are: age under 40, anxiety level > 20, somatization ≥ 63, presence of panic and somatoform disorders, H-R score > 102, and a lack of positive diagnostic test of coronary disease. Defining of these parameters could be useful for early psychiatric evaluation of persons with atypical chest pain.

  14. Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (United States)

    Krishnamurthy, Sriram; Choudhary, Bharat; Rajesh, Nachiappa Ganesh; Ramesh, Ananthakrishnan; Srinivasan, Sadagopan


    An 11-year-old girl with clinical features of Kartagener syndrome presented with signs of acute glomerulonephritis. Blood urea and creatinine were mildly elevated and anti-streptolysin O and C3 levels were normal. Renal biopsy demonstrated mesangial proliferation and direct immunofluorescence showed IgM and C3 deposits. This appears to be the first report of Kartagener syndrome in association with mesangioproliferative glomerulonephritis. The literature is reviewed and the possible mechanisms for this association are discussed.

  15. Clouston syndrome associated with eccrine syringofibroadenoma* (United States)

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


    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

  16. Mosaic Turner syndrome associated with schizophrenia (United States)

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


    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

  17. Hemolytic uremic syndrome associated with paraquat intoxication. (United States)

    Jang, Ha Nee; Bae, Eun Jin; Hwang, Kyungo; Kang, Yeojin; Yun, Seongeun; Cho, Hyun Seop; Chang, Se-Ho; Park, Dong Jun


    We report a case of a 66-year-old patient with paraquat intoxication resulting in the requirement for hemoperfusion, hemodialysis, and plasma exchange. His initial serum paraquat level was 0.24 µg/mL (0.0-0.1 µg/mL). Activated charcoal (50 g) was administered orally, and high-dose N-acetylcysteine (150 mg/kg) was administered intravenously. In addition, immediate 4 h hemoperfusion was also performed for three consecutive days after admission. Hemodialysis was started on the 4th day after admission because of uremia. On the 9th day after admission, laboratory findings demonstrated hemolytic uremic syndrome (HUS): microangiopathic hemolytic anemia (MAHA), thrombocytopenia, elevated reticulocyte count, and lactate dehydrogenase (LDH). Plasma exchange was performed three times consecutively. Anemia and thrombocytopenia were improved, and LDH was normalized after plasma exchange. Urine output increased to 2240 mL/day on the 18th day after admission, and hemodialysis was discontinued. He is currently being observed at our follow-up clinic without renal impairment or pulmonary dysfunction for 1.5 years since discharge. We should suspect paraquat-associated HUS when thrombocytopenia and anemia are maintained for a long time after paraquat intoxication.

  18. Lung cancer - small cell (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 ...

  19. Small Business Size Standards (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...

  20. 伴多中心Castleman病和血小板增多症的POEMS综合征一例%POEMS syndrome associated with multicentre Castleman's disease and thrombocytosis: a case report

    Institute of Scientific and Technical Information of China (English)

    陈旭; 鞠梅; 徐秀莲; 弓娟琴; 林麟; 顾恒


    A rare case of POEMS (polyneuropathy,organomegaly,endocrinopathy,M-band,skin changes) syndrome associated with multicentre Castleman's disease and thrombocytosis is reported in a 48-year-old man.Three years prior to the presentation,he developed a series of symptoms without obvious triggers,including persistent myalgia and myasthenia of extremities,abnormal skin sensation (burning),gradually increased roughness and pigmentation of skin,thickening and mild induration of lower-extremity skin giving an ichthyosiform appearance.Two years prior to the presentation,electromyography indicated peripheral neuropathy,and computed tomography (CT) revealed hepatomegaly,splenomegaly,lymphadenectasis,ascites,hydrotborax and hydropericardium.Multiple biopsies of lymph nodes indicated an obvious vascular proliferation between lymphoid follicles with the involvement of lymphoid follicles,which,together with the histochemical findings and special staining results,was suggestive of hyaline-vascular type Castleman's disease.Three months prior to the presentation,painful erythema emerged and gradually spread in both thighs,with a progressive deepening in the colour of central lesions,and flushing of periphery lesions.Two months prior to the presentation,a soybean-sized nodule arised in the erythema on the right inner thigh,which was then ulcerated with a little pus left and a shallow ulcer formed.Physical examination revealed a mild atrophy of lower-extremity muscles,with muscle strength graded as 5 for bilateral upper extremities and as 4 for bilateral lower extremities.The skin was rough,diffusely pigmented and thickened,giving an ichthyosiform appearance,which was more apparent in the extremities than in the trunk.An atropurpureus patch sized 5 cm × 2 cm was seen respectively in bilateral inner thighs; the surface of the central lesions was coarse and covered with dry crusts and scales,giving a rough paperlike appearance,and the peripheral lesions were surrounded by a faint

  1. Recalcitrant psoriasis vulgaris associated with Laurence-Moon-Biedl syndrome. (United States)

    Margolin, L; Haliulin, Y


    We report a 30-year-old European (Ashkenazi Jewish) male with Laurence-Moon-Biedl syndrome (Bardet-Biedl type) who was hospitalized because of severe recalcitrant plaque-type psoriasis. Laurence-Moon-Biedl syndrome has been shown to be linked to the chromosome 11q region in the majority of the patients of European descent. The same 11q region had increased frequency of aberrations in the study that included cytogenetic analysis of 477 psoriatic patients. The animal model of the syndrome (mice) showed abnormalities in hair growth and epidermal differentiation. This genetic association between Laurence-Moon-Biedl syndrome and psoriasis can contribute to the understanding of the factors involved in the initiation of psoriasis and factors that modulate its severity and resistance to therapy.

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

    DEFF Research Database (Denmark)

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


    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...

  3. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda


    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.

  5. Genetic obesity syndromes. (United States)

    Goldstone, Anthony P; Beales, Philip L


    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.


    Directory of Open Access Journals (Sweden)

    Mihai Răzvan Constantin BARBU


    Full Text Available In this paper we analyzed the branding in small business. Using a desk research on Internet and the press we have identified the practices small businesses use to enhance their brand and the brand dynamics in small business. Our main contribution is that we tried to figure out the strategy of branding in small business. This need further to be investigated in order to understand how branding works in small business and to better capture the role of branding in small business.

  7. 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


    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。

  8. Small Intestine Disorders (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 ...

  9. Síndrome de ativação macrofágica associada com artrite idiopática juvenil sistêmica Macrophage activation syndrome associated with systemic juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Clovis Artur A. Silva


    Full Text Available OBJETIVO: Descrever as características da síndrome de ativação macrofágica associada a artrite idiopática juvenil. DESCRIÇÃO DOS CASOS: Foram analisados retrospectivamente os prontuários de 462 pacientes com artrite idiopática juvenil. Destes, sete (1,5% pacientes desenvolveram síndrome de ativação macrofágica; todos tinham a forma sistêmica da doença. A mediana de idade de início da artrite idiopática juvenil foi de 3 anos e 10 meses, e a mediana do tempo de duração da artrite idiopática juvenil antes da síndrome de ativação macrofágica foi de 8 anos e 4 meses. Todos os pacientes apresentaram febre, icterícia, hepatoesplenomegalia, sangramentos, pancitopenia e elevação das enzimas hepáticas e dos tempos de coagulação e bilirrubina direta. Três casos apresentaram infecções associadas e um caso desenvolveu a síndrome de ativação macrofágica 2 semanas após a introdução de sulfasalazina. Três pacientes morreram. Proliferação macrofágica e hemofagocitose foram evidenciadas em cinco. A terapêutica da síndrome de ativação macrofágica incluiu pulsoterapia com metilprednisolona em todos, ciclosporina em três, plasmaférese em dois e gamaglobulina endovenosa em dois. COMENTÁRIOS: A síndrome de ativação macrofágica é uma complicação da artrite idiopática juvenil sistêmica com alta morbidade e mortalidade.OBJECTIVE: To describe the characteristics of macrophage activation syndrome associated with juvenile idiopathic arthritis. DESCRIPTION: This is a retrospective study involving 462 patients with juvenile idiopathic arthritis. Seven (1.5% of those patients suffered from systemic onset juvenile idiopathic arthritis and developed macrophage activation syndrome. The median age of the juvenile idiopathic arthritis onset was 3 years and 10 months and the median duration of juvenile idiopathic arthritis before macrophage activation syndrome was 8 years and 4 months. All of them presented with fever

  10. Chairing a Small Department. (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…

  11. Increased Contractile Response to Noradrenaline Induced By Factors Associated with the Metabolic Syndrome in Cultured Small Mesenteric Arteries

    DEFF Research Database (Denmark)

    Blædel, Martin; Sams, Anette; Boonen, Harrie C M


    UNLABELLED: This study investigated the effect of the metabolic syndrome associated risk factors hyperglycemia (glucose [Glc]), hyperinsulinemia (insulin [Ins]) and low-grade inflammation (tumor necrosis factor α [TNFα]) on the vasomotor responses of resistance arteries. Isolated small mesenteric...... arteries from 3-month-old Sprague-Dawley rats, were suspended for 21-23 h in tissue cultures containing either elevated Glc (30 mmol/l), Ins (100 nmol/l), TNFα (100 ng/ml) or combinations thereof. After incubation, the vascular response to noradrenaline (NA), phenylephrine, isoprenaline and NA...... in the presence of propranolol (10 µmol/l) was measured by wire myography. RESULTS: Arteries exposed only to combinations of the risk factors showed a significant 1.6-fold increase in the contractile NA sensitivity, which suggests that complex combinations of metabolic risk factors might lead to changes...

  12. Small cell glioblastoma or small cell carcinoma

    DEFF Research Database (Denmark)

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


    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...

  13. Small asteroid system evolution


    Jacobson, Seth A.


    Observations with radar, photometric and direct imaging techniques have discovered that multiple asteroid systems can be divided clearly into a handful of different morphologies, and recently, the discovery of small unbound asteroid systems called asteroid pairs have revolutionized the study of small asteroid systems. Simultaneously, new theoretical advances have demonstrated that solar radiation dictates the evolution of small asteroids with strong implications for asteroid internal structur...

  14. Small business & employment

    NARCIS (Netherlands)

    Lieshout, Harm van


    Understanding SMEs is essential to our aspired succes as an economic partner. Small enterprises are not small big enterprises, and differ substantially among them The key ingredient to our help from education remains the education of a new highly skilled generation of workers … and entrepreneurs.

  15. IBM Small Business Survey. (United States)

    International Business Machines Corp., Armonk, NY.

    A telephone survey conducted March 15-22, 1991, examined how small businesses are currently performing. Interviewees were 400 small business owners randomly selected from a Dun and Bradstreet list of companies with 50 or fewer employees. Major findings were as follows: (1) owners were survivors, highly confident in their own abilities, and…

  16. Small Group Inquiry. (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…

  17. Hume = Small Hume


    Ketland, Jeffrey


    We can modify Hume’s Principle in the same manner that George Boolos suggested for modifying Frege’s Basic Law V. This leads to the principle Small Hume. Then, we can show that Small Hume is interderivable with Hume’s Principle.

  18. Small School Reform

    Directory of Open Access Journals (Sweden)

    Carroll E. Bronson


    Full Text Available This qualitative ethnographic case study explored the evolution of a public urban high school in its 3rd year of small school reform. The study focused on how the high school proceeded from its initial concept, moving to a small school program, and emerging as a new small high school. Data collection included interviews, observations, and document review to develop a case study of one small high school sharing a multiplex building. The first key finding, “Too Many Pieces, Not Enough Glue,” revealed that the school had too many new programs starting at once and they lacked a clear understanding of their concept and vision for their new small school, training on the Montessori philosophies, teaching and learning in small schools, and how to operate within a teacher-cooperative model. The second key finding, “A Continuous Struggle,” revealed that the shared building space presented problems for teachers and students. District policies remain unchanged, resulting in staff and students resorting to activist approaches to get things done. These findings offer small school reform leaders suggestions for developing and sustaining a small school culture and cohesion despite the pressures to revert back to top-down, comprehensive high school norms.

  19. Small Wind Information (Postcard)

    Energy Technology Data Exchange (ETDEWEB)


    The U.S. Department of Energy's Wind Powering America initiative maintains a website section devoted to information about small wind turbines for homeowners, ranchers, and small businesses. This postcard is a marketing piece that stakeholders can provide to interested parties; it will guide them to this online resource.

  20. Small Schools, Big Future (United States)

    Halsey, R. John


    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…

  1. Small Animal Care. (United States)

    Livesey, Dennis W.; Fong, Stephen

    This small animal care course guide is designed for students who will be seeking employment in veterinary hospitals, kennels, grooming shops, pet shops, and small-animal laboratories. The guide begins with an introductory section that gives the educational philosophy of the course, job categories and opportunities, units of instruction required…

  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...... with the rapidly evolving positioning techniques, a new category of position-dependent, map-based services to be introduced. The report consists of the following parts: Part I: Categorization of handheld devices, Part II: Cartographic design for small-display devices, Part III: Study on the GiMoDig Client ? Portal...... Appendix E consisting of confidential material and Appendix F with examples.   The work has resulted in a small device categorisation, a cartographic design specification for a small-display device for a specified navigation task as well as a comparison between OpenLS and an in house developed protocol...

  3. Small GTPases and cilia. (United States)

    Li, Yujie; Hu, Jinghua


    Small GTPases are key molecular switches that bind and hydrolyze GTP in diverse membrane- and cytoskeleton-related cellular processes. Recently, mounting evidences have highlighted the role of various small GTPases, including the members in Arf/Arl, Rab, and Ran subfamilies, in cilia formation and function. Once overlooked as an evolutionary vestige, the primary cilium has attracted more and more attention in last decade because of its role in sensing various extracellular signals and the association between cilia dysfunction and a wide spectrum of human diseases, now called ciliopathies. Here we review recent advances about the function of small GTPases in the context of cilia, and the correlation between the functional impairment of small GTPases and ciliopathies. Understanding of these cellular processes is of fundamental importance for broadening our view of cilia development and function in normal and pathological states and for providing valuable insights into the role of various small GTPases in disease processes, and their potential as therapeutic targets.

  4. SmallSat Database (United States)

    Petropulos, Dolores; Bittner, David; Murawski, Robert; Golden, Bert


    The SmallSat has an unrealized potential in both the private industry and in the federal government. Currently over 70 companies, 50 universities and 17 governmental agencies are involved in SmallSat research and development. In 1994, the U.S. Army Missile and Defense mapped the moon using smallSat imagery. Since then Smart Phones have introduced this imagery to the people of the world as diverse industries watched this trend. The deployment cost of smallSats is also greatly reduced compared to traditional satellites due to the fact that multiple units can be deployed in a single mission. Imaging payloads have become more sophisticated, smaller and lighter. In addition, the growth of small technology obtained from private industries has led to the more widespread use of smallSats. This includes greater revisit rates in imagery, significantly lower costs, the ability to update technology more frequently and the ability to decrease vulnerability of enemy attacks. The popularity of smallSats show a changing mentality in this fast paced world of tomorrow. What impact has this created on the NASA communication networks now and in future years? In this project, we are developing the SmallSat Relational Database which can support a simulation of smallSats within the NASA SCaN Compatability Environment for Networks and Integrated Communications (SCENIC) Modeling and Simulation Lab. The NASA Space Communications and Networks (SCaN) Program can use this modeling to project required network support needs in the next 10 to 15 years. The SmallSat Rational Database could model smallSats just as the other SCaN databases model the more traditional larger satellites, with a few exceptions. One being that the smallSat Database is designed to be built-to-order. The SmallSat database holds various hardware configurations that can be used to model a smallSat. It will require significant effort to develop as the research material can only be populated by hand to obtain the unique data

  5. Small Vehicle Launch Platform (United States)


    the art will appreciate that release 21 mechanisms 41 can be a spring-loaded release pin with a lanyard 22 pull initiated by an actuator mechanism explosive squib 23 which breaks the attachment latching on the small UUV. Whatever 1 release mechanism is used, it is controlled by the host...carries four small 1 UUV’s, it will be understood that, depending on the size of the 3 small UUV’s employed, greater or fewer numbers of UUV’s can be 4

  6. Small scale optics

    CERN Document Server

    Yupapin, Preecha


    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

  7. Small intestine (image) (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 ...

  8. Small bowel bacterial overgrowth (United States)

    ... scleroderma . Immunodeficiency such as AIDS or immunoglobulin deficiency. Short bowel syndrome caused by surgical removal of the small intestine. ... obstruction Irritable bowel syndrome Liver disease Osteoporosis - overview Short bowel syndrome Toxic megacolon Vagina Review Date 5/11/2016 ...

  9. Small Mammal Trapping 2003 (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...

  10. Small Intestine Cancer Treatment (United States)

    ... intestine . The digestive system removes and processes nutrients ( vitamins , minerals , carbohydrates , fats, proteins , and water) from foods ... a microscope to see whether they contain cancer. Bypass : Surgery to allow food in the small intestine ...

  11. Small Satellite Transporter Project (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...

  12. Small business & employment


    Lieshout, Harm van


    Understanding SMEs is essential to our aspired succes as an economic partner. Small enterprises are not small big enterprises, and differ substantially among them The key ingredient to our help from education remains the education of a new highly skilled generation of workers … and entrepreneurs. Entrepreneurs do not necessarily want to be employers, and are not necessarily good at it. But to ensure a healthy life in a healthy business, they need to be.

  13. Small test SDHW systems

    DEFF Research Database (Denmark)

    Vejen, Niels Kristian


    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....

  14. Small-x physics

    Energy Technology Data Exchange (ETDEWEB)

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


    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.


    Institute of Scientific and Technical Information of China (English)

    D. Ditschke; O. Gothel; H. Weilbeer


    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.

  16. Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient. (United States)

    Liehr, T; Mrasek, K; Starke, H; Claussen, U; Schreiber, G


    Small supernumerary marker chromosomes (sSMC) are small additional chromosomes characterizable for their origin only by molecular cytogenetic approaches. sSMC have been reported previously in four types of syndromes associated with chromosomal imbalances: in approximately 150 cases with Turner syndrome, 26 cases with Down syndrome and only one case each with Klinefelter syndrome and "Triple-X"-syndrome. Here we report the second case with an sSMC detected in addition to a Klinefelter karyotype. Molecular cytogenetics applying centromere-specific multicolor FISH (cenM-FISH) and a specific subcentromere-specific (subcenM-FISH) probe set characterized the sSMC as a dic(9)(:p12-->q11.1::q11.1--> p11.1:). The reported patient was described with hypogonadism, gynaecomastia plus a bronchial carcinoma. The patient's clinical features are discussed in connection with other Klinefelter cases and possible consequences of presence of the sSMC(9). Furthermore, a suggestion is made for the mode of sSMC-formation in this case.

  17. How Small are Small Stars Really? (United States)


    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

  18. MINERVA: Small Planets from Small Telescopes (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


    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.

  19. Small Island Visitor Attractions

    Directory of Open Access Journals (Sweden)

    Haven Allahar


    Full Text Available This article proposes a process framework for developing and managing visitor attractions (VA in small island developing states with Trinidad and Tobago, a two-island state in the Caribbean, as the case study. An extensive literature review was conducted, supported by field observations, individual depth interviews, and small and large focus group meetings. The process framework identified four sets of processes: national policy formulation and legislation; inventory, classification, evaluation, and ranking of VA; general operations management involving project management activities; and site specific activities of development, operations, and maintenance. The value of the framework lies in the fact that no similar framework applicable to small islands was covered in the literature and validation was obtained from a panel of experts and a cross section of tourism stakeholders in Tobago.

  20. Small-Gap Flows (United States)


    34’OF CALIFORNIA# BERKELEY, CA 5.1720 ft (45 642-141 SMALL- GAP FLOWS BY E. 0. TUCK REPORT No. NAUE 84-1 CONTRACT N00014-84-K-OU26 APRIL i984...Mechanics, 41 (1970) 769-792. 11 3. Shallow-Water Waves at Discontinuities Shallow-water waves represent perhaps the prototype small- gap flow , the...solving (4.4) we need "initial" conditions at the starting station z = 0, and "exit" conditions at the station z = L where the gap flow merges with the

  1. Small hydroelectric engineering practice

    CERN Document Server

    Leyland, Bryan


    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

  2. Deburring small intersecting holes

    Energy Technology Data Exchange (ETDEWEB)

    Gillespie, L.K.


    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.

  3. Extrapulmonary small cell carcinoma.

    NARCIS (Netherlands)

    Heijden, E. van der; Heijdra, Y.F.


    This article reviews the recent literature on extrapulmonary small cell carcinomas. Until now, only four cases have been published in the English literature, two of those in the Southern Medical Journal. Sharing the information on diagnosis and treatment of these cases is important for better unders

  4. Small public private partnerships

    DEFF Research Database (Denmark)

    Koch, Christian; Jensen, Jesper Ole


    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...

  5. Small Public Library Management (United States)

    Pearlmutter, Jane; Nelson, Paul


    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…

  6. Small and Magical

    Institute of Scientific and Technical Information of China (English)


    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.

  7. Light within small particles

    Energy Technology Data Exchange (ETDEWEB)

    Iati, Maria Antonia [Dipartimento di Fisica della Materia e Tecnologie Fisiche Avanzate, Universita di Messina, Salita Sperone, 31 - 98166 Messina (Italy)]. E-mail:; Saija, Rosalba [Dipartimento di Fisica della Materia e Tecnologie Fisiche Avanzate, Universita di Messina, Salita Sperone, 31 - 98166 Messina (Italy); Giusto, Arianna [Dipartimento di Fisica, Politecnico di Milano, Piazza Leonardo da Vinci 32, 20133 Milano (Italy); Denti, Paolo [Dipartimento di Fisica della Materia e Tecnologie Fisiche Avanzate, Universita di Messina, Salita Sperone, 31 - 98166 Messina (Italy); Borghese, Ferdinando [Dipartimento di Fisica della Materia e Tecnologie Fisiche Avanzate, Universita di Messina, Salita Sperone, 31 - 98166 Messina (Italy); Cecchi-Pestellini, Cesare [Osservatorio Astronomico di Cagliari, Strada n.54, Loc. Poggio dei Pini, 09012 Capoterra (CA) (Italy)


    We calculate the energy density distribution in the ultraviolet within small spheres containing concentric cavities, aimed at simulating interstellar dust grains. We explore the dependence on chemical composition by progressively changing, in an arbitrary way, the refractive index of the sphere material. We conclude that a significant fraction of the energy of the impinging radiation is trapped throughout the particle interior.

  8. Imaging the small bowel.

    LENUS (Irish Health Repository)

    Murphy, Kevin P


    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.

  9. Small holding circles

    CERN Document Server

    Fruchard, Augustin


    A circle C holds a convex body K if C does not meet the interior of K and if there does not exist any euclidean displacement which moves C as far as desired from K, avoiding the interior of K. The purpose of this note is to explore how small can be a holding circle.

  10. Small Bowel Lymphangioma

    Directory of Open Access Journals (Sweden)

    Shou-jiang Tang


    Conclusions: Small bowel lymphangiomas can cause gross or occult GI bleeding, anemia, abdominal pain, and/or obstruction. Endoscopists should be aware of this rare tumor and its unique endoscopic features. The optimal treatment is radical excision, since incomplete resection may lead to recurrence. Argon plasma coagulation or polypectomy have been used to achieve endoscopic ablation and palliation of GI bleeding.

  11. 78 FR 11745 - Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small... (United States)


    ... / Wednesday, February 20, 2013 / Rules and Regulations#0;#0; ] SMALL BUSINESS ADMINISTRATION 13 CFR Part 121 RIN 3245-AG46 Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small Business Technology Transfer (STTR) Program; Correction AGENCY: U.S. Small Business...

  12. Small Multiples with Gaps. (United States)

    Meulemans, Wouter; Dykes, Jason; Slingsby, Aidan; Turkay, Cagatay; Wood, Jo


    Small multiples enable comparison by providing different views of a single data set in a dense and aligned manner. A common frame defines each view, which varies based upon values of a conditioning variable. An increasingly popular use of this technique is to project two-dimensional locations into a gridded space (e.g. grid maps), using the underlying distribution both as the conditioning variable and to determine the grid layout. Using whitespace in this layout has the potential to carry information, especially in a geographic context. Yet, the effects of doing so on the spatial properties of the original units are not understood. We explore the design space offered by such small multiples with gaps. We do so by constructing a comprehensive suite of metrics that capture properties of the layout used to arrange the small multiples for comparison (e.g. compactness and alignment) and the preservation of the original data (e.g. distance, topology and shape). We study these metrics in geographic data sets with varying properties and numbers of gaps. We use simulated annealing to optimize for each metric and measure the effects on the others. To explore these effects systematically, we take a new approach, developing a system to visualize this design space using a set of interactive matrices. We find that adding small amounts of whitespace to small multiple arrays improves some of the characteristics of 2D layouts, such as shape, distance and direction. This comes at the cost of other metrics, such as the retention of topology. Effects vary according to the input maps, with degree of variation in size of input regions found to be a factor. Optima exist for particular metrics in many cases, but at different amounts of whitespace for different maps. We suggest multiple metrics be used in optimized layouts, finding topology to be a primary factor in existing manually-crafted solutions, followed by a trade-off between shape and displacement. But the rich range of possible

  13. Small Engine & Accessory Test Area (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...

  14. Aerodynamics of Small Vehicles (United States)

    Mueller, Thomas J.

    In this review we describe the aerodynamic problems that must be addressed in order to design a successful small aerial vehicle. The effects of Reynolds number and aspect ratio (AR) on the design and performance of fixed-wing vehicles are described. The boundary-layer behavior on airfoils is especially important in the design of vehicles in this flight regime. The results of a number of experimental boundary-layer studies, including the influence of laminar separation bubbles, are discussed. Several examples of small unmanned aerial vehicles (UAVs) in this regime are described. Also, a brief survey of analytical models for oscillating and flapping-wing propulsion is presented. These range from the earliest examples where quasi-steady, attached flow is assumed, to those that account for the unsteady shed vortex wake as well as flow separation and aeroelastic behavior of a flapping wing. Experiments that complemented the analysis and led to the design of a successful ornithopter are also described.

  15. Small Generation Gap

    Institute of Scientific and Technical Information of China (English)



    IT was while I was making milk for my son that I discovered the generation gap between us. A little thing of two years and three months, my son stood on a big chair I brought him and joined me to make milk. Holding a small spoon in his plump little hand, he scooped flour out of a jar and poured it into the feeding bottle and then scooped milk powder and

  16. Small and Magical

    Institute of Scientific and Technical Information of China (English)



    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.

  17. Plant Mobile Small RNAs


    Dunoyer, Patrice; Melnyk, Charles; Molnar, Attila; Slotkin, R Keith


    In plants, RNA silencing is a fundamental regulator of gene expression, heterochromatin formation, suppression of transposable elements, and defense against viruses. The sequence specificity of these processes relies on small noncoding RNA (sRNA) molecules. Although the spreading of RNA silencing across the plant has been recognized for nearly two decades, only recently have sRNAs been formally demonstrated as the mobile silencing signals. Here, we discuss the various types of mobile sRNA mol...

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

    Energy Technology Data Exchange (ETDEWEB)

    Osborne, John


    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)





    Development of small injection moulding machine for forming small plastic articles in small-scale industries was studied. This work which entailed design, construction and test small injection moulding machine that was capable of forming small plastic articles by injecting molten resins into a closed, cooled mould, where it solidifies to give the desired products was developed. The machine was designed and constructed to work as a prototype for producing very small plastic components. Design ...

  20. 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 ...

  1. The small library manager's handbook

    CERN Document Server

    Graves, Alice


    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.

  2. Small Unit Operations (United States)


    best demonstrated value for small (< AA size) lithium - thionyl - chloride batteries (Halpert 1993). Equation (2-3) shows that the solar power...However, this energy den- sity this is only ~ 3 times larger than the demonstrated performance of the best lithium batteries , and the fuel cells are...Units 13 2.2.2 ASIC Capability 15 2.2.3 Power and Size 17 2.2.4 Cost 19 2.3 Power Sources 20 2.3.1 Batteries 21 2.3.2 Solar Augmentation

  3. SmallSat Lab (United States)


    CubeSat. Mr. Alvarez worked with four students on the PCB layout for the solar panels and the construction of the 6U CubeSat mockup . Support for Mr...Hull and Mr. Alvarez was $49k including fringe benefits. !! Purchases: During this time period a license for MatLab software and the Princeton...Satellite ToolBox was purchased using funds from this award. This software adds tremendous capability to the SmallSat Lab by enabling students to analyze

  4. Small changes for works

    Institute of Scientific and Technical Information of China (English)

    Jiarui Wu


    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.

  5. Plant Mobile Small RNAs (United States)

    Dunoyer, Patrice; Melnyk, Charles; Molnar, Attila; Slotkin, R. Keith


    In plants, RNA silencing is a fundamental regulator of gene expression, heterochromatin formation, suppression of transposable elements, and defense against viruses. The sequence specificity of these processes relies on small noncoding RNA (sRNA) molecules. Although the spreading of RNA silencing across the plant has been recognized for nearly two decades, only recently have sRNAs been formally demonstrated as the mobile silencing signals. Here, we discuss the various types of mobile sRNA molecules, their short- and long-range movement, and their function in recipient cells. PMID:23818501

  6. Rolling at small scales

    DEFF Research Database (Denmark)

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


    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....... Metals are known to be stronger when large strain gradients appear over a few microns; hence, the forces involved in the rolling process are expected to increase relatively at these smaller scales. In the present numerical analysis, a steady-state modeling technique that enables convergence without...... dealing with the transient response period is employed. This allows for a comprehensive parameter study. Coulomb friction, including a stick-slip condition, is used as a first approximation. It is found that length scale effects increase both the forces applied to the roll, the roll torque, and thus...

  7. Small Wind Energy Systems

    DEFF Research Database (Denmark)

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


    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...

  8. Small intestinal transplantation.

    LENUS (Irish Health Repository)

    Quigley, E M


    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.

  9. Problems of Small Debris

    Directory of Open Access Journals (Sweden)

    V. V. Zelentsov


    Full Text Available During the exploration of outer space (as of 1/1 2011 6853 was launched spacecraft (SC are successful 6264, representing 95% of the total number of starts. The most intensively exploited space Russia (USSR (3701 starts, 94% successful, USA (2774 starts, 90% successful, China (234 starts, 96% successful and India (89 starts, 90% successful. A small part of running the spacecraft returned to Earth (manned spacecraft and transport, and the rest remained in orbit. Some of them are descended from orbit and burned up in the atmosphere, the rest remained in the OCP and turned into space debris (SD.The composition of the Cabinet is diverse: finish the job spacecraft; boosters and the last stage of launch vehicles left in orbit after SC injection; technological waste arising during the opening drop-down structures and fragments of the destroyed spacecraft. The resulting explosion orbital SD forms ellipsoidal region which orbits blasted object. Then, as a result of precession, is the distribution of objects in orbit explosion exploding spacecraft.The whole Cabinet is divided into two factions: the observed (larger than 100 mm and not observed (less than 100 mm. Observed debris katalogalizirovan and 0.2% of the total number of SD, there was no SD is the bulk - 99.8%.SC meeting working with a fragment observed SD predictable and due to changes in altitude spacecraft avoids a possible meeting. Contact spacecraft with large fragment lead to disaster (which took place at a meeting of the Russian communications satellite "Cosmos-2251" and the American machine "Iridium". Meeting with small SD is not predictable, especially if it was formed by an explosion or collision fragments together. Orbit that KM is not predictable, and the speed can be up to 10 km / s. Meeting with small particle SD no less dangerous for the spacecraft. The impact speed of spacecraft with space debris particles can reach up to 10 ... 15 km / s at such speeds the breakdown probability thin

  10. False-Positive Results in a Recombinant Severe Acute Respiratory Syndrome-Associated Coronavirus (SARS-CoV) Nucleocapsid-Based Western Blot Assay Were Rectified by the Use of Two Subunits (S1 and S2) of Spike for Detection of Antibody to SARS-CoV (United States)

    Maache, Mimoun; Komurian-Pradel, Florence; Rajoharison, Alain; Perret, Magali; Berland, Jean-Luc; Pouzol, Stéphane; Bagnaud, Audrey; Duverger, Blandine; Xu, Jianguo; Osuna, Antonio; Paranhos-Baccalà, Glaucia


    To evaluate the reactivity of the recombinant proteins expressed in Escherichia coli strain BL21(DE3), a Western blot assay was performed by using a panel of 78 serum samples obtained, respectively, from convalescent-phase patients infected with severe acute respiratory syndrome-associated coronavirus (SARS-CoV) (30 samples) and from healthy donors (48 samples). As antigen for detection of SARS-CoV, the nucleocapsid protein (N) showed high sensitivity and strong reactivity with all samples from SARS-CoV patients and cross-reacted with all serum samples from healthy subjects, with either those obtained from China (10 samples) or those obtained from France (38 serum samples), giving then a significant rate of false positives. Specifically, our data indicated that the two subunits, S1 (residues 14 to 760) and S2 (residues 761 to 1190), resulted from the divided spike reacted with all samples from SARS-CoV patients and without any cross-reactivity with any of the healthy serum samples. Consequently, these data revealed the nonspecific nature of N protein in serodiagnosis of SARS-CoV compared with the S1 and S2, where the specificity is of 100%. Moreover, the reported results indicated that the use of one single protein as a detection antigen of SARS-CoV infection may lead to false-positive diagnosis. These may be rectified by using more than one protein for the serodiagnosis of SARS-CoV. PMID:16522785

  11. Small rover exploration capabilities (United States)

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


    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).

  12. Small particle heat exchangers

    Energy Technology Data Exchange (ETDEWEB)

    Hunt, A.J.


    A dispersion of small absorbing particles forms an ideal system to collect radiant energy, transform it to heat, and efficiently transfer the heat to a surrounding fluid. If the heated fluid is a pressurized gas, it can be passed through an expansion turbine to create useful mechanical energy. The most obvious application of this technique is its use in a solar collection system. In this case, the incoming sunlight is used to heat a compressed gas in an engine utilizing a Brayton cycle. The solar collection system may utilize high concentration as provided by a central receiver or parabolic dish, medium concentration from a linear collector, or possibly no concentration using a flat plate collector, if precautions were taken to reduce the heat losses. The same concept may be applied generally to non-solar heat exchangers. These may be of the type used to heat a gas from a combustion source, or in general as a gas to gas heat exchanger. The latter application may be limited to rather high temperature. Each of the above applications is discussed. First, a description of the concept is applied to a solar central-tower system. The general principles are described, including the optical and physical characteristics of the particles, the confinement of the gas-particle mixture, and the system considerations; the latter include the amount and type of particles, the receiver efficiency and the generation of the particles. The same considerations are reviewed for applications to linear trough and flat plate receivers. Finally, the use of small particles in non-solar heat exchangers is considered.

  13. Small intestine aspirate and culture (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 ...

  14. Small Area Fair Market Rent (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...

  15. Small Business's Big Training Needs. (United States)

    Kelly, Leslie


    Discusses the training needs of small businesses in light of their high failure rate (50 percent). Includes characteristics of successful small businesses, potential training needs, training methods, and topics for seminars. (JOW)

  16. Small intestine contrast injection (image) (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.

  17. Globalization, Entrepreneurship and Small Business


    Stan ªtefania Anca


    New product innovation often comes from small business. Most the radical inventions of the last century, such as the computer, come from small companies, not large ones. And this will not change. Globalization will continue to modify and mold the environment or small business and entrepreneurship. The competition from abroad places strong pressure on small business in terms of efficiency, price, quality, cost, control, marketing, expertise, customer satisfaction and innovativeness. Globalizat...

  18. Quality and the Small School. (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…

  19. Modified Small Business Network Security

    Directory of Open Access Journals (Sweden)

    Md. Belayet Ali


    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.

  20. Small Stirling Cycle Convertors (United States)

    Penswick, L. Barry; Schreiber, Jeffery


    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.

  1. Small Hydropower in Nigeria

    Institute of Scientific and Technical Information of China (English)



    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.

  2. Small scale sanitation technologies. (United States)

    Green, W; Ho, G


    Small scale systems can improve the sustainability of sanitation systems as they more easily close the water and nutrient loops. They also provide alternate solutions to centrally managed large scale infrastructures. Appropriate sanitation provision can improve the lives of people with inadequate sanitation through health benefits, reuse products as well as reduce ecological impacts. In the literature there seems to be no compilation of a wide range of available onsite sanitation systems around the world that encompasses black and greywater treatment plus stand-alone dry and urine separation toilet systems. Seventy technologies have been identified and classified according to the different waste source streams. Sub-classification based on major treatment methods included aerobic digestion, composting and vermicomposting, anaerobic digestion, sand/soil/peat filtration and constructed wetlands. Potential users or suppliers of sanitation systems can choose from wide range of technologies available and examine the different treatment principles used in the technologies. Sanitation systems need to be selected according to the local social, economic and environmental conditions and should aim to be sustainable.

  3. 48 CFR 970.1907 - Subcontracting with Small Business, Small Disadvantaged Business and Woman-Owned Small Business... (United States)


    ... Business, Small Disadvantaged Business and Woman-Owned Small Business Concerns. 970.1907 Section 970.1907... 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...

  4. Small Thermophotovoltaic Prototype Systems (United States)

    Durisch, Wilhelm; Bitnar, Bernd; von Roth, Fritz; Palfinger, Günther


    In an earlier paper [1], we reported on a small grid-connected thermophotovoltaic (TPV) system consisting of an ytterbia mantle emitter and silicon solar cells with 16 % efficiency (under solar irradiance at Standard Test Conditions, STC). The emitter was heated up using a butane burner with a rated thermal power of 1.35 kW (referring to the lower heating value). This system produced an electrical output of 15 W, which corresponds to a thermal to electric (direct current) conversion efficiency of 1.1 %. In the interim, further progress has been made, and significantly higher efficiencies have been achieved. The most important development steps are: 1) The infrared radiation-absorbing water filter between emitter and silicon cells (to protect the cells against overheating and against contact with flue gasses) has been replaced by a suitable glass tube. By doing this, it has been possible to prevent losses of convertible radiation in water. 2) Cell cooling has been significantly improved, in order to reduce cell temperature, and therefore increase conversion efficiency. 3) The shape of the emitter has been changed from spherical to a quasi-cylindrical geometry, in order to obtain a more homogeneous irradiation of the cells. 4) The metallic burner tube, on which the ytterbia emitter was fixed in the initial prototypes, has been replaced by a heat-resistant metallic rod, carrying ceramic discs as emitter holders. This has prevented the oxidation and clogging of the perforated burner tube. 5) Larger reflectors have been used to reduce losses in useful infrared radiation. 6) Smaller cells have been used, to reduce electrical series resistance losses. Applying all these improvements to the basic 1.35 kW prototype, we attained a system efficiency of 1.5 %. By using preheated air for combustion (at approximately 370 °C), 1.8 % was achieved. In a subsequent step, a photocell generator was constructed, consisting of high-efficiency silicon cells (21% STC efficiency). In this

  5. Small diameter carbon nanopipettes (United States)

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


    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.

  6. Small angle neutron scattering

    Directory of Open Access Journals (Sweden)

    Cousin Fabrice


    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

  7. Small 'l' leadership. (United States)

    Parsons, Jenni


    Recently I attended the RACGP Leadership Masterclass in Sydney. When I enrolled, I thought, 'Yes... sounds interesting...good speakers... I need to learn something about leadership...'As the time drew closer I started to get a bit anxious about the whole thing. I realised that the title, 'Masterclass', probably implied that the attendees were expected to already know something about leadership and its theories, if not have considerable expertise and experience in leadership. I also wondered how the workshop sessions were going to go and I started to feel a bit sorry for the facilitators. Imagine trying to facilitate a group of 10 aspiring leaders... a bit like trying to herd cats. A few days later I received a call from the organisers,saying they were a bit short of facilitators and could I help out if necessary. Great... better do a crash course in cat herding! Then there was the first 'predisposing activity'. Step 1: think of leaders you admire. Easy enough. Leaders of social justice and social change on a world stage, people who have shown great courage of their convictions and great orators popped into my head... Ghandi, Martin Luther King, Mandela, JFK. Step 2:describe the ways in which you are like these leaders. Whoa!Never going to measure up here. I wondered if there was going to be sessions on 'leadership for introverts', or 'leadership of small things', or 'leaders without grand vision or fabulous oratory skills', or perhaps 'leadership for people who are deeply suspicious of the corrupting influence of power'.

  8. Small Mercury Relativity Orbiter (United States)

    Bender, Peter L.; Vincent, Mark A.


    The accuracy of solar system tests of gravitational theory could be very much improved by range and Doppler measurements to a Small Mercury Relativity Orbiter. A nearly circular orbit at roughly 2400 km altitude is assumed in order to minimize problems with orbit determination and thermal radiation from the surface. The spacecraft is spin-stabilized and has a 30 cm diameter de-spun antenna. With K-band and X-band ranging systems using a 50 MHz offset sidetone at K-band, a range accuracy of 3 cm appears to be realistically achievable. The estimated spacecraft mass is 50 kg. A consider-covariance analysis was performed to determine how well the Earth-Mercury distance as a function of time could be determined with such a Relativity Orbiter. The minimum data set is assumed to be 40 independent 8-hour arcs of tracking data at selected times during a two year period. The gravity field of Mercury up through degree and order 10 is solved for, along with the initial conditions for each arc and the Earth-Mercury distance at the center of each arc. The considered parameters include the gravity field parameters of degree 11 and 12 plus the tracking station coordinates, the tropospheric delay, and two parameters in a crude radiation pressure model. The conclusion is that the Earth-Mercury distance can be determined to 6 cm accuracy or better. From a modified worst-case analysis, this would lead to roughly 2 orders of magnitude improvement in the knowledge of the precession of perihelion, the relativistic time delay, and the possible change in the gravitational constant with time.

  9. 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


    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.

  10. 77 FR 30227 - Small Business Size Regulations, Small Business Innovation Research (SBIR) Program and Small... (United States)


    ... (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...

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

    Directory of Open Access Journals (Sweden)

    Hamdi Ebdewi


    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.

  12. Jupiter small satellite montage (United States)


    A montage of images of the small inner moons of Jupiter from the camera onboard NASA's Galileo spacecraft shows the best views obtained of these moons during Galileo's 11th orbit around the giant planet in November 1997. At that point, Galileo was completing its first two years in Jupiter orbit--known as the Galileo 'prime mission'--and was about to embark on a successful two-year extension, called the Galileo Europa Mission. The top two images show the moon Thebe. Thebe rotates by approximately 50 degrees between the time these two images were taken, so that the same prominent impact crater is seen in both views; this crater, which has been given the provisional name Zethus, is near the point on Thebe that faces permanently away from Jupiter. The next two images show the moon Amalthea; they were taken with the Sun directly behind the observer, an alignment that emphasizes patterns of intrinsically bright or dark surface material. The third image from the top is a view of Amalthea's leading side, the side of the moon that 'leads' as Amalthea moves in its orbit around Jupiter. This image looks 'noisy' because it was obtained serendipitously during an observation of the Jovian satellite Io (Amalthea and Io shared the same camera frame but the image was exposed for bright Io rather than for the much darker Amalthea). The fourth image from the top emphasizes prominent 'spots' of relatively bright material that are located near the point on Amalthea that faces permanently away from Jupiter. The bottom image is a view of the tiny moon Metis. In all the images, north is approximately up, and the moons are shown in their correct relative sizes. The images are, from top to bottom: Thebe taken on November 7, 1997 at a range of 504,000 kilometers (about 313,000 miles); Thebe on November 7, 1997 at a range of 548,000 kilometers (about 340,000 miles); Amalthea on November 6, 1997 at a range of about 650,000 kilometers (about 404,000 miles); Amalthea on November 7, 1997 at a

  13. 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)



    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

  14. 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


    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.

  15. 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)


    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.

  16. Investigation on a Small Oscillogram

    Institute of Scientific and Technical Information of China (English)


    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.

  17. Visual hallucinations (Charles Bonnet syndrome) associated with neurosarcoidosis. (United States)

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


    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.

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

    Directory of Open Access Journals (Sweden)

    Nalini A


    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.

  19. Metabolic syndrome associated to non-inflammatory Achilles enthesopathy. (United States)

    Abate, Michele; Di Carlo, Luigi; Salini, Vincenzo; Schiavone, Cosima


    Enthesopathies are frequently found in rheumatic inflammatory diseases, but can be observed also in absence of systemic inflammation. Aging, overuse, and microtraumas can be responsible for enthesis-degenerative phenomena. Despite that Achilles enthesis is the more frequently affected, no systematic study on the risk factors associated to this enthesopathy has been yet performed. The aim of this paper was to assess whether the metabolic syndrome could be associated to entheseal lesions. Forty-five subjects with symptomatic non-inflammatory Achilles enthesopathy were compared to 45 asymptomatic controls. An ultrasound study of the Achilles enthesis was carried out, and the presence/absence of lesions (morphologic abnormalities, calcific deposits, enthesophytes, cortical abnormalities, and adjacent bursitis) was assessed. On the basis of history, comorbidities (osteoarthritis, diabetes, and hypertension) were recorded. In each subject, body mass index (BMI), glucose, total, and HDL cholesterol were also evaluated. All symptomatic subjects showed at ultrasound evaluation at least one structural entheseal alteration; pathologic features in asymptomatic subjects were found in 6/45 (13.3 %) of cases. Higher values of BMI and glucose were found in subjects with symptomatic enthesopathy. At multiple logistic regression analysis, the presence of high values of BMI and glucose was related to a higher probability to detect entheseal lesions. Metabolic syndrome and overweight may have a role in the pathogenesis of Achilles enthesopathy due to their synergistic worsening effect on other pathogenetic factors of tendon degeneration, such age and overuse. Therefore, subjects with metabolic syndrome practicing sports and other activities stressing the Achilles tendon should receive advice for more frequent controls.

  20. Hemorrhagic Fever with Renal Syndrome Associated with Acute Pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Edmond Puca; Arben Pilaca; Pellumb Pipero; Dhimiter Kraja; Entela Y Puca


    Hemorrhagic fever with renal syndrome (HFRS) is a systemic infectious disease caused by Hantaviruses and characterized by fevers,bleeding tendencies,gastrointestinal symptoms and renal failure.It encompasses a broad spectrum of clinical presentations,ranging from unapparent or mild illnesses to fulminant hemorrhagic processes.Among the various complications of HFRS,acute pancreatitis is a rare find.In this report,based on clinical data,laboratory and radiologic examination findings,we describe a clinical case,with HFRS from Dobrava virus,associated with acute pancreatitis.The patient was successfully treated by supportive management.Clinicians should be alert to the possibility of HFRS when examining patients with epidemiological data and symptoms of acute pancreatitis.

  1. Neuroleptic Malignant Syndrome Associated with Refractory Acute Disseminated Encephalomyelitis

    Directory of Open Access Journals (Sweden)

    Silvia R. Delgado


    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.

  2. Neuroleptic malignant syndrome associated with atypical antipsychotic drugs. (United States)

    Trollor, Julian N; Chen, Xiaohua; Sachdev, Perminder S


    Neuroleptic malignant syndrome (NMS) is a rare but potentially severe idiosyncratic adverse reaction usually seen in the context of treatment with antipsychotic drugs. Although NMS is historically associated with the classic or 'typical' antipsychotic drugs, it is also a potential adverse effect of atypical antipsychotic drugs. The widespread use of atypical antipsychotic drugs highlights the need to examine the data relating to the symptomatology, diagnosis, classification and management of NMS with these newer agents. We used MEDLINE and EMBASE to identify NMS case reports and systematic reviews published to June 2008 related to the atypical antipsychotic drugs clozapine, olanzapine, risperidone, paliperidone, aripiprazole, ziprasidone, amisulpride and quetiapine. Case reports and reviews were systematically examined. Our review suggests that, in general, NMS associated with atypical antipsychotic drugs manifests in a typical manner. One notable exception is clozapine-induced NMS, which appears less likely to manifest with extrapyramidal features, including rigidity and tremor. The available literature highlights the divergence of opinion relating to the core diagnostic features of NMS and its conceptualization as a categorical versus dimensional disorder. Both these issues have relevance for the identification of atypical or milder forms of NMS, which are sometimes seen with atypical antipsychotic drugs.

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

    Directory of Open Access Journals (Sweden)

    Thomas A


    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.

  4. Atypical Neuroleptic Malignant Syndrome Associated with Use of Clozapine

    Directory of Open Access Journals (Sweden)

    Quevedo-Florez Leonardo


    Full Text Available The Neuroleptic Malignant Syndrome (NMS is a medical emergency of infrequent presentation in the emergency department, which is associated with the use of psychiatric drugs, such as typical and atypical antipsychotics. Our case addresses a 55-year-old patient diagnosed with undifferentiated schizophrenia for 10 years, who had been receiving clozapine and clonazepam as part of their treatment. This patient presents the symptoms of Neuroleptic Malignant Syndrome without fever, which improves with treatment especially with the withdrawal of clozapine. In the absence of fever and clinical improvement, the patient is considered to have an atypical presentation of this disease.

  5. Sickle cell syndrome. Association between hemoglobin S and β thalassemia

    Directory of Open Access Journals (Sweden)

    Nehuen P. Gasparini


    Full Text Available Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.

  6. Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity. (United States)

    Gait-Carr, Eleanor; Connolly, Daniel J A; King, David


    Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

  7. Seatbelt syndrome associated with an isolated rectal injury: case report. (United States)

    Hefny, Ashraf F; Al-Ashaal, Yousef I; Bani-Hashem, Ahmed M; Abu-Zidan, Fikri M


    Seatbelt syndrome is defined as a seatbelt sign associated with a lumbar spine fracture and a bowel perforation. An isolated rectal perforation due to seatbelt syndrome is extremely rare. There is only one case reported in the Danish literature and non in the English literature. A 48-year old front seat restrained passenger was involved in a head-on collision. He had lower abdominal pain and back pain. Seatbelt mark was seen across the lower abdomen. Initial trauma CT scan was normal except for a burst fracture of L5 vertebra which was operated on by internal fixation on the same day. The patient continued to have abdominal pain. A repeated abdominal CT scan on the third day has shown free intraperitoneal air. Laparotomy has revealed a perforation of the proximal part of the rectum below the recto sigmoid junction. Hartmann's procedure was performed. The abdomen was left open. Gradual closure of the abdominal fascia over a period of two weeks was performed. Postoperatively, the patient had temporary urinary retention due to quada equina injury which resolved 10 months after surgery. The presence of a seatbelt sign and a lumbar fracture should raise the possibility of a bowel injury.

  8. Seatbelt syndrome associated with an isolated rectal injury: case report

    Directory of Open Access Journals (Sweden)

    Bani-Hashem Ahmed M


    Full Text Available Abstract Seatbelt syndrome is defined as a seatbelt sign associated with a lumbar spine fracture and a bowel perforation. An isolated rectal perforation due to seatbelt syndrome is extremely rare. There is only one case reported in the Danish literature and non in the English literature. A 48-year old front seat restrained passenger was involved in a head-on collision. He had lower abdominal pain and back pain. Seatbelt mark was seen across the lower abdomen. Initial trauma CT scan was normal except for a burst fracture of L5 vertebra which was operated on by internal fixation on the same day. The patient continued to have abdominal pain. A repeated abdominal CT scan on the third day has shown free intraperitoneal air. Laparotomy has revealed a perforation of the proximal part of the rectum below the recto sigmoid junction. Hartmann's procedure was performed. The abdomen was left open. Gradual closure of the abdominal fascia over a period of two weeks was performed. Postoperatively, the patient had temporary urinary retention due to quada equina injury which resolved 10 months after surgery. The presence of a seatbelt sign and a lumbar fracture should raise the possibility of a bowel injury.

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

    DEFF Research Database (Denmark)

    Sabroe, T.P.; Sabers, A.


    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......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...

  10. A case of serotonin syndrome associated with methadone overdose. (United States)

    Martinez, Terry T; Martinez, Daniel N


    A chronic pain patient prescribed 20 mg of methadone per day was seen at the Emergency Department within one hour following a witnessed intentional 200 mg ingestion. In addition, he was taking the serotonin re-uptake inhibitor antidepressant drugs, sertraline and venlafaxine as prescribed. Methadone is also a serotonin re-uptake inhibitor which has been involved in serotonin toxicity reactions. Initially, no symptoms of narcotic overdose (depressed central nervous system, respiration, or blood pressure) could be distinguished, and the standard narcotic urine screen was negative. No decontamination or antagonist therapy was given, and the patient was discharged to a psychiatric unit for observation. At 5 hours post-ingestion he presented in a panic with hallucinations and elevated blood pressure, pulse, and respiration. These symptoms are characteristic of serotonin syndrome which is often described as mental status changes, autonomic hyperactivity, and neuromuscular abnormalities. At 10 hours post-ingestion the patient was found unconscious. He had aspirated stomach contents into his lungs. His respiration, blood pressure, and pulse were all severely depressed. He never regained conciousness, and he died 5 days later. The medical examiner's finding was probable acute methadone intoxication. In this case serotonin syndrome appears to have opposed and delayed typical narcotic symptoms. Methadone has additional pharmacologic and toxicologic properties which may complicate the assessment and treatment in overdose situations.

  11. 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


    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...

  12. Neuroleptic malignant syndrome associated with metoclopramide in a child. (United States)

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


    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.

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


    Juan Camilo Botero; Alejandro García; Juliana Hidalgo


    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...

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

    DEFF Research Database (Denmark)

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


    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...

  15. Stevens-Johnson syndrome associated with antimicrobial agent

    Directory of Open Access Journals (Sweden)

    Ivo Cavalcanti Pita Neto


    Full Text Available Among the severe reactions to medications, immune-mediated Mucocutaneous Disorders are widely represented. Steven-Johnson’s syndrome, or great multiform erythema, appears as a systemic disturbance, involving the skin and mucous membranes, and is related to several factors, such as, viral or bacterial infections and particularly the administration of medicines, in general painkillers and antibiotics. The objective of this article is report the onset of ulcerative vesicle –blister lesions in the regions of the lips, gums, tongue and genital mucosa membrane in a 26 year-old patient, a leukoderm man, being treated with sulfamethoxazole trimethoprim for a respiratory infection, after being diagnosed as having the Steven-Johnson syndrome. SSJ1 558187121279.

  16. Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta. (United States)

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


    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.

  17. Visual hallucinations (Charles Bonnet syndrome associated with neurosarcoidosis

    Directory of Open Access Journals (Sweden)

    Jason Zhang


    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.

  18. Lown-Ganong-Levine Syndrome Associated with Mahaim Nodoventricular Fibers


    Rakovec, Peter; Cijan, Andrej


    A patient with Lown-Ganong-Levine syndrome, in whom electrophysiologic evaluation revealed nodoventricular accessory connections, is described. The resting electrocardiographic pattern, which is unusual in patients with Mahaim type of preexcitation, was due to relatively short A-H and H-V intervals. Electrophysiologic study is indispensable for exact diagnosis in patients with preexcitation syndromes.*

  19. Miller-Fisher syndrome associated with chronic lymphocytic leukemia

    Directory of Open Access Journals (Sweden)

    Aki Zeynep


    Full Text Available Chronic lymphocytic leukemia (CLL is a frequent hematological malignancy, with meningeal or peripheral nerve infiltrations being the most commonly encountered neurological complications. In this report, we describe a CLL patient with Miller-Fisher syndrome (MFS who responded to immune modulation with plasmapheresis. A 47-year-old man diagnosed as B-cell CLL admitted with neutropenic fever. He complained of diplopia and numbness of both arms. Neurological examination revealed a bilateral external ophthalmoplegia, dysphagia, dysarthria, mild shoulder girdle muscle weakness and gait ataxia, accompanied by absent tendon reflexes. Nerve conduction studies were indicative of a predominantly axonal sensori-motor peripheral neuropathy. This association of CLL with MFS had not been previously reported in the literature.

  20. [Sea-blue histiocyte syndrome associated with home parenteral nutrition]. (United States)

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


    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. 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.


    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.

  2. 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


    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.

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

    Directory of Open Access Journals (Sweden)

    Noha Mohamed AbdelMaboud Ibrahim


    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.

  4. Multiple organ dysfunction syndrome associated with Mycoplasma pneumoniae infection

    Directory of Open Access Journals (Sweden)

    Shu-Bo Zhai


    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.

  5. [A case of Meige's syndrome associated with post head trauma]. (United States)

    Kimura, T; Deshimaru, M; Inukai, K; Matsunaga, T; Miyakawa, T


    The pathogenesis of Meige's syndrome (MS) is controversial and has yet to be determined up to today. We studied a case of MS associated with post head trauma. The patient was a 52-year-old female. At the age of 46, she began to suffer from oro-lingual dystonia after head trauma induced by a traffic accident and the brief administration of neuroleptics to the delusion deteriorated the dystonia. She showed a wry appearance after 1 year and 6 months of the trauma and began to exhibit blepharospasms, oro-mandibular dystonia and cervical dystonia after 2 years and 3 months. For these symptoms her daily life became difficult. These symptoms were resistant to various drug therapies, although trihexyphenidyl relieved the symptoms transiently. Laboratory examinations and cranial MRI findings were normal. By surface electromyogram of ocular orbicular muscles, bilateral continuous discharge was observed. This patient was diagnosed as MS by clinical symptoms and surface electromyogram findings. It was inferred that the head trauma was associated with the development of MS. We discussed the pathogenesis of MS in the present case and it was speculated that MS was presented by a minute lesion of the brain stem which was produced at the time of the head trauma.

  6. Sjögren's syndrome associated with systemic lupus erythematosus. (United States)

    Taşdemir, Mehmet; Hasan, Chiar; Ağbaş, Ayşe; Kasapçopur, Özgür; Canpolat, Nur; Sever, Lale; Çalışkan, Salim


    Systemic lupus erythematosus and Sjögren's syndrome are chronic auto- inflammatory disorders which can lead to serious organ damage. Although systemic lupus erythematosus and Sjögren's syndrome were previously considered two forms of the same disease because of presence of clinical coexistence of these two conditions, the view that they are two different conditions with mutual characteristics has become prominent in recent years. In this paper, we reported a 16 year-old girl who was followed up with a diagnosis of Sjögren's syndrome for six years and then was observed to have overlap of systemic lupus erythematosus. In the baseline, she did not have any clinical or serological evidence for systemic lupus erythematosus. After six year, massive proteinuria and serological findings developed and systemic lupus erythematosus nephritis was diagnosed by kidney biopsy. Currently, systemic lupus erythematosus and Sjögren's syndrome cannot be differentiated definetely. We need more valuable diagnostic and classification criteria to differentiate these two important conditions.

  7. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

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    Julian P Venables


    Full Text Available BACKGROUND: Sequence analysis of the regulators of complement activation (RCA cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity between the gene for factor H (CFH and the genes for the five factor H-related proteins (CFHL1-5; aliases CFHR1-5. CFH mutations have been described in association with atypical haemolytic uraemic syndrome (aHUS. The majority of the mutations are missense changes that cluster in the C-terminal region and impair the ability of factor H to regulate surface-bound C3b. Some have arisen as a result of gene conversion between CFH and CFHL1. In this study we tested the hypothesis that nonallelic homologous recombination between low-copy repeats in the RCA cluster could result in the formation of a hybrid CFH/CFHL1 gene that predisposes to the development of aHUS. METHODS AND FINDINGS: In a family with many cases of aHUS that segregate with the RCA cluster we used cDNA analysis, gene sequencing, and Southern blotting to show that affected individuals carry a heterozygous CFH/CFHL1 hybrid gene in which exons 1-21 are derived from CFH and exons 22/23 from CFHL1. This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A that has been previously described in association with aHUS. CONCLUSIONS: CFH mutation screening is recommended in all aHUS patients prior to renal transplantation because of the high risk of disease recurrence post-transplant in those known to have a CFH mutation. Because of our finding it will be necessary to implement additional screening strategies that will detect a hybrid CFH/CFHL1 gene.

  8. [McCune-Albright syndrome associated with diabetes mellitus]. (United States)

    Chihaoui, M; Hamza, N; Lamine, F; Jabeur, S; Yazidi, M; Ftouhi, B; Slimane, H


    McCune-Albright syndrome (MAS) consists of the triad of polyostotic fibrous dysplasia, cutaneous pigmentation, and multiple endocrine abnormalities. Type 1 diabetes mellitus is not included in MAS. We report the case of an 18-year-old girl who presented with McCune-Albright syndrome. The diagnosis was made by the presence of precocious puberty at the age of 6 years, cutaneous pigmentation, polyostotic fibrous dysplasia, and phosphate diabetes. Type 1 diabetes mellitus developed at the age of 16 years. We discuss this case, the relationship between type 1 diabetes mellitus and MAS, with a literature review.

  9. Parry-Romberg Syndrome Associated with Localized Scleroderma

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    Jelena Maletic


    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.

  10. [Pathogenesis of lipodystrophy and metabolic syndromes associated with HIV infection]. (United States)

    Muñoz-Sanz, Agustín; Rodríguez-Vidigal, Francisco F; Domingo, Pere


    Lipodystrophy, and the metabolic alterations (dislipemia, insulin-resistance) associated with human immunodeficiency virus (HIV) infection, is a multifactorial syndrome due to the interaction of host related factors (cellular immune status, diet, gene mutations), viral factors (cytokine synthesis, polyunsaturated fatty acid or PUFA depletion), and pharmacological effects (mitochondrial DNA-polymerase inhibition, lipolysis inhibition, adiponectin synthesis reduction). HIV probably modifies the adipocyte differentiation and the lipid metabolism. This retroviral effect is mediated by proinflammatory cytokines (tumor necrosis factor) and the participation of other factors (drugs, diet), all in the context of a particular host genetic setting. The adipocyte (and several cellular receptors, fatty acids, membrane proteins, and cytokines) plays a central role in the pathogenesis of HIV-associated lipodystrophy.

  11. Kounis syndrome associated with amoxicillin/clavulanic acid

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    A Shimi


    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.

  12. Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma


    Zhao, Jing; Zhang, Xilin; Chen, Zhuo; Wu, Jian-Hua


    Abstract Bazex syndrome, a rare paraneoplastic syndrome characterized by psoriasiform eruptions, palmoplantar keratosis, and symmetric onychodystrophy, is most prevalent with squamous cell carcinomas of the upper aerodigestive tract. Here, we reported an uncommon case of Bazex syndrome about an 83-year-old man with pulmonary adenocarcinoma and osseous metastasis, Physical examination found psoriasiform eruptions on the nose, cheeks, ears, knees, and the dorsa of interphalangeal joints, along ...

  13. Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma. (United States)

    Zhao, Jing; Zhang, Xilin; Chen, Zhuo; Wu, Jian-Hua


    Bazex syndrome, a rare paraneoplastic syndrome characterized by psoriasiform eruptions, palmoplantar keratosis, and symmetric onychodystrophy, is most prevalent with squamous cell carcinomas of the upper aerodigestive tract.Here, we reported an uncommon case of Bazex syndrome about an 83-year-old man with pulmonary adenocarcinoma and osseous metastasis, Physical examination found psoriasiform eruptions on the nose, cheeks, ears, knees, and the dorsa of interphalangeal joints, along with plantar keratosis and symmetric onychodystrophy involving hands and feet. Imaging analyses pulmonary adenocarcinoma with both local metastatic nodules and osseous metastasis.Symptomatic treatment with topical corticosteroids and oral retinoids showed no improvement. A 4-month follow-up showed that Gefitinib, an epidermal growth factor receptor tyrosine kinase inhibitor, successfully reduced primary tumor size and alleviated cutaneous lesions.Our report here highlighted a potential correlation between pulmonary adenocarcinoma and Bazex syndrome, which is characterized by hallmark nail destruction and preferential involvement of body extremities. Moreover, etiological therapy against underlying malignancy is essential for treating paraneoplastic Bazex syndrome.

  14. Burning mouth syndrome associated with varicella zoster virus. (United States)

    Nagel, Maria A; Gilden, Don


    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.

  15. Hand foot syndrome associated with standard dose cytarabine

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    Atul Sharma


    Full Text Available Hand-foot syndrome, is a side effect of cytotoxic chemotherapy, causes erythema, dysthesias, swelling of palms and soles and sometimes blisters. Rarely, it may ulcerate. The most commonly used drug that frequently causes this reaction is 5-fluorouracil or its prodrug oral capecitabine. High dose cytarabine is known to cause HFS. Here we report a case of HFS caused by standard dose cytarabine.

  16. Churg-Strauss syndrome associated with leukotriene receptor antagonists (LTRA). (United States)

    Cuchacovich, R; Justiniano, M; Espinoza, L R


    Churg-Strauss syndrome (CSS) is a rare vasculitic disorder that generally occurs in patients with bronchial asthma. CSS is being increasingly recognized in asthmatic patients treated with leukotriene receptor antagonists. However, the nature of this relationship remains to be elucidated. The present report describes three asthmatic patients who developed clinical manifestations highly suggestive of CSS, although one patient lacked the presence of eosinophilia. The patient, however, exhibited biopsy-proven cutaneous necrotizing vasculitis, which improved after withdrawal of montelukast. The second patient presented with systemic constitutional signs including fever, malaise, arthralgias, clinical jaundice, peripheral blood eosinophilia, and biopsy-proven eosinophilic hepatitis. The third patient also had circulating eosinophilia, scleritis, and arthritis. All patients improved after discontinuation of the leukotriene receptor antagonist (montelukast).

  17. Duane's retraction syndrome associated with morning glory syndrome. (United States)

    Kawano, K; Fujita, S


    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.

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

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    P. Quattrocchi


    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.

  19. A case of Poland Syndrome associated with dextroposition

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    Guerrini Pietro


    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.

  20. A lupus-like syndrome associated with infliximab therapy. (United States)

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


    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.

  1. [Dermatomiositis and evans syndrome associated with HTLV-1 infection]. (United States)

    Loja-Oropeza, David; Zavala-Flores, Ernesto; Vilca-Vasquez, Maricela


    A 55-year-old female patient, born in Ayacucho, with a history of dermatomyositis for 3 years, who received irregular treatment with prednisone. Two months prior to admission, she presented with autoinmune hemolytic anemia and idiopathic thrombocytopenic purpura. The patient received methylprednisolone pulse therapy and packed red blood cells transfusions. Upon admission, she was drowsy, with a poor overall status, marked weight loss, dehydration, with presence of livedo reticularis in her lower extremities, and onychodystrophy and onycholysis on the toes of both feet. Western blot test was positive for human T-lymphotropic virus type 1 (HTLV-1). The patient evolved with recurrent hypoglycemia. Therefore, we report a case of dermatomyositis and Evans syndrome in the context of an HTLV-1 infection.

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


    Resende, Cristina; Santos, Rui; Pereira,Teresa; Brito,Celeste


    Abstract 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 evoluti...

  3. [Posterior Reversible Encephalopathy Syndrome Associated with Cancer Therapy]. (United States)

    Mitsuya, Koichi; Nakasu, Yoko; Hayashi, Nakamasa; Yasui, Hirofumi; Ikeda, Takashi; Kuji, Shiho; Onozawa, Yusuke; Endo, Masahiro


    Posterior reversible encephalopathy syndrome(PRES)is a subacute neurological syndrome typically manifesting with headache, cortical blindness, and seizures. This syndrome is associated with risk factors such as malignant hypertension, eclampsia, and renal failure. Numerous case reports depict its occurrence in cancer patients. The direct causal mechanisms of PRES in cancer patients have not yet been identified. Cytotoxic chemotherapy may cause direct endothelial damage, which would impact the blood brain barrier. Angiogenesis inhibitors also cause elevation in blood pressure;this is significant, because PRES onset may be solely related to hypertension. An increased number of case reports involving new molecular targeted agent suggests that incidence of PRES as an oncological emergency may increase in the future.

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

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    Juan Camilo Botero


    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.

  5. Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

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    Sadia Masood


    Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

  6. Neuroleptic Malignant Syndrome Associated with Valproate in an Adolescent (United States)

    Yıldırım, Veli; Direk, Meltem Çobanogulları; Güneş, Serkan; Okuyaz, Çetin; Toros, Fevziye


    Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction that usually occurs after the administration of antipsychotic drugs. Antidepressants, benzodiazepines, and antiepileptic drugs are also suggested to be associated with NMS. It is believed to result from a dopaminergic blockade in the central nervous system. NMS is manifested by hyperthermia, muscle rigidity, autonomic dysfunction, altered mental status, leukocytosis, and elevated serum creatinine phosphokinase. Valproate is commonly used in the treatment of many psychiatric and neurologic disorders. Valproate can precipitate NMS, especially when used with antipsychotic drugs concurrently. A 17-year-old male patient, who presented with fever, muscular rigidity, confusion, sweating, and tachycardia was admitted to the emergency room. He had been taking only valproate for the last two months for bipolar disorder. His laboratory analyses revealed raised serum hepatic enzymes, creatinine phosphokinase, and myoglobin levels. Considering fever, rigidity, autonomic dysfunction, cognitive alteration, and high creatinine phosphokinase levels, the patient was diagnosed with NMS. In this paper, we aim to discuss the association between valproate and NMS. PMID:28138117

  7. Moyamoya Syndrome Associated with Henoch-Schönlein Purpura (United States)

    SHIARI, Reza; TABATABAEI NODUSHAN, Seyed Mohamad Hossein; MOHEBBI, Mohamad Mahdi; KARIMZADEH, Parvaneh; JAVADZADEH, Mohsen


    Some reports have shown the association between Moyamoya syndrome and autoimmune diseases. Herewith, we present a 3.5 yr old girl with Henoch- Schönleinpurpura (HSP) who was treated with steroids because of sever colicky abdominal pain. However, central nervous system manifestations such as headache, ataxia and vision impairment developed during 6 months of her outpatient follow-up. More evaluation using MRA revealed intracranial stenosis of internal carotid artery and arterial collaterals that were in favor of Moyamoya syndrome. To our knowledge, this is the first report of Moyamoya syndrome following henoch-schönleinpurpura. PMID:27843469

  8. Gerstmann's syndrome associated with chronic subdural haematoma: a case report. (United States)

    Maeshima, S; Okumura, Y; Nakai, K; Itakura, T; Komai, N


    We report a patient who exhibited Gerstmann's syndrome in association with a chronic subdural haematoma. A 71-year-old right-handed woman presented with mild right arm and leg weakness that began 2 weeks prior to admission. Neurological examination on admission revealed a mild right hemiparesis. Neuropsychological examination revealed right-left disorientation, finger agnosia, agraphia, and acalculia, but no language disturbance. A computerized tomographic (CT) scan revealed a large left frontoparietal, extra-axial hypodense fluid collection containing scattered hypodense foci. A left parietal evacuation of the haematoma was performed. Following surgery the patient dramatically improved. We suggest that the direct compression by the chronic subdural haematoma or a hemispheric pressure difference caused Gerstmann's syndrome. This is an unusual report of a Gerstmann's syndrome following chronic subdural haematoma.

  9. Small Molecular as SIRT Modulators. (United States)

    Yao, Lei; Xu, Xiangming; Chen, Kai


    Sirtuins are class III histone deacetylases, they involve in many important biological functions. Small molecules that can modulate sirtuin activity have been shown to have potential for treating many human diseases. In the article, recent development of small molecular as SIRT modulators has been reviewed.

  10. Small Bowel Review - Part I


    ABR Thomson; Wild, G.


    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 nucleoside...

  11. How Small Is a Billionth? (United States)

    Gough, John


    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.


    Directory of Open Access Journals (Sweden)



    Full Text Available The Idea of approach to maintain small family norm in the family and so to the society is the hope for almost all of the couples as the saying -"Small family is a happy family". And every couple always thinks and plan for a safer and better future.





    The Idea of approach to maintain small family norm in the family and so to the society is the hope for almost all of the couples as the saying -"Small family is a happy family". And every couple always thinks and plan for a safer and better future.

  14. Introduction: innovation and small business

    NARCIS (Netherlands)

    A.R. Thurik (Roy)


    textabstractThis paper introduces the special issue of Small Business Economics on Innovation. What binds the papers together is either their focus on the effect of firm size on the causes and consequences of innovation or their focus on the role small firms play in reshaping the industrial landscap

  15. Standard Deviation for Small Samples (United States)

    Joarder, Anwar H.; Latif, Raja M.


    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…

  16. Resourcing Change in Small Schools (United States)

    Anderson, Michelle; White, Simone


    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…

  17. Small bowel obstruction- a surprise. (United States)

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


    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.

  18. Cosmic Strings with Small Tension

    CERN Document Server

    Halyo, Edi


    We describe cosmic F--term strings with exponentially small tension which are D3 branes wrapped on deformed $A_3$ singularities. We show that brane instanton effects which can be calculated after a geometric transition give rise to an exponentially small volume for the node on which the D3 branes wrap leading to a string with small tension. We generalize our description to the case of non--Abelian cosmic strings and argue that these strings are stable against monopole--anti monopole pair creation.

  19. Understanding the small object argument

    CERN Document Server

    Garner, Richard


    The small object argument is a transfinite construction which, starting from a set of maps in a category, generates a weak factorisation system on that category. As useful as it is, the small object argument has some problematic aspects: it possesses no universal property; it does not converge; and it does not seem to be related to other transfinite constructions occurring in categorical algebra. In this paper, we give an ``algebraic'' refinement of the small object argument, cast in terms of Grandis and Tholen's natural weak factorisation systems, which rectifies each of these three deficiencies.

  20. Revascularização distal com laqueação arterial (DRIL: Tratamento de eleição para a isquémia em síndrome de roubo sintomático associado a FAV Distal revascularization with interval ligation (DRIL: First line treatment for symptomatic steel syndrome associated to AVF

    Directory of Open Access Journals (Sweden)

    Pedro Amorim


    Full Text Available As complicações relacionadas com os acessos de hemodiálise (HD são o principal motivo de internamento dos doentes renais crónicos. O tratamento cirúrgico do síndrome de roubo associado a isquemia grave e crítica é mandatório e urgente. A única técnica cirúrgica que garante segurança nos resultados no que diz respeito à resolução da isquemia com preservação do acesso vascular é o DRIL. Os autores apresentam o caso de uma doente, 78 anos, com insuficiência renal crónica hipertensiva, fístula úmero-cefálica e isquemia crítica da mão esquerda. O quadro clínico, com 13 meses de evolução, foi refractário à terapêutica médica pelo que foi realizado um DRIL. Verificou-se remissão imediata da dor e melhoria progressiva das lesões tróficas dos dedos da mão com preservação do acesso. Os autores defendem a realização do DRIL como primeira linha no tratamento destes doentes.Complications related to vascular access for hemodialysis (HD are the main reason for hospitalization of chronic renal patients. Surgical treatment of steal syndrome associated with severe and critical limb ischemia is mandatory and urgent. The only surgical technique that ensures safety in the results with regard to the resolution of ischemia and preservation of vascular access is DRIL. The authors present the case of a 78 year old patient with hypertensive chronic renal failure, humeral-cephalic fistula and critical ischemia of the left hand. The clinical picture, with 13 months of evolution, was refractory to medical therapy and so a DRIL was performed. There was immediate remission of pain and progressive improvement of ulcerations of the fingers. At the same time the access for HD was preserved and early punctured. The authors advocate the implementation of DRIL as first-line treatment in these patients.

  1. 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


    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.

  2. Small- x resummation from HELL (United States)

    Bonvini, Marco; Marzani, Simone; Peraro, Tiziano


    Small- x logarithmic enhancements arising from high-energy gluon emissions affect both the evolution of collinearly-factorized parton densities and partonic coefficient functions. With the higher collider energy reached by the LHC, the prospect of a future high-energy collider, and the recent deep-inelastic scattering (DIS) results at small- x from HERA, providing phenomenological tools for performing small- x resummation has become of great relevance. In this paper we discuss a framework to perform small- x resummation for both parton evolution and partonic coefficient functions and we describe its implementation in a computer code named High-Energy Large Logarithms ( HELL). We present resummed and matched results for the DGLAP splitting functions and, as a proof of principle, for the massless structure functions in DIS. Furthermore, we discuss the uncertainty from subleading terms on our results.

  3. Development project of small accelerator

    CERN Document Server

    Yamada, S


    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.)

  4. Small Probe Reentry System Project (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...

  5. Small Airframe Manufacturer's Icing Perspective (United States)

    Hoppins, Jim


    This viewgraph presentation describes the icing effects, risk mitigation practices, and icing certifications for various Cessna small aircraft models. NASA's role in the development of simulation tools for icing certifications is also discussed.

  6. Matrix Theory of Small Oscillations (United States)

    Chavda, L. K.


    A complete matrix formulation of the theory of small oscillations is presented. Simple analytic solutions involving matrix functions are found which clearly exhibit the transients, the damping factors, the Breit-Wigner form for resonances, etc. (BB)

  7. Small satellites and their regulation

    CERN Document Server

    Jakhu, Ram S


    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...

  8. Small Sat Analysis Laboratory Project (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...

  9. JPL Small Body Database Browser (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....

  10. Stages of Small Intestine Cancer (United States)

    ... intestine . The digestive system removes and processes nutrients ( vitamins , minerals , carbohydrates , fats, proteins , and water) from foods ... a microscope to see whether they contain cancer. Bypass : Surgery to allow food in the small intestine ...

  11. Severe small bowel radiation enteritis

    Energy Technology Data Exchange (ETDEWEB)

    Jaen, J.; Santos, J.A.; Carrion, J.R.; Garcia, P. (Hospital General Gregorio Maranon, Madrid (Spain))


    We have during recent years observed 8 patients with serious radiation injury to the small intestine. As the cases are quite illustrative, their symptomatology is briefly reported and the treatment and possible predisposing factors are analysed. (orig./MG).

  12. Small Bowel Review - Part I


    Thomson, ABR; Wild, G.


    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...

  13. Small Satellite Reaction Wheel Optimization


    Michaelis, Ted


    The very "smallness" of small satellites mandates mass minimization. This paper addresses minimization of overall reaction wheel mass, including the incremental mass of the power subsystem needed to support the reaction wheel. The results are applicable to a wide range of wheel sizes and are suitable for optimization at the configuration level. For an average momentum and torque operating point, the minimization process yields wheel radius and angular velocity, as well as, the masses associat...

  14. Small and Scenic Fenghuang City

    Institute of Scientific and Technical Information of China (English)


    FENGHUANG(Chinese for phoenix), a small city under the jurisdiction of the Tujia Autonomous Prefecture of Hunan Province, borders northern Guizhou Province and eastern Chongqing Municipality. Surrounded by mountains and girdled by the Tuojiang River, this small, quiet city is famous for its beautiful landscape, and as birthplace of several celebrated Chinese personages.Fenghuang’s history dates back 1,316 years. It was originally named Weiyang, and its location was in today’s Huangsiqiao

  15. World Small Hydropower Development Report

    Energy Technology Data Exchange (ETDEWEB)

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


    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.

  16. 78 FR 59410 - Small Business Innovation Research and Small Business Technology Transfer Programs... (United States)


    ... From the Federal Register Online via the Government Publishing Office SMALL BUSINESS ADMINISTRATION Small Business Innovation Research and Small Business Technology Transfer Programs... period for the Small Business Innovation Research (SBIR) and Small Business Technology Transfer...


    Directory of Open Access Journals (Sweden)



    Full Text Available Development of small injection moulding machine for forming small plastic articles in small-scale industries was studied. This work which entailed design, construction and test small injection moulding machine that was capable of forming small plastic articles by injecting molten resins into a closed, cooled mould, where it solidifies to give the desired products was developed. The machine was designed and constructed to work as a prototype for producing very small plastic components. Design concept, operation, and assembly of components parts were made. Also, working drawings and materials selection were made based on calculations of the diameter of injection plunger, number of teeth required for the plunger rack and spur gear, the angular velocity, number of revolution, torque and power obtained from the electric motor selected and the leverage on the handle of the machine. The machine parts/components were then assembled in line with the designed made, thereafter the constructed machine was tested using high density polyethylene and master batch. The results obtained from the test were satisfactory.

  18. 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:; 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)


    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

  19. Small-ductprimarysclerosingcholangitis withhepatocellularcarcinomarequiringliver transplantation

    Institute of Scientific and Technical Information of China (English)

    Sharif Ali; Veena Shah


    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.

  20. Tumours in the Small Bowel

    Directory of Open Access Journals (Sweden)

    N. Kurniawan


    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.

  1. 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)


    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.

  2. Small Bowel Review - Part I

    Directory of Open Access Journals (Sweden)

    ABR Thomson


    Full Text Available 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, fatty acid binding proteins, intracellular metabolism, lipoproteins and bile acids; and metals (eg, iron and vitamins.

  3. Purchasing cooperatives for small employers. (United States)

    Mallozzi, J


    Despite a booming economy, the number of uninsured Americans is rising. It hit nearly 42 million in 1996. Many of the uninsured work at businesses with fewer than 50 employees. Because small firms have traditionally found it difficult to provide health benefits, purchasing cooperatives have grown in scope and size across the country in recent years. By bringing small businesses together to buy insurance as a group, these organizations can help employers provide greater choice to their workers at a lower cost. However, to operate well in the insurance market, purchasing cooperatives must be well-designed and provided with adequate legal protections.

  4. Appropriate technology for small turbines

    Energy Technology Data Exchange (ETDEWEB)

    Strohmer, F.; Walch, E.


    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.

  5. Department of the Navy Small Business Programs (United States)


    small business concerns and to women -owned small business concerns eligible under the Women -Owned Small Business Program. The dollar...2014 For All US-Based Women Owned Small Business Awards Over $ 200M Over $ 100M Over...Department of the Navy Small Business Programs Gold Coast August 13, 2014 Report Documentation Page Form ApprovedOMB No. 0704-0188

  6. Biological productivity in small impoundments (United States)

    Most ponds and small impoundments are built or used with a principal use in mind. That use may be recreational fishing, commercial aquaculture, waterfowl hunting, potable water storage, irrigation water supply, livestock watering, stormwater retention, landscaping, swimming, or others. In practice, ...

  7. Small firm transformation through IS

    NARCIS (Netherlands)

    Levy, Margi; Powell, Philip


    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

  8. New Russian Combat Small Boats

    Directory of Open Access Journals (Sweden)

    Aleksandr F. Mitrofanov


    Full Text Available The article presents an overview of small combat boats. The author provides a description and gives an analysis of the characteristics of the boat "Raptor", boat "BK-16", boat "Strizh-4-1 DSh", and assault boat "BK-10".

  9. Exact completions and small sheaves

    CERN Document Server

    Shulman, Michael


    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".

  10. Modeling Interactions in Small Groups (United States)

    Heise, David R.


    A new theory of interaction within small groups posits that group members initiate actions when tension mounts between the affective meanings of their situational identities and impressions produced by recent events. Actors choose partners and behaviors so as to reduce the tensions. A computer model based on this theory, incorporating reciprocal…

  11. Calculator. Owning a Small Business. (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,…

  12. The Case of Small Retailers


    World Bank Group; World Economic Forum


    This report aims to deepen the understanding of barriers to and incentives for the acceptance and use of electronic payments, from the perspective of micro, small and medium retailers (merchants). Developing and accelerating acceptance of electronic payments by these merchants is essential to expanding financial access. A basic transaction account for payments and deposits is considered an...

  13. Small bowel transplantation: An overview

    NARCIS (Netherlands)

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


    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

  14. Small Molecule PET-Radiopharmaceuticals

    NARCIS (Netherlands)

    Elsinga, Philip H.; Dierckx, Rudi A. J. O.


    This review describes several aspects required for the development of small molecule PET-tracers. Design and selection criteria are important to consider before starting to develop novel PET-tracers. Principles and latest trends in C-11 and F-18-radiochemistry are summarized. In addition an update o

  15. Hispanic Women Small Business Owners. (United States)

    Sarason, Yolanda; Koberg, Christine


    A survey of 22 Hispanic women who owned small businesses in a western state found that most were located in metropolitan areas, were new to business ownership, had started the business themselves, engaged in "miscellaneous services," and generated lower than average revenues. Respondents were similar to nonminority owners in educational…

  16. Economics: An Emerging Small World?

    NARCIS (Netherlands)

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


    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

  17. 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


    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.

  18. Economics : An emerging small world

    NARCIS (Netherlands)

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


    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

  19. Small store presence in Japan

    NARCIS (Netherlands)

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


    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

  20. Small Bodies, Big Discoveries: NASA's Small Bodies Education Program (United States)

    Mayo, L.; Erickson, K. J.


    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.

  1. Small is beautiful: models of small neuronal networks. (United States)

    Lamb, Damon G; Calabrese, Ronald L


    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.

  2. Propulsion Challenges for Small Spacecraft: 2005

    Institute of Scientific and Technical Information of China (English)

    Vadim Zakirov; LI Luming


    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.

  3. Small-Engine Research Laboratory (SERL) (United States)

    Federal Laboratory Consortium — Description: The Small-Engine Research Laboratory (SERL) is a facility designed to conduct experimental small-scale propulsion and power generation systems research....

  4. Unveiling small sphere's scattering behavior

    CERN Document Server

    Tzarouchis, Dimitrios C; Sihvola, Ari


    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.

  5. Small-for-sizesyndromeinlivingdonorliver transplantation

    Institute of Scientific and Technical Information of China (English)

    Shintaro Yagi; Shinji Uemoto


    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.

  6. Trust Development in Small Teams (United States)


    values, shared goals) Category-Based Trust Expectations (e.g. rank, recognition, responsibil ity, stereotypes , roles, reputation) Task Features (e.g...categories to which people belong. This form of trust has been called category-based trust (Kramer, 1999). Many common categories (e.g. women , men...particular stereotypes within small military teams (e.g. cultural, gender stereotypes ) are also likely to influence judgements of trust. No specific

  7. Evolution of small prokaryotic genomes


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


    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 ...

  8. Evolution of small prokaryotic genomes


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


    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 ...

  9. 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


    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...

  10. Wastewater services for small communities. (United States)

    Gray, S; Booker, N


    Connection to centralised regional sewage systems has been too expensive for small-dispersed communities, and these townships have traditionally been serviced by on-site septic tank systems. The conventional on-site system in Australia has consisted of an anaerobic holding tank followed by adsorption trenches. This technique relies heavily on the uptake of nutrients by plants for effective removal of nitrogen and phosphorus from the effluent, and is very seasonal in its efficiency. Hence, as these small communities have grown in size, the environmental effects of the septic tank discharges have become a problem. In locations throughout Australia, such as rural Victoria and along the Hawkesbury-Nepean River, septic tanks as being replaced with the transport of sewage to regional treatment plants. For some isolated communities, this can mean spending 20,000 dollars-40,000 dollars/household, as opposed to more common connection prices of 7,000 dollars/household. This paper explores some alternative options that might be suitable for these small communities, and attempts to identify solutions that provide acceptable environmental outcomes at lower cost. The types of alternative systems that are assessed in the paper include local treatment systems, separate blackwater and greywater collection and treatment systems both with and without non-potable water recycling, a small township scale treatment plant compared to either existing septic tank systems or pumping to a remote regional treatment facility. The work demonstrated the benefits of a scenario analysis approach for the assessment of a range of alternative systems. It demonstrated that some of the alternatives systems can achieve better than 90% reductions in the discharge of nutrients to the environment at significantly lower cost than removing the wastewater to a remote regional treatment plant. These concepts allow wastewater to be retained within a community allowing for local reuse of treated effluent.

  11. 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


    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.

  12. Superconductivity of small metal grains

    Institute of Scientific and Technical Information of China (English)

    ZHENG; Renrong; CHEN; Zhiqian; ZHU; Shunquan


    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.

  13. Evolution of small prokaryotic genomes

    Directory of Open Access Journals (Sweden)

    David José Martínez-Cano


    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.

  14. Small Break Air Ingress Experiment

    Energy Technology Data Exchange (ETDEWEB)

    Chang Oh; Eung Soo Kim


    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.

  15. 78 FR 48537 - Small Business Innovation Research and Small Business Technology Transfer Programs... (United States)


    ... 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... Business Administration, 409 Third Street SW., Washington, DC 20416; or send an email to...

  16. 76 FR 74749 - Small Business Subcontracting (United States)


    ... small business subcontracting plan is required, currently valued above $1.5 million for construction and... contracting officer is responsible for monitoring and evaluating small business subcontracting plan...; ] SMALL BUSINESS ADMINISTRATION 13 CFR Parts 121 and 125 RIN 3245-AG22 Small Business...

  17. Small Group Communication in the 1980's. (United States)

    Neer, Michael R., Ed.


    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…

  18. 78 FR 59798 - Small Business Subcontracting: Correction (United States)


    ... 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...

  19. Japanese Small Type Coastal Whaling

    Directory of Open Access Journals (Sweden)

    Sue Fisher


    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.

  20. Rain on small tropical islands (United States)

    Sobel, A. H.; Burleyson, C. D.; Yuter, S. E.


    A high-resolution rainfall climatology based on observations from the Tropical Rainfall Measuring Mission's Precipitation Radar (PR) instrument is used to evaluate the influence of small tropical islands on climatological rainfall. Islands with areas between one hundred and several thousand km2 are considered in both the Indo-Pacific Maritime Continent and Caribbean regions. Annual mean climatological (1997-2007) rainfall over each island is compared with that over the surrounding ocean region, and the difference is expressed as a percentage. In addition to total rainfall, rain frequency and intensity are also analyzed. Results are stratified into two 12 h halves of the diurnal cycle as well as eight 3 h periods, and also by a measure of each island's topographic relief. In both regions, there is a clear difference between larger islands (areas of a few hundred km2 or greater) and smaller ones. Both rain frequency and total rainfall are significantly enhanced over larger islands compared to the surrounding ocean. For smaller islands the enhancement is either negligibly small, statistically insignificant, or, in the case of Caribbean rain frequency, negative. The enhancement in total rainfall over larger islands is partly attributable to greater frequency and partly to greater intensity. A diurnal cycle in island enhancement is evident in frequency but not intensity, except over small Caribbean islands where the converse is true. For the larger islands, higher orography is associated with greater rainfall enhancements. The orographic effect is larger (percentagewise) in the Caribbean than in the Maritime Continent. Orographic precipitation enhancement manifests more strongly as increased frequency of precipitation rather than increased intensity and is present at night as well as during the day. The lack of a clear diurnal cycle in orographic enhancement suggests that much of the orographic rainfall enhancement is attributable to mechanically forced upslope flow

  1. 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.

  2. A case of McKusick-Kaufman syndrome

    Directory of Open Access Journals (Sweden)

    Se Hyung Son


    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.

  3. [Genetic diagnostic testing in inherited retinal dystrophies]. (United States)

    Kohl, S; Biskup, S


    Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal forms (i.e., Usher syndrome, Bardet-Biedl syndrome) can be differentiated. To date almost 180 genes and thousands of distinct mutations have been identified that are responsible for the different forms of these blinding illnesses. Until recently, there was no adequate diagnostic genetic testing available. With the development of the next generation sequencing technologies, a comprehensive genetic screening analysis for all known genes for inherited retinal dystrophies has been established at reasonable costs and in appropriate turn-around times. Depending on the primary clinical diagnosis and the presumed mode of inheritance, different diagnostic panels can be chosen for genetic testing. Statistics show that in 55-80 % of the cases the genetic defect of the inherited retinal dystrophy can be identified with this approach, depending on the initial clinical diagnosis. The aim of any genetic diagnostics is to define the genetic cause of a given illness within the affected patient and family and thereby i) confirm the clinical diagnosis, ii) provide targeted genetic testing in family members, iii) enable therapeutic intervention, iv) give a prognosis on disease course and progression and v) in the long run provide the basis for novel therapeutic approaches and personalised medicine.

  4. 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.

  5. Primary cilia in energy balance signaling and metabolic disorder. (United States)

    Lee, Hankyu; Song, Jieun; Jung, Joo Hyun; Ko, Hyuk Wan


    Energy homeostasis in our body system is maintained by balancing the intake and expenditure of energy. Excessive accumulation of fat by disrupting the balance system causes overweight and obesity, which are increasingly becoming global health concerns. Understanding the pathogenesis of obesity focused on studying the genes related to familial types of obesity. Recently, a rare human genetic disorder, ciliopathy, links the role for genes regulating structure and function of a cellular organelle, the primary cilium, to metabolic disorder, obesity and type II diabetes. Primary cilia are microtubule based hair-like membranous structures, lacking motility and functions such as sensing the environmental cues, and transducing extracellular signals within the cells. Interestingly, the subclass of ciliopathies, such as Bardet-Biedle and Alström syndrome, manifest obesity and type II diabetes in human and mouse model systems. Moreover, studies on genetic mouse model system indicate that more ciliary genes affect energy homeostasis through multiple regulatory steps such as central and peripheral actions of leptin and insulin. In this review, we discuss the latest findings in primary cilia and metabolic disorders, and propose the possible interaction between primary cilia and the leptin and insulin signal pathways which might enhance our understanding of the unambiguous link of a cell's antenna to obesity and type II diabetes.

  6. 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.

  7. Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis. (United States)

    Avidor-Reiss, Tomer; Leroux, Michel R


    Most motile and all non-motile (also known as primary) eukaryotic cilia possess microtubule-based axonemes that are assembled at the cell surface to form hair-like or more elaborate compartments endowed with motility and/or signaling functions. Such compartmentalized ciliogenesis depends on the core intraflagellar transport (IFT) machinery and the associated Bardet-Biedl syndrome complex (BBSome) for dynamic delivery of ciliary components. The transition zone (TZ), an ultrastructurally complex barrier or 'gate' at the base of cilia, also contributes to the formation of compartmentalized cilia. Yet, some ciliated protists do not have IFT components and, like some metazoan spermatozoa, use IFT-independent mechanisms to build axonemes exposed to the cytosol. Moreover, various ciliated protists lack TZ components, whereas Drosophila sperm surprisingly requires the activity of dynamically localized TZ proteins for cytosolic ciliogenesis. Here, we discuss the various ways eukaryotes use IFT and/or TZ proteins to generate the wide assortment of compartmentalized and cytosolic cilia observed in nature. Consideration of the different ciliogenesis pathways allows us to propose how three types of cytosol-exposed cilia (primary, secondary and tertiary), including cilia found in the human sperm proximal segment, are likely generated by evolutionary derivations of compartmentalized ciliogenesis.

  8. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. (United States)

    Leigh, Margaret W; Pittman, Jessica E; Carson, Johnny L; Ferkol, Thomas W; Dell, Sharon D; Davis, Stephanie D; Knowles, Michael R; Zariwala, Maimoona A


    Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

  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. Polycystic kidney disease: cell division without a c(l)ue? (United States)

    Simons, M; Walz, G


    Polycystic kidneys are caused by an amazingly broad array of genetic mutations and manipulations. The ciliary hypothesis has evolved as the unifying concept of cystogenesis: cilia, bend by fluid flow, initiate a calcium influx that prevents cyst formation. The integrity of ciliary functions has been linked to the polycystic kidney disease gene products localizing to the cilium or the basal body/centrosome. Until recently, the signals and cellular programs located downstream of the ciliary-mediated calcium flux have remained elusive. Now, several reports point towards a role of the cilium or the basal body/centrosome complex in planar cell polarity, a pathway that orients cell in the plane of a tissue layer. First, Inversin, a protein mutated in nephronophthisis type II was found to act as a switch between the canonical and the noncanonical Wnt cascade, suggesting that beta-catenin/TCF-dependent gene transcription has to be curtailed to allow normal tubular differentiation. Second, heterozygote deletions of Bardet-Biedl syndrome proteins affect neural tube closure and disrupt the cochlear sterociliary bundles, two typical planar cell polarity defects. Third, tubular epithelial cells undergo oriented cell division during tubular elongation, along the axis of the anterior-posterior axis of the nephron. Thus, the cilium or the basal body/centrosome complex may provide the spatial cues to position the centrosome and the mitotic spindle before the next cell division. Failure to communicate this spatial information may condemn the tubular epithelial cells to proliferate and to form cysts.

  11. Unraveling the genetics of human obesity.

    Directory of Open Access Journals (Sweden)

    David M Mutch


    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.

  12. The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. (United States)

    Zlotogora, Joël


    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 ( ). 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.

  13. Small Bowel Review: Part II

    Directory of Open Access Journals (Sweden)

    ABR Thomson


    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.

  14. Small intestinal tophus mimicking tumor

    Directory of Open Access Journals (Sweden)

    Pragya Katoch


    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.

  15. Chlamydial infections in small ruminants. (United States)

    Nietfeld, J C


    Chlamydophila abortus (formerly Chlamydia psittaci) is one of the most important causes of reproductive failure in sheep and goats, especially in intensively managed flocks. The disease is usually manifested as abortion in the last 2 to 3 weeks of gestation, regardless of when the animal was infected. Ewes that abort are resistant to future reproductive failure due to C. abortus, but they become inapparent carriers and persistently shed the organism from their reproductive tracts during estrus. Chlamydophila pecorum is the other member of the genus that affects small ruminants, and it is recognized as a primary cause of keratoconjunctivitis in sheep and goats and of polyarthritis in sheep.

  16. Trust Propagation in Small Worlds

    DEFF Research Database (Denmark)

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


    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...

  17. 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)


    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.

  18. Small signal microwave amplifier design

    CERN Document Server

    Grosch, Theodore


    This book explains techniques and examples for designing stable amplifiers for high-frequency applications in which the signal is small and the amplifier circuit is linear. An in-depth discussion of linear network theory provides the foundation needed to develop actual designs. Examples throughout the book will show you how to apply the knowledge gained in each chapter leading to the complex design of low noise amplifiers. Many exercises at the end of each chapter will help students to practice their skills. The solutions to these design problems are available in an accompanying solutions book

  19. GEF small grants programme - overview

    Energy Technology Data Exchange (ETDEWEB)



    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.

  20. Small Bowel Review: Part I

    Directory of Open Access Journals (Sweden)

    ABR Thomson


    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. Reactions of small molecular systems

    Energy Technology Data Exchange (ETDEWEB)

    Wittig, C. [Univ. of Southern California, Los Angeles, CA (United States)


    This DOE program remains focused on small molecular systems relevant to combustion. Though a number of experimental approaches and machines are available for this research, the authors` activities are centered around the high-n Rydberg time-of-flight (HRTOF) apparatus in this laboratory. One student and one postdoc carry out experiments with this machine and also engage in small intra-group collaborations involving shared equipment. This past year was more productive than the previous two, due to the uninterrupted operation of the HRTOF apparatus. Results were obtained with CH{sub 3}OH, CH{sub 3}SH, Rg-HX complexes, HCOOH, and their deuterated analogs where appropriate. One paper is in print, three have been accepted for publication, and one is under review. Many preliminary results that augur well for the future were obtained with other systems such as HNO{sub 3}, HBr-HI complexes, toluene, etc. Highlights from the past year are presented below that display some of the features of this program.

  2. Small Spacecraft for Planetary Science (United States)

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


    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.

  3. Small Molecules Target Carcinogenic Proteins (United States)

    Gradinaru, Claudiu


    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.

  4. 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


    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...

  5. Small RNA in rice genome

    Institute of Scientific and Technical Information of China (English)

    王凯; 朱小蓬; 钟兰; 陈润生


    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.

  6. 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:; Valek, Vlastimil [Department of Radiology, Faculty Hospital Brno, Jihlavska 20, 62500 Brno (Czech Republic)]. E-mail:; Kysela, Petr [Department of Surgery, Faculty Hospital Brno, Jihlavska 20, 62500 Brno (Czech Republic)]. E-mail:


    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

  7. Small Tank Tetraphenylborate Catalyst Studies

    Energy Technology Data Exchange (ETDEWEB)

    Barnes, M.J.


    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.

  8. Conversations between kingdoms: small RNAs. (United States)

    Weiberg, Arne; Bellinger, Marschal; Jin, Hailing


    Humans, animals, and plants are constantly under attack from pathogens and pests, resulting in severe consequences on global human health and crop production. Small RNA (sRNA)-mediated RNA interference (RNAi) is a conserved regulatory mechanism that is involved in almost all eukaryotic cellular processes, including host immunity and pathogen virulence. Recent evidence supports the significant contribution of sRNAs and RNAi to the communication between hosts and some eukaryotic pathogens, pests, parasites, or symbiotic microorganisms. Mobile silencing signals—most likely sRNAs—are capable of translocating from the host to its interacting organism, and vice versa. In this review, we will provide an overview of sRNA communications between different kingdoms, with a primary focus on the advances in plant-pathogen interaction systems.

  9. Aeration equipment for small depths (United States)

    Sluše, Jan; Pochylý, František


    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.

  10. Minimum Q Electrically Small Antennas

    DEFF Research Database (Denmark)

    Kim, O. S.


    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...... for a multiarm spherical helix antenna confirm the theoretical predictions. For example, a 4-arm spherical helix antenna with a magnetic-coated perfectly electrically conducting core (ka=0.254) exhibits the Q of 0.66 times the Chu lower bound, or 1.25 times the minimum Q....

  11. Immunization against Small Ruminant Lentiviruses

    Directory of Open Access Journals (Sweden)

    Beatriz Amorena


    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.

  12. Small FDIRC Designs and Performances

    CERN Document Server

    Dey, B; Va'vra, J


    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.

  13. Episodic tremor triggers small earthquakes (United States)

    Balcerak, Ernie


    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)

  14. Small Cell Network Topology Comparison

    Directory of Open Access Journals (Sweden)

    Jan Oppolzer


    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.

  15. Disturbances in small bowel motility.

    LENUS (Irish Health Repository)

    Quigley, E M


    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.

  16. Small Scale High Speed Turbomachinery (United States)

    London, Adam P. (Inventor); Droppers, Lloyd J. (Inventor); Lehman, Matthew K. (Inventor); Mehra, Amitav (Inventor)


    A small scale, high speed turbomachine is described, as well as a process for manufacturing the turbomachine. The turbomachine is manufactured by diffusion bonding stacked sheets of metal foil, each of which has been pre-formed to correspond to a cross section of the turbomachine structure. The turbomachines include rotating elements as well as static structures. Using this process, turbomachines may be manufactured with rotating elements that have outer diameters of less than four inches in size, and/or blading heights of less than 0.1 inches. The rotating elements of the turbomachines are capable of rotating at speeds in excess of 150 feet per second. In addition, cooling features may be added internally to blading to facilitate cooling in high temperature operations.

  17. Geophysics of Small Planetary Bodies (United States)

    Asphaug, Erik I.


    As a SETI Institute PI from 1996-1998, Erik Asphaug studied impact and tidal physics and other geophysical processes associated with small (low-gravity) planetary bodies. This work included: a numerical impact simulation linking basaltic achondrite meteorites to asteroid 4 Vesta (Asphaug 1997), which laid the groundwork for an ongoing study of Martian meteorite ejection; cratering and catastrophic evolution of small bodies (with implications for their internal structure; Asphaug et al. 1996); genesis of grooved and degraded terrains in response to impact; maturation of regolith (Asphaug et al. 1997a); and the variation of crater outcome with impact angle, speed, and target structure. Research of impacts into porous, layered and prefractured targets (Asphaug et al. 1997b, 1998a) showed how shape, rheology and structure dramatically affects sizes and velocities of ejecta, and the survivability and impact-modification of comets and asteroids (Asphaug et al. 1998a). As an affiliate of the Galileo SSI Team, the PI studied problems related to cratering, tectonics, and regolith evolution, including an estimate of the impactor flux around Jupiter and the effect of impact on local and regional tectonics (Asphaug et al. 1998b). Other research included tidal breakup modeling (Asphaug and Benz 1996; Schenk et al. 1996), which is leading to a general understanding of the role of tides in planetesimal evolution. As a Guest Computational Investigator for NASA's BPCC/ESS supercomputer testbed, helped graft SPH3D onto an existing tree code tuned for the massively parallel Cray T3E (Olson and Asphaug, in preparation), obtaining a factor xIO00 speedup in code execution time (on 512 cpus). Runs which once took months are now completed in hours.

  18. Small government or big government?

    Directory of Open Access Journals (Sweden)



    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.

  19. 75 FR 66411 - Small Entity Compliance Guide: Women-Owned Small Business Program (United States)


    ... ADMINISTRATION Small Entity Compliance Guide: Women-Owned Small Business Program AGENCY: Small Business...) is announcing the availability of a compliance guide for the Women-Owned Small Business (WOSB... final rule amending 13 CFR part 127, entitled ``The Women-Owned Small Business Federal...

  20. Small Vacuum Energy from Small Equivalence Violation in Scalar Gravity

    CERN Document Server

    Agrawal, Prateek


    The theory of scalar gravity proposed by Nordstr\\"{o}m, and refined by Einstein and Fokker, provides a striking analogy to general relativity. In its modern form, scalar gravity appears as the low-energy effective field theory of the spontaneous breaking of conformal symmetry within a CFT, and is AdS/CFT dual to the original Randall-Sundrum I model, but without a UV brane. Scalar gravity faithfully exhibits several qualitative features of the cosmological constant problem of standard gravity coupled to quantum matter, and the Weinberg no-go theorem can be extended to this case as well. Remarkably, a solution to the scalar gravity cosmological constant problem has been proposed, where the key is a very small violation of the scalar equivalence principle, which can be elegantly formulated as a particular type of deformation of the CFT. In the dual AdS picture this involves implementing Goldberger-Wise radion stabilization where the Goldberger-Wise field is a pseudo-Nambu Goldstone boson. In quantum gravity howe...

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

    Directory of Open Access Journals (Sweden)

    Geoffrey C. Bond


    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.

  2. Lung cancer - non-small cell (United States)

    Cancer - lung - non-small cell; Non-small cell lung cancer; NSCLC; Adenocarcinoma - lung; Squamous cell carcinoma - lung ... Research shows that smoking marijuana may help cancer cells grow. But there is no direct link between ...

  3. Small $x$ Phenomenology - Summary and status 2002

    CERN Document Server

    Andersen, J R; Collins, J; Dokshitzer, Y; Görlich, L; Grindhammer, G; Gustafson, G; Jönsson, L B; Jung, H; Kwiecinski, J; Levin, E; Lipatov, A V; Lönnblad, L; Lublinsky, M; Maul, M; Milcewicz, I; Miu, G; Nowak, G; Sjöstrand, Torbjörn; Stasto, A M; Tîmneanu, N; Turnau, J; Zotov, N P


    A second workshop on small x physics, within the Small x Collaboration, was held in Lund in June 2002 with the aim of over-viewing recent theoretical progress in this area and summarizing the experimental status.

  4. Enabling Technology for Small Satellite Launch Project (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...

  5. How Is Small Intestine Adenocarcinoma Diagnosed? (United States)

    ... use an endoscope. Instead, the patient swallows a capsule (about the size of a large vitamin pill) that has a light and a very small camera. Like any other pill, the capsule goes through the stomach and into the small ...

  6. Beam Coupling Impedances of Small Discontinuities

    CERN Document Server

    Kurennoy, S S


    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.

  7. 77 FR 46909 - Small Business Innovation Research (SBIR) Program and Small Business Technology Transfer (STTR... (United States)


    ... 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... Webinars will be conducted by SBA's Office of Investment and Innovation. For additional information,...

  8. 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


    -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

  9. Mutual Guarantee Institutions and Small Business Finance

    NARCIS (Netherlands)

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


    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

  10. Yes, small firms can commercialize photonics (United States)

    Nelson, Carl W.


    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.

  11. Small GTPases : emerging targets in rheumatoid arthritis

    NARCIS (Netherlands)

    Ferreira de Abreu, J.R.


    The studies provided in this thesis show that modulation of small GTPase function regulates cellular activation and inflammation in RA and animal models of the disease. Small GTPases are therefore emerging targets in RA and further studies should explore the development of novel small GTPase modulat

  12. Small Business Administration Semiannual Regulatory Agenda (United States)


    ... Investments 3245-AF86 468 Implementation of Military Reservist and Veteran Small Business Reauthorization and... MILITARY RESERVIST AND VETERAN SMALL BUSINESS REAUTHORIZATION AND OPPORTUNITY ACT OF 2008 Legal Authority... Military Reservist and Veteran Small Business Reauthorization and Opportunity Act. This Act provides...

  13. [Small fibre neuropathy: knowledge is power].

    NARCIS (Netherlands)

    Hoeijmakers, J.G.; Bakkers, M.; Blom, E.W.; Drenth, J.P.H.; Merkies, I.S.; Faber, C.G.


    Small fibre neuropathy is a neuropathy of the small non-myelinated C-fibres and myelinated Adelta-fibres. Clinically, an isolated small fibre neuropathy is distinguished by sensory and autonomic symptoms, with practically no abnormalities on neurological examination other than possible distorted pai

  14. 27 CFR 19.912 - Small plants. (United States)


    ... 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...

  15. 78 FR 77352 - Small Business Policy (United States)


    ... required by Federal law, NASA's general policy for small business programs is described in 48 CFR part 1819... SPACE ADMINISTRATION 14 CFR Part 1204 RIN 2700-AD97 Small Business Policy AGENCY: National Aeronautics... establishes NASA's small business policy and outlines the delegation of authority to implement this policy,...

  16. New examples of small Polish structures


    Dobrowolski, Jan


    We answer some questions from a paper of Krupi\\'nski by giving suitable examples of small Polish structures. First, we present a class of small Polish group structures without generic elements. Next, we construct a first example of a small non-zero-dimensional Polish $G$-group.

  17. Small is beautiful, and dry

    Institute of Scientific and Technical Information of China (English)

    SHERIDAN; John


    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.

  18. Small and lightweight power amplifiers (United States)

    Shams, Qamar A.; Barnes, Kevin N.; Fox, Robert L.; Moses, Robert W.; Bryant, Robert G.; Robinson, Paul C.; Shirvani, Mir


    The control of u wanted structural vibration is implicit in most of NASA's programs. Currently several approaches to control vibrations in large, lightweight, deployable structures and twin tail aircraft at high angles of attack are being evaluated. The Air Force has been examining a vertical tail buffet load alleviation system that can be integrated onboard an F/A-18 and flown. Previous wind tunnel and full-scale ground tests using distributed actuators have shown that the concept works; however, there is insufficient rom available onboard an F/A-18 to store current state-of- the-art system components such as amplifiers, DC-to-DC converter and a computer for performing vibration suppression. Sensor processing, power electronics, DC-to-DC converters, and control electronics that may be collocated with distributed actuators, are particularly desirable. Such electronic system would obviate the need for complex, centralized, control processing and power distribution components that will eliminate the weight associated with lengthy wiring and cabling networks. Several small and lightweight power amplifiers ranging from 300V pp to 650V pp have been designed using off the shelf components for different applications. In this paper, the design and testing of these amplifiers will be presented under various electrical loads.

  19. Neurological examination in small animals

    Directory of Open Access Journals (Sweden)

    Viktor Paluš


    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.

  20. Mastering Microsoft Windows Small Business Server 2008

    CERN Document Server

    Johnson, Steven


    A complete, winning approach to the number one small business solution. Do you have 75 or fewer users or devices on your small-business network? Find out how to integrate everything you need for your mini-enterprise with Microsoft's new Windows Server 2008 Small Business Server, a custom collection of server and management technologies designed to help small operations run smoothly without a giant IT department. This comprehensive guide shows you how to master all SBS components as well as handle integration with other Microsoft technologies.: Focuses on Windows Server 2008 Small Business Serv

  1. Fast Development Of China's Small Satellite Industry

    Institute of Scientific and Technical Information of China (English)

    Sun Hongjin


    @@ 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.

  2. Large and small photovoltaic powerplants (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.

  3. Resectable pancreatic small cell carcinoma

    Directory of Open Access Journals (Sweden)

    Jordan M. Winter


    Full Text Available Primary pancreatic small cell carcinoma (SCC is rare, with just over 30 cases reported in the literature. Only 7 of these patients underwent surgical resection with a median survival of 6 months. Prognosis of SCC is therefore considered to be poor, and the role of adjuvant therapy is uncertain. Here we report two institutions’ experience with resectable pancreatic SCC. Six patients with pancreatic SCC treated at the Johns Hopkins Hospital (4 patients and the Mayo Clinic (2 patients were identified from prospectively collected pancreatic cancer databases and re-reviewed by pathology. All six patients underwent a pancreaticoduodenectomy. Clinicopathologic data were analyzed, and the literature on pancreatic SCC was reviewed. Median age at diagnosis was 50 years (range 27-60. All six tumors arose in the head of the pancreas. Median tumor size was 3 cm, and all cases had positive lymph nodes except for one patient who only had five nodes sampled. There were no perioperative deaths and three patients had at least one postoperative complication. All six patients received adjuvant therapy, five of whom were given combined modality treatment with radiation, cisplatin, and etoposide. Median survival was 20 months with a range of 9-173 months. The patient who lived for 9 months received chemotherapy only, while the patient who lived for 173 months was given chemoradiation with cisplatin and etoposide and represents the longest reported survival time from pancreatic SCC to date. Pancreatic SCC is an extremely rare form of cancer with a poor prognosis. Patients in this surgical series showed favorable survival rates when compared to prior reports of both resected and unresectable SCC. Cisplatin and etoposide appears to be the preferred chemotherapy regimen, although its efficacy remains uncertain, as does the role of combined modality treatment with radiation.


    Directory of Open Access Journals (Sweden)

    Muhammad Masroor ALAM


    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.

  5. Density of very small meteoroids (United States)

    Kikwaya Eluo, Jean-Baptiste


    Knowing the density of meteoroids helps to determine the physical structure and gives insight into the composition of their parent bodies. The density of meteoroids can provide clues to their origins, whether cometary or asteroidal. Density helps also to characterize the risk meteoroids may pose to artificial satellites.Ceplecha (1968) calculated the density of small meteoroids based on a parameter KB (meteoroid beginning height) and classified them in four categories (A,B,C,D) with densities going from 2700 to 180 kgm-3.Babadzhanov(2002) applied a model based on quasi-continuous fragmentation (QCF) on 413 photographic Super-Schmidt meteors by solely fitting their light curves. Their densities range from 400 to 7800 kgm-3. Bellot Rubio et al. (2002) analyzed the same 413 photographic meteors assuming the single body theory based on meteoroid dynamical properties and found densities ranging from 400 to 4800 kgm-3. A thermal erosion model was used by Borovicka et al. (2007) to analyze, simultaneously, the observed decelerations and light curves of six Draconid meteors. The density was found to be 300 kgm-3, consistent with the fact that the Draconid meteors are porous aggregates of grains associated with the Jupiter-family-comet 21P/Giacobini-Zinner (Jacchia, L.G., 1950).We used the Campbell-Brown and Koschny (2004) model of meteoroid ablation to determine the density of faint meteoroids from the analysis of both observed decelerations and light curves of meteoroids (Kikwaya et al., 2009; Kikwaya et al., 2011). Our work was based on a collection of six and ninety-two sporadic meteors. The grain masses used in the modeling ranged from 10-12 Kg to 10-9 Kg. We computed the orbit of each meteoroid and determined its Tisserand parameter. We found that meteoroids with asteroidal orbits have bulk densities ranging from 3000-5000 kgm-3. Meteoroids consistent with HTC/NIC parents have bulk densities from 400 kgm-3 to 1600 kg m-3. JFC meteoroids were found to have surprisingly

  6. Small Modular Reactors: Institutional Assessment

    Energy Technology Data Exchange (ETDEWEB)

    Joseph Perkowski, Ph.D.


    ? 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

  7. 75 FR 1296 - Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status... (United States)


    ... From the Federal Register Online via the Government Publishing Office SMALL BUSINESS ADMINISTRATION 13 CFR Parts 121 and 124 Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status Determinations AGENCY: U.S. Small Business Administration. ACTION: Notice...

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


    ... / 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:...

  9. 76 FR 8221 - Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status... (United States)


    ... February 11, 2011 Part VII Small Business Administration 13 CFR Parts 121 and 124 Small Business Size Regulations; 8(a) Business Development/Small Disadvantaged Business Status Determinations; Final Rule #0;#0... BUSINESS ADMINISTRATION 13 CFR Parts 121 and 124 RIN 3245-AF53 Small Business Size Regulations;...


    Directory of Open Access Journals (Sweden)

    Slobodan Ivanovic


    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.

  11. Success Essentials of Yiwu Small Commodity Market


    Han, Yu


    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...

  12. Small Package Transportation Companies: An Exploratory Analysis


    Scott Lee WILLIAMS; Nabil RAZZOUK; Victoria SEITZ


    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...

  13. Small wind planning and building successful installations

    CERN Document Server

    Clark, Nolan


    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

  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


    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.


    Directory of Open Access Journals (Sweden)

    Klimova N. V.


    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. Site participation in the small community experiment (United States)

    Holbeck, H. J.; Fellows, M.


    The Small Community Solar Thermal Experiment, planned to test a small, developmental solar thermal power plant in a small community application, is assessed. The baseline plan is to install a field of parabolic dishes with distributed generation to provide 1 MWe of experimental power. Participation by the site proposer is an integral element of the experiment; the proposer will provide a ten-acre site, a connection to the electrical distributional system serving the small community, and various services. In addition to the primary participant, site study efforts may be pursued at as many as five alternative sites.

  17. ATLAS- lowering the muon small wheel

    CERN Multimedia

    CERN Audiovisual Service


    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.

  18. Small hepatic veins Budd-Chiari syndrome. (United States)

    Riggio, Oliviero; Marzano, Chiara; Papa, Alessia; Pasquale, Chiara; Gasperini, Maria Ludovica; Gigante, Antonietta; Valla, Dominique Charles; Plessier, Aurélie; Amoroso, Antonio


    Budd-Chiari syndrome is a rare disorder characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio-caval junction, in the absence of heart failure or constrictive pericarditis. Various imaging modalities are available for investigating the gross hepatic vascular anatomy but there are rare forms of this disease where the obstruction is limited to the small intrahepatic veins, with normal appearance of the large hepatic veins at imaging. In this cases only a liver biopsy can demonstrate the presence of a small vessels outflow block. We report two cases of small hepatic veins Budd-Chiari syndrome.

  19. Small-bowel permeability in collagenous colitis

    DEFF Research Database (Denmark)

    Wildt, Signe; Madsen, Jan L; Rumessen, Jüri J


    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...


    Directory of Open Access Journals (Sweden)

    A. I. Khorev


    Full Text Available Today it became clear that Russia needs not only economic growth, but also economic growth of a certain quality. Re¬gions are not an exception, since they are the most vulnerable to changes in market conditions resource exports. The main economic indicators for larger regions of the country should become entrepreneurs. The main economic indicators for larger regions of the country should become entrepreneurs. Not accidentally retrospective analysis of the evolutionary development of small business shows that the most important role in the economic development of Europe and America have played and continue to play a small business. Results of activity of small businesses are generally positive; the country saw an increase in the main indicators: the number of small enterprises, the average number of employees in small enterprises, turnover of small businesses and investments in fixed assets. The statistics of recent years show a decline of interest in the business population. Number of small businesses created in the last few years there has been a downward trend, while the proportion of surviving for three years after their registration is low. The greatest negative impact on the business affairs of the factors of regulatory and administrative regulation of small business, corruption and bribery of officials and the activities of control and inspection bodies. Addressing these challenges will require proper coordination of regional and local resources in building infrastructure, forming investment mechanisms to support small enterprises, the development of the entrepreneurial potential of the population.

  1. Entrepreneurial Orientation in Small Established Firms

    DEFF Research Database (Denmark)

    Middel, Rick; Lassen, Astrid Heidemann; Laugen, Bjørge Timenes


    While research findings have provided important insights on radical innovation for small start-ups and large established organizations, there is still a gap in knowledge on the ability of the well-established small firm to engage in radical innovation. This paper addresses this gap in knowledge...... by discussing how small established firms exhibit entrepreneurial orientation and how does this influence their involvement in development of radical innovation. Through the case studies it became apparent that the small established firms do embody several characteristics which can be associated both......-taking and autonomy plays a very important role, and that the three dimensions are often intertwined....

  2. Small Drinking Water Systems Research and Development (United States)

    In the United States, there are 152,002 public water systems (PWS) in operation. Of these, 97% are considered small systems under the Safe Drinking Water Act (SDWA)—meaning they serve 10,000 or fewer people. While many of these small systems consistently provide safe, relia...

  3. Small States, Nationalism and Institutional Capacities

    DEFF Research Database (Denmark)

    Campbell, John L.; Hall, John A.


    This paper uses theories of small states (e.g. Katzenstein) and nationalism (e.g. Gellner) to explain why Denmark and Ireland responded to the 2008 financial crisis in different ways. In Denmark, a coordinated market economy with considerable corporatism and state intervention, the private sector...... of nationalism whereas Ireland did not. Lessons for the theories of small states and nationalism are explored...

  4. Small Hydropower in the United States

    Energy Technology Data Exchange (ETDEWEB)

    Hadjerioua, Boualem [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Johnson, Kurt [Telluride Energy, Telluride, CO (United States)


    Small hydropower, defined in this report as hydropower with a generating capacity of up to 10 MW typically built using existing dams, pipelines, and canals has substantial opportunity for growth. Existing small hydropower comprises about 75% of the current US hydropower fleet in terms of number of plants. The economic feasibility of developing new small hydropower projects has substantially improved recently, making small hydropower the type of new hydropower development most likely to occur. In 2013, Congress unanimously approved changes to simplify federal permitting requirements for small hydropower, lowering costs and reducing the amount of time required to receive federal approvals. In 2014, Congress funded a new federal incentive payment program for hydropower, currently worth approximately 1.5 cents/kWh. Federal and state grant and loan programs for small hydropower are becoming available. Pending changes in federal climate policy could benefit all renewable energy sources, including small hydropower. Notwithstanding remaining barriers, development of new small hydropower is expected to accelerate in response to recent policy changes.

  5. Radiation Hardness Assurance (RHA) for Small Missions (United States)

    Campola, Michael J.


    Varied mission life and complexity is growing for small spacecraft. Small missions benefit from detailed hazard definition and evaluation as done in the past. Requirements need to flow from the system down to the parts level and aid system level radiation tolerance. RHA is highlighted with increasing COTS usage.

  6. Analyst Information Precision and Small Earnings Surprises

    NARCIS (Netherlands)

    S. Bissessur; D. Veenman


    Prior research attributes zero and small positive earnings surprises to managers’ incentives for earnings management. In contrast, this study introduces and empirically tests an explanation for zero and small positive earnings surprises based on predictable variation in analyst forecast errors. We a

  7. Epidemics in interconnected small-world networks

    NARCIS (Netherlands)

    Liu, M.; Li, D.; Qin, P.; Liu, C.; Wang, H.; Wang, F.


    Networks can be used to describe the interconnections among individuals, which play an important role in the spread of disease. Although the small-world effect has been found to have a significant impact on epidemics in single networks, the small-world effect on epidemics in interconnected networks

  8. Small Group Multitasking in Literature Classes (United States)

    Baurain, Bradley


    Faced with the challenge of teaching American literature to large, multilevel classes in Vietnam, the writer developed a flexible small group framework called "multitasking". "Multitasking" sets up stable task categories which rotate among small groups from lesson to lesson. This framework enabled students to work cooperatively…

  9. Small cell undifferentiated carcinoma in the epididymis

    Institute of Scientific and Technical Information of China (English)

    CHEN Jia-wei; YUAN Lin; Hu Hong-hui


    @@ Small cell undifferentiated carcinoma is a special type of tumor which is usually found in the lungs. However, it is very rare in extra pulmonary tissues, especially in epididymis. One case of small cell undifferentiated carcinoma in the right epididymis, with partial differentiation to adenocarcinoma and neuroendocrine carcinoma is reported as follows.

  10. Astrophysics with small satellites in Scandinavia

    DEFF Research Database (Denmark)

    Lund, Niels


    The small-satellites activities in the Scandinavian countries are briefly surveyed with emphasis on astrophysics research. (C) 2002 COSPAR. Published by Elsevier Science Ltd. All rights reserved.......The small-satellites activities in the Scandinavian countries are briefly surveyed with emphasis on astrophysics research. (C) 2002 COSPAR. Published by Elsevier Science Ltd. All rights reserved....

  11. E-Learning in Small Organisations (United States)

    Sambrook, Sally


    This paper focuses on the existing and potential role of electronic learning in small and medium-sized organisations (SMEs). Innovations in information and communication technologies (ICTs) could create new forms of learning, particularly appealing to small organisations, to overcome traditional barriers such as lack of financial resources, time,…

  12. Clinical radiology of the small intestine

    Energy Technology Data Exchange (ETDEWEB)

    Herlinger, H.; Maglinte, D.


    This book discussed embryology, anatomy, physiology, and immunology of the small intestine. Radiographic procedures in the small intestine especially enterolysis are presented. Focus is on the role of other types of imaging techniques including sonography, computed tomography, radionuclide imaging, angiography, biopsy, and enteroscopy.

  13. Allosteric small-molecule kinase inhibitors

    DEFF Research Database (Denmark)

    Wu, Peng; Clausen, Mads Hartvig; Nielsen, Thomas E.


    current barriers of kinase inhibitors, including poor selectivity and emergence of drug resistance. In spite of the small number of identified allosteric inhibitors in comparison with that of inhibitors targeting the ATP pocket, encouraging results, such as the FDA-approval of the first small...

  14. Governance of ecosystem services on small islands

    NARCIS (Netherlands)

    Polman, Nico; Reinhard, Stijn; Bets, van L.K.J.; Kuhlman, Tom


    Natural ecosystems provide an attractive focus for tourism on small islands. However, at the same time tourism and other human actions can be detrimental to these ecosystems especially because governance of the ecosystem may be difficult due to the limited resilience of small island ecosystems. I

  15. Small Group Multitasking in Literature Classes (United States)

    Baurain, Bradley


    Faced with the challenge of teaching American literature to large, multilevel classes in Vietnam, the writer developed a flexible small group framework called "multitasking". "Multitasking" sets up stable task categories which rotate among small groups from lesson to lesson. This framework enabled students to work cooperatively in a variety of…

  16. Problems of marketing in small innovative enterprises.


    Sidorchuk, Roman


    Article is devoted to the continuation of the study hypotheses on the relationship between marketing and life cycle of a small business. Some results of studies of small innovative companies in the Russian Federation: Moscow and St. Petersburg, Moscow, Novgorod, Novosibirsk, Sverdlovsk, Tomsk, Chelyabinsk Region and the Krasnodar Territory. Some results of the analysis, showing the feature in the marketing of innovative enterprises.

  17. Small Molecules in the Cone Snail Arsenal. (United States)

    Neves, Jorge L B; Lin, Zhenjian; Imperial, Julita S; Antunes, Agostinho; Vasconcelos, Vitor; Olivera, Baldomero M; Schmidt, Eric W


    Cone snails are renowned for producing peptide-based venom, containing conopeptides and conotoxins, to capture their prey. A novel small-molecule guanine derivative with unprecedented features, genuanine, was isolated from the venom of two cone snail species. Genuanine causes paralysis in mice, indicating that small molecules and not just polypeptides may contribute to the activity of cone snail venom.

  18. Morphometric Characterization of Small Cell Lymphocytic Lymphoma

    Directory of Open Access Journals (Sweden)

    Chisoi Anca


    Full Text Available The morphometry in histopathology is used to characterize cell populations belonging to different tissues and to identify differences in their parameters with prognostic implications. To achieve morphometric examination were selected 6 of 24 cases identified as small cell lymphocytic lymphoma. For each case analysis was done on five fields, for each field measuring the parameters of 20 cells. The studied parameters were for cytoplasm: cytoplasmic area, maximum and minimum cytoplasmic diameter, cytoplasmic perimeter; for nucleus were measured: nuclear area, minimum and maximum nuclear diameter, nuclear perimeter, nuclear contour index, nuclear ellipticity index, nuclear irregularity index. Also the nucleocytoplasmic ratio was calculated in all studied cases. Small cell lymphocytic lymphoma is characterized in morphometric terms having a small cytoplasmic area (average 29.206 and also a small nuclear area (mean 28.939 having a nucleo-cytoplasmic ratio appearance suggestive for adult lymphocyte. A nuclear contour index small value (3.946, ellipticity index value also small (3.521 and small nuclear irregularity index (3.965. Standard deviations, in any of the studied morphometric categories, is around or below 1 suggesting monomorphic cell appearance. These morphometric and microscopic features characterized mainly by a small population of adult lymphocytes, monomorphic, with rounded hipercromic nuclei, dense chromatin, support the framing into indolent lymphoma group in terms of clinical outcome.

  19. XP in a Small Software Development Business

    DEFF Research Database (Denmark)

    Babb, Jeffry; Hoda, Rashina; Nørbjerg, Jacob


    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...

  20. The Small Book Press: A Cultural Essential. (United States)

    Henderson, Bill


    Discussion of small literary book publishers notes works of small-press authors (Thomas Paine, Washington Irving, Walt Whitman, Mark Twain, Upton Sinclair, Anais Nin); today's outstanding presses (Creative Arts Book Company, Persea Books, Full Court Press, Reed and Cannon Company, Tuumba Books); and role of little magazines. Thirty-seven…

  1. Small-bowel permeability in collagenous colitis

    DEFF Research Database (Denmark)

    Wildt, Signe; Madsen, Jan L; Rumessen, Jüri J


    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-intestinal biopsies...

  2. A High-performance Small Signal Amplifier

    Institute of Scientific and Technical Information of China (English)


    According to questions in the design of high quality small signal amplifier, this paper gave a new-type high performance small signal amplifier. The paper selected the operational amplifier of ICL Company and designed a new-type circuit with simple, low cost and excellent performance.

  3. Exploring Small Animal Care. Teacher's Guide. (United States)

    Livesey, Dennis W.

    This course guide in small animal care is designed to give students seeking employment in veterinary hospitals, kennels, or pet shops an opportunity to (1) develop basic skills in small animal handling, sanitation of housing, and nutrition, (2) acquire skills in dog and cat grooming, including shop operation, (3) develop attitudes which contribute…

  4. Rural and Small Town School Counselors. (United States)

    Pearson, Richard E.; Sutton, John M., Jr.


    Group discussions and interviews with counselors in small and rural schools in Maine and upstate New York focused on the advantages and disadvantages of working in small schools, role generalization and confusion experienced by school counselors, professional autonomy and accountability, and the need for relevant inservice training. (Contains 33…

  5. "small ACCELERATORS" 24 May - 2 June 2005

    CERN Multimedia


    CERN Accelerator School and Kernfysisch Versneller Instituut (KVI) Groningen, the Netherlands announce a course on "Small Accelerators", Hotel Golden Tulip Drenthe, Zeegse, the Netherlands, 24 May - 2 June 2005. This specialised course is dedicated to the physics and the main applications of small accelerators. The course will review the different accelerator types as well as their specificities in terms of accelerator physics.

  6. Gestures: Silent Scaffolding within Small Groups (United States)

    Carter, Glenda; Wiebe, Eric N.; Reid-Griffin, Angela


    This paper describes how gestures are used to enhance scaffolding that occurs in small group settings. Sixth and eighth grade students participated in an elective science course focused on earth science concepts with a substantial spatial visualization component. Gestures that students used in small group discussions were analyzed and four…

  7. Gravity Compensation Technique Uses Small dc Motor (United States)

    Hollow, Richard


    Small dc servomotor powered by simple constant-current source and with suitable gearing used to cancel effect of gravity upon load. Lead-screw positioning system has load counterbalanced by small supplementary motor powered by constant current source. Motor lighter and more compact alternative to counterbalance. Used in variety of mechanical systems where load positioned or accelerated in vertical plane.

  8. Environmental Education and Small Business Environmental Activity (United States)

    Redmond, Janice; Walker, Beth


    Environmental education is seen as a key driver of small business environmental management, yet little is known about the activities small business owner-managers are undertaking to reduce their environmental impact or in what areas they may need education. Therefore, research that can identify environmental management activities being undertaken…

  9. Arteriovenous Malformation Detected by Small Bowel Endoscopy

    Directory of Open Access Journals (Sweden)

    Takaaki Fujii


    Full Text Available Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine.

  10. Generically large nongaussianity in small multifield inflation

    Energy Technology Data Exchange (ETDEWEB)

    Bramante, Joseph [Department of Physics, University of Notre Dame,Notre Dame, IN, 46556 (United States)


    If forthcoming measurements of cosmic photon polarization restrict the primordial tensor-to-scalar ratio to r<0.01, small field inflation will be a principal candidate for the origin of the universe. Here we show that small multifield inflation, without the hybrid mechanism, typically results in large squeezed nongaussianity. Small multifield potentials contain multiple flat field directions, often identified with the gauge invariant field directions in supersymmetric potentials. We find that unless these field directions have equal slopes, large nongaussianity arises. After identifying relevant differences between large and small two-field potentials, we demonstrate that the latter naturally fulfill the Byrnes-Choi-Hall large nongaussianity conditions. Computations of the primordial power spectrum, spectral index, and squeezed bispectrum, reveal that small two-field models which otherwise match observed primordial perturbations, produce excludably large nongaussianity if the inflatons’ field directions have unequal slopes.

  11. Research progress of cerebral small vessel disease

    Directory of Open Access Journals (Sweden)

    Jun-dong JIA


    Full Text Available Cerebral small vessel disease refers to a group of pathological processes with various etiologies that affect small arteries, arterioles, venules, and capillaries of the brain. Recently, the researches of cerebral small vessel disease have got initial progressions, and a definite diagnosis of this disease is comfirmed by biopsy. Given the pathological material is difficult to obtain, clinicians should pay more attention to the imaging features and clinical manifestations. Correct understanding of imaging and clinical manifestations contributes to the early identification of cerebral small vessel disease. Herein, an overview is provided on the present status, common imaging features, pathogenesis, clinical manifestations and treatment of cerebral small vessel disease. DOI: 10.3969/j.issn.1672-6731.2015.02.003

  12. Small-x phenomenology - Summary of the 3rd Lund small-x workshop in 2004

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, J.R. [University of Cambridge, Cavendish Laboratory, Cambridge (United Kingdom); Baranov, S. [Lebedev Institute of Physics, Moscow (Russian Federation); Bartels, J.; Chachamis, G.; Kutak, K. [Hamburg University, Hamburg (Germany); Barnafoldi, G.G.; Levai, P. [KFKI RMKI, Budapest (Hungary); Collins, J. [Penn State Univ., 104 Davey Lab., University Park, PA (United States); Grindhammer, G. [Max Planck Institut, Munich (Germany); Gustafson, G.; Loennblad, L.; Sjoedahl, M. [Lund University, Department of Theoretical Physics, Lund (Sweden); Hansson, M.; Joensson, L.; Knutsson, A. [Lund University, Department of Physics, Lund (Sweden); Ingelman, G. [University of Uppsala, Uppsala (Sweden); Jung, H.; Kowalski, H.; Risler, C. [DESY, Hamburg (Germany); Kyrieleis, A. [University of Manchester, Manchester (United Kingdom); Lipatov, A.; Zotov, N. [Moscow State University, Skobeltsyn Institute of Nuclear Physics, Moscow (Russian Federation); Lublinsky, M. [University of Connecticut, Storrs (United States); Marchesini, G. [University of Milan-Bicocca and INFN, Sezione di Milano-Bicocca, Milano (Italy); Milcewicz, I.; Turnau, J. [H. Niewodniczanski Institute of Nuclear Physics, Cracow (Poland); Sabio-Vera, A. [CERN, Geneva (Switzerland); Stasto, A. [Brookhaven National Lab., Physics Department, Upton, NY (United States); Watt, G. [IPPP, Durham (United Kingdom)]|[DESY, Hamburg (Germany)


    A third workshop on small-x physics, within the Small-x Collaboration, was held in Hamburg in May 2004 with the aim of overviewing recent theoretical progress in this area and summarizing the experimental status. (orig.)

  13. Optimisation of Investment Resources at Small Enterprises

    Directory of Open Access Journals (Sweden)

    Shvets Iryna B.


    Full Text Available The goal of the article lies in the study of the process of optimisation of the structure of investment resources, development of criteria and stages of optimisation of volumes of investment resources for small enterprises by types of economic activity. The article characterises the process of transformation of investment resources into assets and liabilities of the balances of small enterprises and conducts calculation of the structure of sources of formation of investment resources in Ukraine at small enterprises by types of economic activity in 2011. On the basis of the conducted analysis of the structure of investment resources of small enterprises the article forms main groups of criteria of optimisation in the context of individual small enterprises by types of economic activity. The article offers an algorithm and step-by-step scheme of optimisation of investment resources at small enterprises in the form of a multi-stage process of management of investment resources in the context of increase of their mobility and rate of transformation of existing resources into investments. The prospect of further studies in this direction is development of a structural and logic scheme of optimisation of volumes of investment resources at small enterprises.

  14. The Ethical Dilemma in Globalizing Small Businesses

    Directory of Open Access Journals (Sweden)

    Jacob C. Nganga


    Full Text Available This paper is largely a theoretical exposition of ethical challenges that stifle the participation of smallbusinesses in the global value chains with particular reference to businesses in developing countries. Smallbusinessclusters in developing economies, remain locked in low-quality products and low-income markets.With little innovation, small business lack capacity to produce goods that can attract foreign demand. Yet,small enterprises must provide productive employment for an increasing number of job-seekers in thesecountries. Innovation growth in small enterprises is normally limited to apprenticeship process and as such,results in a dead-end to progress of indigenous technology. To promote creation and growth of small business,efforts are required to put the small business clusters in a global value chain as this enhances possibilities ofnew market avenues and as well as benching market indigenous innovative efforts to international standards.Exposure of small business to global market also encourages networks formations which are conduits of skillsfor quality improvement and valuation of products from the sector. However, the quest for improving theparticipation and market share of small business is faced with challenges that stem from the way the process ofglobalization has taken place over time. To overcome these globalization challenges, policy makers mustcontend with ethical issues that require to be addressed through consultative efforts at international arena.

  15. 47 CFR 101.1107 - Bidding credits for very small businesses, small businesses and entrepreneurs. (United States)


    ..., small businesses and entrepreneurs. 101.1107 Section 101.1107 Telecommunication FEDERAL COMMUNICATIONS... Procedures for LMDS § 101.1107 Bidding credits for very small businesses, small businesses and entrepreneurs.... (c) A winning bidder that qualifies as an entrepreneur, as defined in § 101.1112, or a consortium...

  16. Thinking Big about Getting Small: An Ideological Genealogy of Small-School Reform (United States)

    Kafka, Judith


    Background: Support for small schools, and specifically for the creation of small, autonomous schools of choice, has grown considerably in the past decade--particularly in the context of urban schooling. Funded by private and public monies, small-school initiatives have been implemented in most of the nation's city school districts and have become…

  17. Great governance in small societies : Effective public sector practices in small-scale democracies

    NARCIS (Netherlands)

    Douglas, Scott


    Every government faces its own particular challenges. For a small-scale democracy, the size of its society might be the obvious limitation. Most discussion about small societies thus focuses on the governance failures caused by this small size. This book argues that it would be more useful to explor

  18. Estimation of Poverty in Small Areas

    Directory of Open Access Journals (Sweden)

    Agne Bikauskaite


    Full Text Available A qualitative techniques of poverty estimation is needed to better implement, monitor and determine national areas where support is most required. The problem of small area estimation (SAE is the production of reliable estimates in areas with small samples. The precision of estimates in strata deteriorates (i.e. the precision decreases when the standard deviation increases, if the sample size is smaller. In these cases traditional direct estimators may be not precise and therefore pointless. Currently there are many indirect methods for SAE. The purpose of this paper is to analyze several diff erent types of techniques which produce small area estimates of poverty.

  19. Small scale smugglers in Tamaulipas, Mexico


    Simón Pedro Izcara Palacios


    Small-scale part-time smugglers are embedded in the migrant community itself. They work in the United States for several months before returning to their place of origin to organize, with the help of several assistants, a small group of migrants, who are transported where the coyotes themselves are going. This article analyses small-scale smuggling carried out by Tamaulipas' polleros, who transport to the United States, one or a few times per year, migrants from their hometowns or other neigh...

  20. An evaluation of small businesses in Iran

    Directory of Open Access Journals (Sweden)

    Seyed Mohammad karimi


    Full Text Available As one of the most important and fundamental issues, employment is an indicator of development and welfare in any country. Due to the rapid growth of population over the past decades in Iran, investigating unemployment and the obstacles hindering employment is of paramount importance. In this study, a questionnaire was used and a group of experts were interviewed in order to identify four groups of legal, economic, social as well as individual factors, which could improve or hinder the growth of small businesses and self-employment. In this paper, having determined the factors influencing the expansion or downsizing the small businesses, the entrepreneurs, agents supporting small businesses, and the members of employment groups in Mazandaran Province, Iran rated the four categories. Finally, the most important growth factors or challenges faced by small businesses from the three aforementioned perspectives were compared.

  1. Magnetic resonance imaging of the small bowel

    Energy Technology Data Exchange (ETDEWEB)

    Deeab, Dhafer A., E-mail: [Department of Radiology, St Mary' s Campus, Imperial College NHS Trust, London (United Kingdom); Dick, Elizabeth; Sergot, Antoni A.; Sundblon, Lauren; Gedroyc, Wady [Department of Radiology, St Mary' s Campus, Imperial College NHS Trust, London (United Kingdom)


    Magnetic Resonance Imaging of the Small Bowel (MR Enterography, or MRE) is becoming increasingly popular as the first imaging modality for the diagnosis and follow-up of small bowel diseases. The inherent advantages of MRI, including excellent soft tissue contrast, multiplanar capability and lack of ionising radiation are well known. In addition, the use of luminal contrast agents in MRE has the added advantage of demonstrating the lumen and the wall directly, something not possible to achieve with conventional small bowel barium follow-through imaging. This review will highlight recent technical advances to this low cost, simple technique which is easily achievable in all hospitals. It will also review normal and abnormal radiological findings and highlight the value of this technique to both the clinician and patient alike in the investigation of small bowel disease.

  2. Small animal imaging. Basics and practical guide

    Energy Technology Data Exchange (ETDEWEB)

    Kiessling, Fabian [Aachen Univ. (RWTH) (Germany). Chair of Experimental Molecular Imaging; Pichler, Bernd J. (eds.) [Tuebingen Univ. (Germany). Lab. for Preclinical Imaging and Imaging Technology of the Werner Siemens-Foundation


    Small animal imaging has been recognized as an important tool in preclinical research. Nevertheless, the results of non-invasive imaging are often disappointing owing to choice of a suboptimal imaging modality and/or shortcomings in study design, experimental setup, and data evaluation. This textbook is a practical guide to the use of non-invasive imaging in preclinical research. Each of the available imaging modalities is discussed in detail, with the assistance of numerous informative illustrations. In addition, many useful hints are provided on the installation of a small animal unit, study planning, animal handling, and the cost-effective performance of small animal imaging. Cross-calibration methods, data postprocessing, and special imaging applications are also considered in depth. This is the first book to cover all the practical basics in small animal imaging, and it will prove an invaluable aid for researchers, students, and technicians. (orig.)

  3. Infectious Reproductive Diseases of Small Ruminants


    Bagley, Clell V.


    Several diseases which infect small ruminants result in abortion or reduced fertility and some may also infect humans (zoonotic diseases). Each of the diseases listed below will be briefly outlined. Those marked with an asterisk (*) may also cause human disease.

  4. Small-$x$ resummation from HELL

    CERN Document Server

    Bonvini, Marco; Peraro, Tiziano


    Small-$x$ logarithmic enhancements arising from high-energy gluon emissions affect both the evolution of collinearly-factorized parton densities and partonic coefficient functions. With the higher collider energy reached by the LHC, the prospect of a future high-energy collider, and the recent deep-inelastic scattering (DIS) results at small-$x$ from HERA, providing phenomenological tools for performing small-$x$ resummation has become of great relevance. In this paper we discuss a framework to perform small-$x$ resummation for both parton evolution and partonic coefficient functions and we describe its implementation in a computer code named High-Energy Large Logarithms (HELL). We present resummed and matched results for the DGLAP splitting functions and, as a proof of principle, for the massless structure functions in DIS.

  5. Hidden layers of human small RNAs

    DEFF Research Database (Denmark)

    Kawaji, Hideya; Nakamura, Mari; Takahashi, Yukari;


    shows that well-characterized non-coding RNA, such as tRNA, snoRNA, and snRNA are cleaved at sites specific to the class of ncRNA. In particular, tRNA cleavage is regulated depending on tRNA type and tissue expression. We also found small RNAs mapped to genomic regions that are transcribed in both...... small RNA have focused on miRNA and/or siRNA rather than on the exploration of additional classes of RNAs. RESULTS: Here, we explored human small RNAs by unbiased sequencing of RNAs with sizes of 19-40 nt. We provide substantial evidences for the existence of independent classes of small RNAs. Our data...

  6. Multiband small zeroth-order metamaterial antenna (United States)

    Dakhli, Nabil; Choubani, Fethi; David, Jacques


    A novel resonant metamaterial antenna based on the Composite Right/Left-Handed (CRLH) transmission line (TL) model is presented. The proposed small antenna is designed to operate simultaneously over multiple wireless services (UMTS-WLAN-WIMAX)

  7. Small-boat Cetacean Surveys Database (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The database contains multiple spreadsheets that hold data collected during each small-boat survey project conducted by the PIFSC CRP. This includes a summary of the...

  8. The ubiquity of small-world networks

    CERN Document Server

    Telesford, Qawi K; Hayasaka, Satoru; Burdette, Jonathan H; Laurienti, Paul J


    Small-world networks by Watts and Strogatz are a class of networks that are highly clustered, like regular lattices, yet have small characteristic path lengths, like random graphs. These characteristics result in networks with unique properties of regional specialization with efficient information transfer. Social networks are intuitive examples of this organization with cliques or clusters of friends being interconnected, but each person is really only 5-6 people away from anyone else. While this qualitative definition has prevailed in network science theory, in application, the standard quantitative application is to compare path length (a surrogate measure of distributed processing) and clustering (a surrogate measure of regional specialization) to an equivalent random network. It is demonstrated here that comparing network clustering to that of a random network can result in aberrant findings and networks once thought to exhibit small-world properties may not. We propose a new small-world metric, {\\omega}...

  9. Small-x resummation from HELL

    Energy Technology Data Exchange (ETDEWEB)

    Bonvini, Marco [University of Oxford, Rudolf Peierls Centre for Theoretical Physics, Oxford, England (United Kingdom); Marzani, Simone [University at Buffalo, The State University of New York, Buffalo, NY (United States); Peraro, Tiziano [The University of Edinburgh, Higgs Centre for Theoretical Physics, School of Physics and Astronomy, Edinburgh, Scotland (United Kingdom)


    Small-x logarithmic enhancements arising from high-energy gluon emissions affect both the evolution of collinearly-factorized parton densities and partonic coefficient functions. With the higher collider energy reached by the LHC, the prospect of a future high-energy collider, and the recent deep-inelastic scattering (DIS) results at small-x from HERA, providing phenomenological tools for performing small-x resummation has become of great relevance. In this paper we discuss a framework to perform small-x resummation for both parton evolution and partonic coefficient functions and we describe its implementation in a computer code named High-Energy Large Logarithms (HELL). We present resummed and matched results for the DGLAP splitting functions and, as a proof of principle, for the massless structure functions in DIS. Furthermore, we discuss the uncertainty from subleading terms on our results. (orig.)

  10. Chignik small boat harbor planning aid report (United States)

    US Fish and Wildlife Service, Department of the Interior — Unless additional salmon use data would indicate otherwise, harbor site 3 is considered the environmentally preferred alternative for construction of a small...

  11. 76 FR 28623 - Small Business Week, 2011 (United States)


    ... until they see it through. From the family businesses that anchor Main Street to the high-tech startups that keep America on the cutting edge, small businesses are the backbone of our economy and...

  12. 75 FR 29393 - Small Business Week, 2010 (United States)


    ... tech start-ups, countless small businesses have been forced to lay off employees or shut their doors... communities, cutting-edge technology, and an American economy that can compete and win in the 21st...

  13. Diverticulosis of the small bowel with Diverticulitis

    Energy Technology Data Exchange (ETDEWEB)

    Barner, L.; Doldt, H.; Strecker, E.P.


    Case report of diverticulosis of the small bowel complicated by diverticulitis. Radiography is the method of choice to demonstrate this finding preoperatively. This entity should be included in the differential diagnosis of right lower quadrant abdominal pecin.

  14. Cooperative and networking strategies in small business

    CERN Document Server

    Ferreira, João


    The book aims to collect the most recent research and best practices in the cooperative and networking small business field identifying new theoretical models and describing the relationship between cooperation and networks in the small business strategy context. It examines different concepts and analytical techniques better understand the links between cooperative strategies and networks in small business. It also studies the existing economic conditions of network and strategic implications to small business from the point of view of their internal and external consistency. Cooperation and networks is a fashionable topic. It is receiving increasing attention in popular management publications, as well as specialized academic journals. Cooperation between firms and industries is a means of leveraging and aggregating knowledge also generating direct benefits in terms of innovation, productivity and competitiveness. Various options and decisions made within the framework of strategic alliances may be identifi...

  15. Genetics Home Reference: small fiber neuropathy (United States)

    ... particular ethnic groups? Genetic Changes Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy . ... pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit ...

  16. Composition of Solar System Small Bodies

    CERN Document Server

    Vernazza, Pierre


    The aim of the chapter is to summarize our understanding of the compositional distribution across the different reservoirs of small bodies (main belt asteroids, giant planet trojans, irregular satellites of the giant planets, TNOs, comets). We then use this information to i) discuss current dynamical models (Nice and Grand Tack models), ii) mention possible caveats in these models if any, and iii) draw a preliminary version of the primordial compositional gradient across the solar system before planetary migrations occured. Note that the composition of both planetary satellites (the regular ones) and that of the transient populations (NEOs, centaurs) is not discussed here. We strictly focus on the composition of the main reservoirs of small bodies. The manuscript's objective is to provide a global and synthetic view of small bodies' compositions rather than a very detailed one, for specific reviews regarding the composition of small bodies, see papers by Burbine (2014) for asteroids, Emery et al. (2015) for J...

  17. Micro Resistojet for Small Satellites Project (United States)

    National Aeronautics and Space Administration — Micro-resistojets offer an excellent combination of simplicity, performance and wet system mass for small satellites (<100 kg, <50 watts) requiring mN level...

  18. Make Projects Small Form Factor PCs

    CERN Document Server

    Wessels, Duane


    Shoebox sized and smaller, small-form-factor PCs can pack as much computing muscle as a full-sized desktop computer. They consumer less power, have few or no moving parts, and are very quiet. Whether you plan to use one as a standalone PC or want to embed it in your next hacking project, a small-form-factor PC can be a lot of fun to build. Make Projects: Small Form Factor PCs is the only book available that shows you how to build small-form-factor PCs -- from kits and from scratch -- that are more interesting and more personalized than what a full-sized PC can give you. Included in the book

  19. Small Satellite Transceiver for Launch Vehicles Project (United States)

    National Aeronautics and Space Administration — NAL Research Corporation proposes to develop a small, light-weight, low-cost transceivers capable of establishing satellite communications links for telemetry and...

  20. JPL Small Body Database Search Engine (United States)

    National Aeronautics and Space Administration — Use this search engine to generate custom tables of orbital and/or physical parameters for all asteroids and comets (or a specified sub-set) in our small-body...