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Sample records for pontine capillary telangiectasia

  1. CT in pontine hemorrhage

    International Nuclear Information System (INIS)

    Iwasaki, Yasuo; Kinoshita, Masao; Ikeda, Ken; Sasaki, Atsushi.

    1988-01-01

    The clinical and CT findings in 10 patients with primary pontine hemorrhage were reviewed. All patients were hypertensive. Pontine hemorrhage can be divided into 3 groups from the viewpoint of location of hematomas. These are the tegmentobasilar type, tegmental type and basilar type. The tegmentobasilar type produces characteristic clinical features for pontine hemorrhage and poor prognosis, otherwise, another two types produce atypical clinical features for pontine hemorrhage and good prognosis. (author)

  2. Central Pontine Myelinolysis

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs ... Experts estimate that 10 percent of those with CPM will also have areas of EPM. The initial ...

  3. Hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Vase, P; Green, A

    1999-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by telangiectatic lesions. The disease manifestations are variable and include epistaxis, gastrointestinal bleeding, pulmonary arteriovenous malformations and cerebral arteriovenous malformations. Early...

  4. Dysphonia and vocal fold telangiectasia in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Chang, Joseph; Yung, Katherine C

    2014-11-01

    This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia (HHT). Case report of a 40-year-old man with HHT presenting with 2 years of worsening hoarseness. Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias, and plica ventricular is suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation. Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. © The Author(s) 2014.

  5. Ataxia telangiectasia: a review

    Directory of Open Access Journals (Sweden)

    Cynthia Rothblum-Oviatt

    2016-11-01

    Full Text Available Abstract Definition of the disease Ataxia telangiectasia (A-T is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. Epidemiology The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. Clinical description A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations. Etiology A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress. Diagnosis The diagnosis of A-T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities (e.g. IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels. Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the

  6. Hashimoto thyroiditis associated with ataxia telangiectasia.

    Science.gov (United States)

    Patiroglu, Turkan; Gungor, Hatice Eke; Unal, Ekrem; Kurtoglu, Selim; Yikilmaz, Ali; Patiroglu, Tahir

    2012-01-01

    Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers. In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia. Although there were reports of positive autoimmune thyroid antibodies associated with ataxia telangiectasia, to our knowledge, we report the first cases of nodular Hashimoto thyroiditis in two patients with ataxia telangiectasia in the English medical literature. These cases illustrate that despite the rarity of nodular Hashimoto thyroiditis associated with ataxia telangiectasia, physicians should be aware of this possibility. Furthermore, thyroid examination of patient with ataxia telangiectasia is recommended for early diagnosis.

  7. Clinical features of Hereditary Haemorrhagic Telangiectasia

    NARCIS (Netherlands)

    Hosman, A.E.

    2017-01-01

    Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease (ROW), is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia, arteriovenous malformations and recurrent spontaneous epistaxis (nosebleeds). Most cases

  8. Vertical transmission of macular telangiectasia type 2.

    Science.gov (United States)

    Delaere, Lien; Spielberg, Leigh; Leys, Anita M

    2012-01-01

    The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families. In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography. Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2. All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia. She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.

  9. Asymptomatic pontine and extra-pontine lesions in a patient with end-stage renal disease

    Directory of Open Access Journals (Sweden)

    Raj Kanwar Yadav

    2016-01-01

    Full Text Available Osmotic demyelination syndrome leading to central pontine/extra-pontine myelinolysis (CPM/EPM occurs mainly in patients with history of alcohol abuse, malnourishment, following liver transplantation and less commonly, in association with other systemic diseases. Asymptomatic CPM/EPM is rare. Patients with end-stage renal disease (ESRD who develop CPM/EPM are usually symptomatic with florid neurologic manifestations. Herein, we present a patient with ESRD on maintenance hemodialysis who was incidentally detected to have pontine and extra-pontine lesions suggestive of myelinolysis without any neurologic signs or symptoms.

  10. Radiosensitivity in ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Lavin, M.F.; Khanna, K.K.; Watters, D.

    1998-01-01

    Full text: Radiosensitivity is a major hallmark of the human genetic disorder ataxia-telangiectasia. This hypersensitivity to ionizing radiation has been demonstrated in vitro after exposure of patients to therapeutic thought to be the major factor contculture. Clearly an understanding of the nature of the molecular defect in ataxia-telangiectasia will be of considerable assistance in delineating additional pathways that determine cellular radiosensitivity/radioresistance. Furthermore, since patients with this syndrome are also predisposed to developing a number of leukaemias and lymphomas the possible connection between radiosensitivity and cancer predisposition is of interest. Now that the gene (ATM) responsible for this genetic disease has been cloned and identified, progress is being made in determining the role of the ATM protein in mediating the effects of cellular exposure to ionizing radiation and other forms of redox stress. Proteins such as the product of the tumour suppressor gene p53 and the proto-oncogene c-Abl (a protein tyrosine kinase) have been shown to interact with ATM. Since several intermediate steps in both the p53 and c-Abl pathways, activated by ionizing radiation, are known it will be possible to map the position of ATM in these pathways and describe its mechanism of action. What are the clinical implications of understanding the molecular basis of the defect in ataxia-telangiectasia? As outlined above since radiosensitivity is a universal characteristic of A-T understanding the mechanism of action of ATM will provide additional information or radiation signalling in human cells. With this information it may be possible to sensitize tumour cells to radiation and thus increase the therapeutic benefit of radiotherapy. This might involve the use of small molecules that would interfere with the normal ATM controlled pathways and thus sensitize cells to radiation or alternatively it might involve the efficient introduction of ATM anti-sense c

  11. Radiosensitivity in ataxia-telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Lavin, M.F. [Royal Brisbane Hospital, QLD (Australia). Queensland Institute of Medical Research and The Department of Surgery; Khanna, K.K.; Watters, D. [Royal Brisbane Hospital, QLD (Australia). Queensland Institute of Medical Research

    1998-12-31

    Full text: Radiosensitivity is a major hallmark of the human genetic disorder ataxia-telangiectasia. This hypersensitivity to ionizing radiation has been demonstrated in vitro after exposure of patients to therapeutic thought to be the major factor contculture. Clearly an understanding of the nature of the molecular defect in ataxia-telangiectasia will be of considerable assistance in delineating additional pathways that determine cellular radiosensitivity/radioresistance. Furthermore, since patients with this syndrome are also predisposed to developing a number of leukaemias and lymphomas the possible connection between radiosensitivity and cancer predisposition is of interest. Now that the gene (ATM) responsible for this genetic disease has been cloned and identified, progress is being made in determining the role of the ATM protein in mediating the effects of cellular exposure to ionizing radiation and other forms of redox stress. Proteins such as the product of the tumour suppressor gene p53 and the proto-oncogene c-Abl (a protein tyrosine kinase) have been shown to interact with ATM. Since several intermediate steps in both the p53 and c-Abl pathways, activated by ionizing radiation, are known it will be possible to map the position of ATM in these pathways and describe its mechanism of action. What are the clinical implications of understanding the molecular basis of the defect in ataxia-telangiectasia? As outlined above since radiosensitivity is a universal characteristic of A-T understanding the mechanism of action of ATM will provide additional information or radiation signalling in human cells. With this information it may be possible to sensitize tumour cells to radiation and thus increase the therapeutic benefit of radiotherapy. This might involve the use of small molecules that would interfere with the normal ATM controlled pathways and thus sensitize cells to radiation or alternatively it might involve the efficient introduction of ATM anti-sense c

  12. Pontine hyperperfusion in sporadic hyperekplexia.

    Science.gov (United States)

    Vetrugno, Roberto; Mascalchi, Mario; Vella, Alessandra; Della Nave, Riccardo; Guerrini, Laura; Vattimo, Angelo; del Giudice, Emanuele Miraglia; Plazzi, Giuseppe; D'Angelo, Roberto; Greco, Giovanni; Montagna, Pasquale

    2007-09-01

    To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia. Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes. Regional cerebral blood flow was investigated with single photon emission tomography (SPECT) during evoked startles and at rest. Both patients showed excessively large and non-habituating startle responses. In both patients, MRI showed impingement of the brainstem by the vertebrobasilar artery, lack of frontal or brainstem abnormalities on 1H-MRS and hyperperfusion in the dorsal pons and cingulate cortex, and superior frontal gyrus at SPECT during evoked startles. In our patients with hyperekplexia, the vertebrobasilar arteries were found to impinge on the brainstem. Neurophysiological findings and neurofunctional imaging of evoked startles indicated a pontine origin of the movement disorder modulated by activation in cortical, especially frontal, areas. The neurofunctional correlates of evoked startles in human sporadic hyperekplexia are similar to those observed for the startle circuit in animals.

  13. Imaging of Hereditary Hemorrhagic Telangiectasia

    International Nuclear Information System (INIS)

    Carette, Marie-France; Nedelcu, Cosmina; Tassart, Marc; Grange, Jean-Didier; Wislez, Marie; Khalil, Antoine

    2009-01-01

    This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations (AVMs). The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary. The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs. Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients.

  14. Pontine control of ejaculation and female orgasm.

    Science.gov (United States)

    Huynh, Hieu K; Willemsen, Antoon T M; Lovick, Thelma A; Holstege, Gert

    2013-12-01

    The physiological component of ejaculation shows parallels with that of micturition, as both are essentially voiding activities. Both depend on supraspinal influences to orchestrate the characteristic pattern of activity in the pelvic organs. Unlike micturition, little is known about the supraspinal pathways involved in ejaculation and female orgasm. To identify brainstem regions activated during ejaculation and female orgasm and to compare them with those activated during micturition. Ejaculation in men and orgasm in women were induced by manual stimulation of the penis or clitoris by the participants' partners. Positron emission tomography (PET) with correction for head movements was used to capture the pattern of brain activation at the time of sexual climax. PET scans showing areas of activation during sexual climax. Ejaculation in men and orgasm in women resulted in activation in a localized region within the dorsolateral pontine tegmentum on the left side and in another region in the ventrolateral pontine tegmentum on the right side. The dorsolateral pontine area was also active in women who attempted but failed to have an orgasm and in women who imitated orgasm. The ventrolateral pontine area was only activated during ejaculation and physical orgasm in women. Activation of a localized region on the left side in the dorsolateral pontine tegmentum, which we termed the pelvic organ-stimulating center, occurs during ejaculation in men and physical orgasm in women. This same region has previously been shown to be activated during micturition, but on the right side. The pelvic organ-stimulating center, via projections to the sacral parasympathetic motoneurons, controls pelvic organs involved in voiding functions. In contrast, the ventrolateral pontine area, which we term the pelvic floor-stimulating center, produces the pelvic floor contractions during ejaculation in men and physical orgasm in women via direct projections to pelvic floor motoneurons. © 2013

  15. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Susumu Takamatsu

    2016-01-01

    Full Text Available A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases. Based on these findings, the patient was definitely diagnosed with hereditary hemorrhagic telangiectasia according to Curaçao criteria. He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia. Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities.

  16. [Ataxia telangiectasia: review of 13 new cases].

    Science.gov (United States)

    Valbuena, O; Póo, P; Campistol, J; Vernet, A; Fernández-Alvarez, E; Sierra, I; Gean, E

    1996-01-01

    We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.

  17. Ataxia-telangiectasia: future prospects

    Directory of Open Access Journals (Sweden)

    Chaudhary MW

    2014-09-01

    Full Text Available Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM. ATM is a large serine/threonine protein kinase, a member of the phosphoinositide 3-kinase-related protein kinase (PIKK family whose best-studied function is as master controller of signal transduction for the DNA damage response (DDR in the event of double strand breaks (DSBs. The DDR rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell-cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence. DSBs can be generated by exposure to ionizing radiation (IR or various chemical compounds, such as topoisomerase inhibitors, or can be part of programmed generation and repair of DSBs via cellular enzymes needed for the generation of the antibody repertoire as well as the maturation of germ cells. AT patients have immunodeficiency, and are sterile with gonadal dysgenesis as a result of defect in meiotic recombination. In the cells of nervous system ATM has additional role in vesicle dynamics as well as in the maintenance of the epigenetic code of histone modifications. Moderate levels of ATM are associated with prolonged lifespan through resistance to oxidative stress. ATM inhibitors are being viewed as potential radiosensitizers as part of cancer radiotherapy. Though there is no cure for the disease at present, glucocorticoids have been shown to induce alternate splicing site in the gene for ATM partly restoring its activity, but their most effective timing in the disease natural history is not yet known. Gene therapy is promising but large size of the gene makes it technically difficult

  18. Central pontine myelinolysis with clinical recovery

    International Nuclear Information System (INIS)

    Strohmaier, A.; Fink, G.A.; Hueppe, T.; Friedrich, M.

    1995-01-01

    We report on a case of central pontine myelinolysis in a young alcoholic woman, which occurred after a period of abstinence. There was a latency between the clinical findings and magnetic resonance imaging. The lowest measured sodium blood level was 121 mmol/l. (orig.) [de

  19. Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

    Directory of Open Access Journals (Sweden)

    Fatma Deniz Aygün

    2015-01-01

    Full Text Available Ataxia-telangiectasia (A-T is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. We aimed to report recurrent hemorrhage from bladder wall telangiectasia in a 9-year-old boy with A-T who had received intravenous cyclophosphamide for non-Hodgkin’s lymphoma. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient.

  20. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Central OMIM: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic ... 10.1097/GIM.0b013e3182136d32. Review. Citation on PubMed McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead ...

  1. Hereditary hemorrhagic telangiectasia clinical and molecular genetics

    NARCIS (Netherlands)

    Letteboer, T.G.W.

    2010-01-01

    Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant disease characterized by vascular malformations in multiple organ systems. HHT has an age-related penetrance and variable clinical expression. The clinical symptoms are caused by direct

  2. Quantitative evaluation of pontine atrophy using computer tomography

    Energy Technology Data Exchange (ETDEWEB)

    Chida, K.; Kamikura, I.; Takasu, T.; Goto, N.

    1989-03-01

    Pontine volume was measured and evaluated by computer tomography (CT) in 37 healthy adults and in 29 adult autopsied brains who did not have chronic neurologic diseases. The pons was cut serially into 5 mm slices in the autopsied brains. In the CT examinations both 5 mm and 2 mm slices were studied. Pontine areas in horizontal planes were measured using an image analyzer, then pontine volume was calculated by accumulation of the mean value of the areas and cranio-caudal length. Pontine volume was approximately 19 cm/sup 3/ and pontine atrophy could be defined as less than 12 cm/sup 3/ (i.e. the mean - 2 SD) in both methods, which heretofore have not been reported.

  3. Nanotechnology Applications for Diffuse Intrinsic Pontine Glioma.

    Science.gov (United States)

    Bredlau, Amy Lee; Dixit, Suraj; Chen, Chao; Broome, Ann-Marie

    2017-01-01

    Diffuse intrinsic pontine gliomas (DIPGs) are invariably fatal tumors found in the pons of elementary school aged children. These tumors are grade II-IV gliomas, with a median survival of less than 1 year from diagnosis when treated with standard of care (SOC) therapy. Nanotechnology may offer therapeutic options for the treatment of DIPGs. Multiple nanoparticle formulations are currently being investigated for the treatment of DIPGs. Nanoparticles based upon stable elements, polymer nanoparticles, and organic nanoparticles are under development for the treatment of brain tumors, including DIPGs. Targeting of nanoparticles is now possible as delivery techniques that address the difficulty in crossing the blood brain barrier (BBB) are developed. Theranostic nanoparticles, a combination of therapeutics and diagnostic nanoparticles, improve imaging of the cancerous tissue while delivering therapy to the local region. However, additional time and attention should be directed to developing a nanoparticle delivery system for treatment of the uniformly fatal pediatric disease of DIPG.

  4. Stereotactic aspiration for hypertensive pontine hemorrhage

    International Nuclear Information System (INIS)

    Takahama, Hidetoshi; Morii, Ken; Sato, Mitsuya; Sekiguchi, Kentaro; Sato, Susumu

    1989-01-01

    Recently, CT-guided stereotactic aspiration has been attempted as a useful method for hypertensive intracerebral hemorrhage. Since the CT scanner was introduced in our clinic, we have experienced 55 cases with hypertensive pontine hemorrhage. We carried out stereotactic aspiration in nine cases consisting of four men and five women, ranging in age from 34 to 66 years. Operation was performed between 4 and 22 days after the hemorrhage (mean: 7.7 days). On the other hand, 46 cases were conservatively treated. They consisted of 31 men and 15 women, aged from 31 to 79 years, with a mean age of 55.5 years. The purpose of this study is to review the outcome at three months after the onset, and then to evaluate the clinical value of this method for hypertensive pontine hemorrhage. We have analyzed the outcome from the viewpoint of consciousness level, CT classification, and maximum transverse hematoma diameter on CT scan. In the present study, there was a statistically significant correlation between consciousness level and outcome in the conservative group. The outcome in the operated-on group tended to be superior to that in the conservatively treated group. Particularly, in cases of Japan Coma Scale 10 to 100, functionally favorable effects were considered to be obtained by stereotactic aspiration. According to CT classification, operation was considered to have exerted functionally favorable effects on unilateral basis tegmentum type and bilateral tegmentum type. The conservatively treated group showed a statistically significant correlation between maximum transverse hematoma diameter and outcome. A favorable prognosis was considered to be induced by operation in cases of 22 to 28 mm in maximum transverse hematoma diameter. (author)

  5. Very early disease manifestations of macular telangiectasia type 2

    NARCIS (Netherlands)

    Issa, P.C.; Heeren, T.F.C.; Kupitz, E.H.; Holz, F.G.; Berendschot, T.T.J.M.

    Background: To report very early morphologic and functional alterations in patients with macular telangiectasia type 2. Methods: Patients with asymmetric disease manifestations, in whom retinal alterations characteristic for macular telangiectasia type 2 were present in one but not in the apparently

  6. Brain abscesses and hereditary hemorrhagic telangiectasia

    International Nuclear Information System (INIS)

    Vives, Daniel A.; Bauni, Carlos E.; Mendoza, Monica E.

    2003-01-01

    Rendu-Osler-Weber disease or Hereditary Hemorrhagic Telangiectasia (HHT) is a generalized familial angiodysplastic disorder. The neurological manifestations of this entity are due to Central Nervous System vascular lesions or to complications of other visceral lesions such as pulmonary arteriovenous fistulae. This report describes two patients (males, 40 and 61 years old), with brain abscesses associated with HHT. The CT, MRI and Angiographic findings as well as the therapeutic approach are analyzed. Patients with brain abscess of unknown origin must be evaluated for the presence of lung vascular malformation in association with HHT. (author)

  7. Evidence-based management of epistaxis in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Syed, I; Sunkaraneni, V S

    2015-05-01

    There are currently no guidelines in the UK for the specific management of hereditary haemorrhagic telangiectasia related epistaxis. The authors aimed to review the literature and provide an algorithm for the management of hereditary haemorrhagic telangiectasia related epistaxis. The Medline and Embase databases were interrogated on 15 November 2013 using the search items 'hereditary haemorrhagic telangiectasia' (title), 'epistaxis' (title) and 'treatment' (title and abstract), and limiting the search to articles published in English. A total of 46 publications were identified, comprising 1 systematic review, 2 randomised, controlled trials, 27 case series, 9 case reports, 4 questionnaire studies and 3 in vitro studies. There is a lack of high-level evidence for the use of many of the available treatments for the specific management of epistaxis in hereditary haemorrhagic telangiectasia. Current management should be based on a multidisciplinary team approach involving both a hereditary haemorrhagic telangiectasia physician and an ENT surgeon, especially when systemic therapy is being considered. The suggested treatment algorithm considers that the severity of epistaxis merits intervention at different levels of the treatment ladder. The patient should be assessed using a reproducible validated assessment tool, for example an epistaxis severity score, to guide treatment. More research is required, particularly in the investigation of topical agents targeting the development and fragility of telangiectasiae in hereditary haemorrhagic telangiectasia.

  8. Central pontine myelinolysis: clinical presentation and radiologic findings

    International Nuclear Information System (INIS)

    Laubenberger, J.; Schneider, B.; Ansorge, O.; Goetz, F.; Haeussinger, D.; Volk, B.; Langer, M.

    1996-01-01

    Central pontine myelinolysis (CPM) is a neurologic disorder once thought to be uniformly fatal. With the introduction of CT and MRI there was an increasing number of reports on nonfatal cases of CPM. Nearly all reports on nonfata cases describe severe clinical syndromes with tetraparesis, bulbar palsy, and coma. We reviewed nine patients with CPM and compared the size of the pontine lesion on MRI and CT with the severity of clinical presentation. Clinical presentation of CPM was highly variable: The symptoms ranged from severe neurologic disorders to mild neurologic disturbances only. Two of nine patients died from CPM. The size of the pontine lesion did not correlate with the severity of the neurologic illness or the final outcome. Mild forms of CPM might be difficult to diagnose clinically. This applies even more for patients with underlying diseases such as Wernicke's encephalopathy, which in itself might cause a clinical picture similar to that of CPM. Central Pontine Myelinolysis is a major differential diagnosis in acute neurologic deterioration indicating pontine damage. Magnetic resonance imaging is the decisive diagnostic tool for CPM. (orig.)

  9. Diffuse intrinsic pontine glioma: poised for progress

    International Nuclear Information System (INIS)

    Warren, Katherine E.

    2012-01-01

    Diffuse intrinsic pontine gliomas (DIPGs) are amongst the most challenging tumors to treat. Surgery is not an option, the effects of radiation therapy are temporary, and no chemotherapeutic agent has demonstrated significant efficacy. Numerous clinical trials of new agents and novel therapeutic approaches have been performed over the course of several decades in efforts to improve the outcome of children with DIPG, yet without success. The diagnosis of DIPG is based on radiographic findings in the setting of a typical clinical presentation, and tissue is not routinely obtained as the standard of care. The paradigm for treating children with these tumors has been based on that for supratentorial high-grade gliomas in adults as the biology of these lesions were presumed to be similar. However, recent pivotal studies demonstrate that DIPGs appear to be their own entity. Simply identifying this fact releases a number of constraints and opens opportunities for biologic investigation of these lesions, setting the stage to move forward in identifying DIPG-specific treatments. This review will summarize the current state of knowledge of DIPG, discuss obstacles to therapy, and summarize results of recent biologic studies.

  10. Capillary detectors

    International Nuclear Information System (INIS)

    Konijn, J.; Winter, K.; Vilain, P.; Wilquet, G.; Fabre, J.P.; Kozarenko, E.; Kreslo, I.; Goldberg, J.; Hoepfner, K.; Bay, A.; Currat, C.; Koppenburg, P.; Frekers, D.; Wolff, T.; Buontempo, S.; Ereditato, A.; Frenkel, A.; Liberti, B.; Martellotti, G.; Penso, G.; Ekimov, A.; Golovkin, S.; Govorun, V.; Medvedkov, A.; Vasil'chenko, V.

    1998-01-01

    The option for a microvertex detector using glass capillary arrays filled with liquid scintillator is presented. The status of capillary layers development and possible read-out techniques for high rate environment are reported. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  11. Genetic and cellular features of ataxia telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, A M.R.; Byrd, P J; McConville, C M; Thacker, S [Birmingham Univ. (United Kingdom). CRC Dept. of Cancer Studies

    1994-01-01

    Ataxia telangiectasia (AT) is a developmental disorder in which many organ systems are affected. The children are recognized by a progressive cerebellar deterioration. The gene for AT has now been localized to a region of chromosome 11q22-23 of no more than 3Mb in size and its product appears to be involved directly or indirectly in some form of DNA recombination. Patients and their cells are unusually sensitive to ionizing radiation and various radiometric drugs. Observations on the progressive nature of the disorder, with loss of selected cells or failure to develop normally, might be compatible with the pathological effect of an inability to correctly regulate apoptosis in some cell lineages. While this is an intriguing speculation, there is, at present, no evidence for such a defect in AT. (author).

  12. Complementation analysis of ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Jaspers, N.G.; Painter, R.B.; Paterson, M.C.; Kidson, C.; Inoue, T.

    1985-01-01

    In a number of laboratories genetic analysis of ataxia-telangiectasia (AT) has been performed by studying the expression of the AT phenotype in fused somatic cells or mixtures of cell-free extracts from different patients. Complementation of the defective response to ionizing radiation was observed frequently, considering four different parameters for radiosensitivity in AT. The combined results from studies on cultured fibroblasts or lymphoblastoid cells from 17 unrelated families revealed the presence of at least four and possibly nine complementation groups. These findings suggest that there is an extensive genetic heterogeneity in AT. More extensive studies are needed for an integration of these data and to provide a set of genetically characterized cell strains for future research of the AT genetic defect

  13. Cell biological study on ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Ohta, Shigeru; Katsura, Tadahiko; Shimada, Morimi; Shima, Akihiro; Chishiro, Hiroko; Kasahara, Yoshitaka.

    1985-01-01

    Diagnosis of ataxia-telangiectasia (AT) has largely been dependent on the clinical findings such as cerebellar ataxia, telangiectasia, and immunological deficiency. However, diagnosis of AT by these ordinary criteria is sometimes not sufficient because of the lack of immunological abnormalities. We examined three cases of AT by ordinary clinical criteria and also by X-ray sensitivity of cultured skin fibroblasts. Case 1, a 9-year-old boy, revealed typical clinical features of AT. However, he had no abnormality in serum IgA or IgE. Case 2, a 10-year-old boy, showed decreased serum IgA level. Case 3, a 19-year-old female, had typical clinical features of AT with normal serum IgA, and developed papillary adenocarcinoma of thyroid which was surgically removed. Fibroblast strains derived from these three cases of AT and from the parents of Case 3 were examined with regard to X-ray sensitivity. Three fibroblast strains derived from AT patients (AT homozygotes) showed remarkable hypersensitivity to X-ray. Fibroblast strains derived from the parents (AT heterozygotes) of Case 3, however, showed normal X-ray sensitivity. Recently, AT fibroblasts have been known to show hypersensitivity also to some mutagen like neocarzinostazin as reported by Shiloh et al. Fibroblasts from Case 3 revealed hypersensitivity to neocarzinostazin. However, the sensitivity of the strains from AT heterozygotes (the parents of Case 3) showed no apparent difference from that of control cells. The assay system for mutagen is quite unstable and proper conditioning of the seeding cell number is important for the carrier detection. However, the diagnosis of AT homozygotes was definitely established by X-ray irradiation to cultured fibroblasts from patients. (author)

  14. Multimodality imaging in macular telangiectasia 2: A clue to its pathogenesis

    Directory of Open Access Journals (Sweden)

    Lihteh Wu

    2015-01-01

    Full Text Available Macular telangiectasia type 2 also known as idiopathic perifoveal telangiectasia and juxtafoveolar retinal telangiectasis type 2A is an acquired bilateral neurodegenerative macular disease that manifests itself during the fifth or sixth decades of life. It is characterized by minimal dilatation of the parafoveal capillaries with graying of the retinal area involved, a lack of lipid exudation, right-angled retinal venules, refractile deposits in the superficial retina, hyperplasia of the retinal pigment epithelium, foveal atrophy, and subretinal neovascularization (SRNV. Our understanding of the disease has paralleled advances in multimodality imaging of the fundus. Optical coherence tomography (OCT images typically demonstrate the presence of intraretinal hyporeflective spaces that are usually not related to retinal thickening or fluorescein leakage. The typical fluorescein angiographic (FA finding is a deep intraretinal hyperfluorescent staining in the temporal parafoveal area. With time, the staining may involve the whole parafoveal area but does not extend to the center of the fovea. Long-term prognosis for central vision is poor, because of the development of SRNV or macular atrophy. Its pathogenesis remains unclear but multimodality imaging with FA, spectral domain OCT, adaptive optics, confocal blue reflectance and short wave fundus autofluorescence implicate Müller cells and macular pigment. Currently, there is no known treatment for this condition.

  15. Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

    Directory of Open Access Journals (Sweden)

    Lončarević Olivera

    2016-01-01

    Full Text Available Introduction. Hereditary hemorrhagic telangiectasia (HHT also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor β (TGF-β. The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

  16. Rare association of central pontine myelinolysis with infantile tremor syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Datta

    2012-01-01

    Full Text Available Central pontine myelinolysis (CPM is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS. ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO protocol for protein energy malnutrition (PEM and administration of propranolol without any side effects.

  17. Early Colonization in the Pontine Region (Central Italy)

    NARCIS (Netherlands)

    Attema, Peter; de Haas, Tymon; Termeer, Marleen; Stek, T.D.; Pelgrom, J.

    2014-01-01

    This paper presents a study of changes in the urban and rural settlement of the Pontine region in southern Lazio from the Archaic (6th c. B.C.) to the Mid-Republican period (circa 200 B.C.). Its aim is to increase understanding of the colonization of this key area in the context of the political,

  18. Afferent projections to the pontine micturition center in the cat

    NARCIS (Netherlands)

    Kuipers, R; Mouton, LJ; Holstege, G; Kuiper, Rutger

    2006-01-01

    The pontine micturition center (PMC) or Barrington's nucleus controls micturition by way of its descending projections to the sacral spinal cord. However, little is known about the afferents to the PMC that control its function and may be responsible for dysfunction in patients with

  19. Ataxia telangiectasia: LET dependence of cellular inactivation

    International Nuclear Information System (INIS)

    Blakely, E.A.; Tobias, C.A.

    1984-01-01

    Human Ataxia telangiectasia cells (AT 2SF line) have been irradiated in vitro under aerobic and hypoxic conditions with heavy-ion beams accelerated at the Berkeley Bevalac as a part of a study to characterize the radiation responses of genetically sensitive and resistant cell lines to high LET radiations. Results from track-segment exposures to neon, silicon, argon and iron ion beams accelerated to initial energies of from 225 to 670 MeV/amu provided an LET range between 30 to 1,000 KeV/μm. The data indicate: (1) The sensitivity of AT cells increases with increasing LET, similar to resistant human lines (e.g., T-1 cells). However, due to efficient repair, T-1 cells are more resistant than AT cells at LET values below 200 keV/μm; (2) Maximum cell kill occurs for both lines at 100-200 keV/μm; at higher LET the sensitivity of the two lines approach each other; (3) There is only small variation in the sensitivity of AT cells to particles of various atomic numbers at the same LET; differences are more pronounced in the LET domain between 50 and 200 keV/μm; and (4) AT cells have slightly lower OER values than T-1 cells in the range of LET studied below 200 keV/μm

  20. CLINICAL APPROACH TO HEREDITARY HEMORRHAGIC TELANGIECTASIA

    Directory of Open Access Journals (Sweden)

    Mary Hachmeriyan

    2013-11-01

    Full Text Available Background: Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease is a rare syndrome, inherited as an autosomal dominant trait with incidence of 1/10000. The clinical manifestations are due to vascular malformations and predisposition to hemorrhages in different organs, the leading symptom being recurrent epistaxis. If diagnosed with HHT, the patient and his relatives and especially children have to be screened for occult vascular malformations.Case report: A 30 years old woman was treated for cerebral stroke, epistaxis, anemia, arterio-venous malformations for over 6 months. Only at this point she was diagnosed with HHT, after noticing the typical mucosal changes. Focused family history revealed symptoms of HHT in her only child, her father, aunt and two cousins The child was screened for occult vascular malformations – attainment of the nasal mucosa, lungs, gastrointestinal system, liver and brain. Pulmonary and gastrointestinal arterio-venous malformations were proven.Conclusion: Any case of recurrent epistaxis should be evaluated for HHT. After confirmation of the diagnosis every patient and close relatives have to be screened for attainment of other organs and followed up in order to prevent severe life threatening complications.

  1. Diode laser for the treatment of telangiectasias following hemangioma involution.

    Science.gov (United States)

    Cerrati, Eric W; O, Teresa M; Chung, Hoyun; Waner, Milton

    2015-02-01

    Infantile hemangiomas are well known for their rapid growth during the first 6 to 9 months of life, followed by a spontaneous but slow involution. The standard of care is to treat these lesions at an early age with propranolol to expedite the involution process; however, surgery still remains an active component in the management. Medical treatment with propranolol or natural involution will often result in residual telangiectasias. We evaluated the efficacy of using a diode laser as a treatment for telangiectasias following cervicofacial infantile hemangioma involution. Case series with chart review. Tertiary care hospital and practice specializing in the care of vascular anomalies. Twenty patients, aged 4 months to 11 years (average 2.69 years), underwent treatment with a 532-nm diode laser to treat the residual telangiectasias following hemangioma involution. All procedures were performed in the operating room. To assess the efficacy, we independently evaluated pre- and posttreatment digital photographs and ranked them on a 0- to 4-point scale (0 = no change and 4 = complete response). Adverse reactions were also recorded. The telangiectasias showed considerable improvement following treatment. In more than half of the patients treated, the affected area demonstrated a complete response. No adverse reactions were noted. A 532-nm diode laser effectively treats the remaining telangiectasias following hemangioma involution. Whether used independently or in conjunction with other treatment modalities, the diode laser should be part of the surgical armamentarium when treating infantile hemangiomas. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

  2. Pulmonary function in adolescents with ataxia telangiectasia.

    Science.gov (United States)

    McGrath-Morrow, Sharon; Lefton-Greif, Maureen; Rosquist, Karen; Crawford, Thomas; Kelly, Amber; Zeitlin, Pamela; Carson, Kathryn A; Lederman, Howard M

    2008-01-01

    Pulmonary complications are common in adolescents with ataxia telangiectasia (A-T), however objective measurements of lung function may be difficult to obtain because of underlying bulbar weakness, tremors, and difficulty coordinating voluntary respiratory maneuvers. To increase the reliability of pulmonary testing, minor adjustments were made to stabilize the head and to minimize leaks in the system. Fifteen A-T adolescents completed lung volume measurements by helium dilution. To assess for reproducibility of spirometry testing, 10 A-T adolescents performed spirometry on three separate occasions. Total lung capacity (TLC) was normal or just mildly decreased in 12/15 adolescents tested. TLC correlated positively with functional residual capacity (FRC), a measurement independent of patient effort (R2=0.71). The majority of individuals had residual volumes (RV) greater than 120% predicted (10/15) and slow vital capacities (VC) less than 70% predicted (9/15). By spirometry, force vital capacity (FVC) and forced expiratory volume in 1 sec (FEV1) values were reproducible in the 10 individuals who underwent testing on three separate occasions (R=0.97 and 0.96 respectively). Seven of the 10 adolescents had FEV1/FVC ratios>90%. Lung volume measurements from A-T adolescents revealed near normal TLC values with increased RV and decreased VC values. These findings indicate a decreased ability to expire to residual volume rather then a restrictive defect. Spirometry was also found to be reproducible in A-T adolescents suggesting that spirometry testing may be useful for tracking changes in pulmonary function over time in this population. Copyright (c) 2007 Wiley-Liss, Inc.

  3. Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality.

    LENUS (Irish Health Repository)

    Brady, A P

    2012-01-31

    Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition whose effects are mediated through deficient blood vessel formation and regeneration, with multisystem involvement. Patients are usually aware of resulting skin telangiectasia and epistaxis, but are also exposed to dangers posed by occult vascular malformations in other organs. About 15-35% of HHT patients have pulmonary AVMs (PAVMs), 10% have cerebral AVMs (CAVMs), 25-33% suffer significant GI blood loss from GI tract telangiectasia, and an unknown but high percentage have liver involvement. In total, 10% of affected individuals die prematurely or suffer major disability from HHT, largely because of bleeding from CAVMs and PAVMs, or paradoxical embolization through PAVMs. Screening for and early intervention to treat occult PAVMs and CAVMs can largely eliminate these risks, and should be undertaken in a specialist centre. The National HHT Center in The Mercy University Hospital in Cork is the referral centre for HHT screening in Ireland.

  4. Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia

    Directory of Open Access Journals (Sweden)

    Farhad Mahvelati

    2004-06-01

    Full Text Available Ataxia Telangiectasia (AT is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur. There is a high incidence of development of malignant tumors, mainly lymphomas. Cerebellar atrophy is the most prominent abnormality and is shown better by magnetic resonance imaging (MRI than CT-Scan. Intracranial hemorrhage occurs rarely. We report a 7 years old boy who admitted for recurrent pulmonary infections. His examination showed ataxic gait with decreased deep tendon reflexes in lower extremities. He had telangiectasia in the eyes and his speech was slurred and difficult. Brain MRI showed cerebellar atrophy with diffuse hyperintensity in white matter, most prominent in occipital region, which was suggestive of leukodystrophy. This white matter change was not reported before in AT.

  5. [Hereditary hemorrhagic telangiectasia presenting with hematuria and severe anemia].

    Science.gov (United States)

    Paz, A; Goren, E; Segal, M

    1995-07-01

    A patient with hereditary hemorrhagic telangiectasia was admitted with hematuria and severe anemia after mild recurrent episodes of epistaxis. Telangiectasias were found in the skin and buccal and nasal mucosa. No defect in the coagulation mechanism was found; thrombocyte count and function were normal. On cystoscopy, tortuous engorged vessels, some actively bleeding, were seen in the trigonal mucosa. Biopsy showed enlarged vessels in the lamina propria. Electrocoagulation of the bleeding vessels stopped hematuria, but 6 months later it recurred. This time Nd-YAG laser was used to stop the bleeding after electrocoagulation was ineffective.

  6. what drives progressive motor deifcits in patients with acute pontine infarction?

    Institute of Scientific and Technical Information of China (English)

    Jue-bao Li; Rui-dong Cheng; Liang Zhou; Wan-shun Wen; Gen-ying Zhu; Liang Tian; Xiang-ming Ye

    2015-01-01

    Progressive motor deficits are relatively common in acute pontine infarction and frequently associated with increased functional disability. However, the factors that affect the progression of clinical motor weakness are largely unknown. Previous studies have suggested that pontine infarctions are caused mainly by basilar artery stenosis and penetrating artery disease. Recently, lower pons lesions in patients with acute pontine infarctions have been reported to be related to progressive motor deifcits, and ensuing that damage to the corticospinal tracts may be respon-sible for the worsening of neurological symptoms. Here, we review studies on motor weakness progression in pontine infarction and discuss the mechanisms that may underlie the neurologic worsening.

  7. What drives progressive motor deficits in patients with acute pontine infarction?

    Directory of Open Access Journals (Sweden)

    Jue-bao Li

    2015-01-01

    Full Text Available Progressive motor deficits are relatively common in acute pontine infarction and frequently associated with increased functional disability. However, the factors that affect the progression of clinical motor weakness are largely unknown. Previous studies have suggested that pontine infarctions are caused mainly by basilar artery stenosis and penetrating artery disease. Recently, lower pons lesions in patients with acute pontine infarctions have been reported to be related to progressive motor deficits, and ensuing that damage to the corticospinal tracts may be responsible for the worsening of neurological symptoms. Here, we review studies on motor weakness progression in pontine infarction and discuss the mechanisms that may underlie the neurologic worsening.

  8. Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes

    Directory of Open Access Journals (Sweden)

    Bari O

    2017-05-01

    Full Text Available Omar Bari,1 Philip R Cohen2 1School of Medicine, University of California San Diego, La Jolla, CA, USA; 2Department of Dermatology, University of California San Diego, La Jolla, CA, USA Abstract: Hereditary hemorrhagic telangiectasia (HHT is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs. Liver AVMs are present in many patients with HHT, though these individuals are usually asymptomatic; however, liver AVMs may lead to serious complications, such as high output cardiac failure. Diagnosis of HHT hinges upon fulfilling three out of four criteria: family history of the condition, mucocutaneous telangiectases, spontaneous and recurrent episodes of epistaxis, and visceral AVMs. Management is guided by international consensus guidelines and targets patients’ specific AVMs. Prognosis is good, though severe complications including hemorrhage and paradoxical emboli are possible. Novel therapeutics are being explored in clinical trials; bevacizumab and pazopanib inhibit angiogenesis, while thalidomide bolsters blood vessel maturation. Pregnancy in patients with HHT is considered high risk. While the majority of pregnancies proceed normally, severe complications have been reported in some women with HHT; these include heart failure, intracranial hemorrhage, pulmonary hemorrhage, and stroke. Such complications occur most often in the second and third trimesters when maternal changes such as peripheral vasodilation and increased cardiac output are at their maximum. Awareness of the diagnosis of HHT has

  9. Hypertensive Encephalopathy: Isolated Pons Involvement Mimicking Central Pontine Myelinolysis

    Energy Technology Data Exchange (ETDEWEB)

    Gamanagatti, S.; Subramanian, S. [India Institute of Medical Sciences, New Delhi (India)

    2006-09-15

    MRI of the brain was performed, and it demonstrated an isolated high signal on the T2 weighted and fluid attenuated inversion recovery sequences that involved only the central pons with sparing the periphery. There was no restricted diffusion on diffusion weighted imaging. The differential diagnosis included posterior reversible syndrome and central pontine myelinolysis; however, the blood sodium on admission was normal. The pathogenesis of HE is that the auto-regulatory mechanisms that control the cerebral blood flow are exceeded, resulting in hyper-perfusion. The consequent over-distension of the cerebral vessels, the breakdown of the blood brain barrier and ultimately, the extravasation of fluid into the interstitium all cause vasogenic edema. In most cases, the changes of hypertensive encephalopathy represent reversible vasogenic edema, which can be seen on T2-weighted images, and restricted diffusion is not seen on the diffusion-weighted imaging (DWI) and the apparent diffusion coefficient (ADC) maps. Hypertensive encephalopathy that manifests as a reversible increased signal isolated to the pons on T2-weighted images is extremely uncommon. The differential diagnosis for such pontine T2 hyperintensity includes pontine glioma, ischemic and radiation changes (generally irreversible conditions), as well as central pontine myelinolysis (CPM) and demyelinating disorders such as multiple sclerosis, acute disseminated encephalomyelitis and rhomb-encephalitis. In CPM electrolyte imbalances provide a clue for the diagnosis, where as for glioma, there will be an expansion and mass effect. In conclusion, clinical recognition of brainstem HE may be difficult. The features of a lack of correlation between the severity of the radiological abnormality and the clinical status, combined with the rapid resolution following antihypertensive treatment, should suggest the diagnosis. It is important for the radiologist to be familiar with the imaging abnormalities of this life

  10. Hypertensive Encephalopathy: Isolated Pons Involvement Mimicking Central Pontine Myelinolysis

    International Nuclear Information System (INIS)

    Gamanagatti, S.; Subramanian, S.

    2006-01-01

    MRI of the brain was performed, and it demonstrated an isolated high signal on the T2 weighted and fluid attenuated inversion recovery sequences that involved only the central pons with sparing the periphery. There was no restricted diffusion on diffusion weighted imaging. The differential diagnosis included posterior reversible syndrome and central pontine myelinolysis; however, the blood sodium on admission was normal. The pathogenesis of HE is that the auto-regulatory mechanisms that control the cerebral blood flow are exceeded, resulting in hyper-perfusion. The consequent over-distension of the cerebral vessels, the breakdown of the blood brain barrier and ultimately, the extravasation of fluid into the interstitium all cause vasogenic edema. In most cases, the changes of hypertensive encephalopathy represent reversible vasogenic edema, which can be seen on T2-weighted images, and restricted diffusion is not seen on the diffusion-weighted imaging (DWI) and the apparent diffusion coefficient (ADC) maps. Hypertensive encephalopathy that manifests as a reversible increased signal isolated to the pons on T2-weighted images is extremely uncommon. The differential diagnosis for such pontine T2 hyperintensity includes pontine glioma, ischemic and radiation changes (generally irreversible conditions), as well as central pontine myelinolysis (CPM) and demyelinating disorders such as multiple sclerosis, acute disseminated encephalomyelitis and rhomb-encephalitis. In CPM electrolyte imbalances provide a clue for the diagnosis, where as for glioma, there will be an expansion and mass effect. In conclusion, clinical recognition of brainstem HE may be difficult. The features of a lack of correlation between the severity of the radiological abnormality and the clinical status, combined with the rapid resolution following antihypertensive treatment, should suggest the diagnosis. It is important for the radiologist to be familiar with the imaging abnormalities of this life

  11. MRI manifestation of Wilson's disease accompanied with central pontine myelinolysis

    International Nuclear Information System (INIS)

    Zhang Jingsong; Huan Yi; Chang Yingjuan; Chang Yingjuan; Ge Yali; Zhang Guangyun; Han Yuedong; Zhao Haitao; Yang Chunmin; Yang Yan

    2004-01-01

    Objective: To discuss MRI manifestation of Wilson's disease accompanied with central pontine myelinolysis (CPM), and to especially detect the value of diffusion-weighted MRI (DWI) in this disease. Methods: Two cases of Wilson's disease accompanied with CPM were performed with sequent MR examination including T 1 WI, T 2 WI, FLAIR, DWI, and contrast-enhanced MRI (CE MRI) by a 1.5 T magnetic resonance system (Philips gyroscan master). Results: Symmetric long T 1 and T 2 signals were found in central pontine region, lenticular nucleus, caudate nucleus, and thalamus. CEMRI showed no apparent enhanced lesions. DWI showed obviously high signal intensities in central pontine region with apparent diffusion coefficient values fluctuated between (100-300) x 10 -6 mm 2 /s while FLAIR images just showed slightly high signal in the same area, which suggested that cytotoxic edema did in fact exist in CPM. Meanwhile, DWI also showed high signals in bilateral lenticular nucleus with apparent diffusion coefficient values fluctuated between (300-600) x 10 -6 mm 2 /s, however, FLAIR images showed heterogeneous high signals and one case presented low DWI signals in bilateral head of caudate nucleus, all these signs might be explained by mixed-changes of cytotoxic edema and vasogenic edema in long period of Wilson's disease. Conclusion: Wilson's disease and CPM have characteristic MRI manifestation and DWI may be a very useful way to confirm a correct diagnosis. (authors)

  12. MR imaging of pontine infarction within 2 weeks after ictus

    Energy Technology Data Exchange (ETDEWEB)

    Uchino, Akira; Hata, Hirofumi; Ohno, Masato (Kyushu Rosai Hospital, Fukuoka (Japan))

    1991-08-01

    Magnetic resonance (MR) images of 10 patients with pontine infarction were reviewed. A total of 17 examinations were performed on a 1.5 Tesla high-field scanner (GE) within two weeks after ictus. The infarcted area was detected by MR as early as 20 hours after stroke in one case. However, MR images obtained in two cases three and nine hours after onset were unremarkable. It is therefore suggested that follow-up study should be performed when initial MR images within 20 hours postictus are normal. T{sub 1}-weighted images at four, nine and twelve days after ictus were interpreted as normal. In two of these three examinations, the infarcted areas were clearly demonstrated as hyperintense lesions on T{sub 2}-weighted images. In the other examination, however, an area of mildly increased signal intensity was seen on T{sub 2}-weighted images. This case suggests that the fogging effect is also observed on MR imaging and that a small pontine infarction may be overlooked during the subacute stage. Basilar artery occlusion was detected as an absence-of-flow void in three of the ten patients. In conclusion, MR imaging proved to be a relatively useful diagnostic modality for evaluating acute and subacute pontine infarction. (author).

  13. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Kjeldsen, J

    2000-01-01

    Gastrointestinal bleeding occurs in a number of patients with hereditary hemorrhagic telangiectasia (HHT) and may lead to a high transfusion need. The aim of this study was to estimate the occurrence and severity of gastrointestinal bleeding in a geographically well defined HHT population....

  14. Ataxia Telangiectasia - A Report of a case in Port Harcourt

    African Journals Online (AJOL)

    TNHJOURNALPH

    ocularand cutaneous telangiectasia, and a predisposition to ... complications because early management with monitoring of lung ... Blymphoid malignancy and hypersensitivity to ionizing radiation. 4 Data on the prevalence of A-T in Nigeria is limited. Few cases of A-T have been reported in Nigeria. 5 The prevalence.

  15. Image findings in central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM); Bildgebung bei zentraler pontiner Myelinolyse (CPM) und extrapontiner Myelinolyse (EPM)

    Energy Technology Data Exchange (ETDEWEB)

    Oergel, Anja; Hauser, Till-Karsten; Naegele, T.; Horger, Marius [Univ. Hospital Tuebingen (Germany). Dept. of Radiology

    2017-02-15

    CT and NMR Image findings in central pontine myelinolysis (CPM) and extrapontine myelinolysis were compared with histological results. The clinical appearance and diagnosis using CT and NMR imaging are related to therapy decisions and outcome.

  16. Non-fatal hemorrhage from pontine vascular malformations

    International Nuclear Information System (INIS)

    Yamashita, Junkoh; Aoyama, Ikuhiro; Gi, Hidefuku; Handa, Hajime

    1982-01-01

    Pontine vascular malformations have usually been found at autopsy as an incidental finding or as a cause of a fatal hemorrhage. In recent years, however, computerized tomography (CT) has made it possible to visualize these lesions while the patinents are still alive. In this paper, we report 2 cases with non-fatal hemorrhages from pontine vascular malformation. The first case was a 31-year-old housewife with cheif complaints of a sensory disturbance of the left half of the body, double vision, nausea, and vomiting of 2 weeks' duration. CT revealed a small high-density mass, which was partially slightly contrast-enhanced, in the right lower pontine tegmentum, affecting the medial and lateral lemnisci, abducens, facial and acoustic nerves, brachium pontis, medial longitudinal fasciculus, corticospinal and corticobulbar fibers, and parepontine reticular formation. The second case was a 52-year-old female clerk with chief complaints of a sensory disturbance of the right half of the body and gait disturbance of 7 months' duration. CT revealed a small high-density mass, which was partially contrast-enhanced, in the left midpontine tegmentum, affecting the medial and lateral lemnisci, lateral spinothalamic tract, ventral ascending tract of V, and brachium pontis. Although there was no evidence of subarachnoid hemorrhage, both cases were deterirating progressively, probably due to tepeated small intraparenchymal hemorrhages. They were treated by radiation therapy in order to prevent further rebleeding. Fortunately, their symptoms gradually subsided, and both of them were doing well 2 years and one and a half years respectively after radiation therapy. The value of radiation therapy for this disease entity has not yet been established, but it may be worthwhile when the symptoms are worsening and there is no other suitable treatment. (J.P.N.)

  17. Potential New Therapies for Pediatric Diffuse Intrinsic Pontine Glioma

    Directory of Open Access Journals (Sweden)

    Wenyong Long

    2017-07-01

    Full Text Available Diffuse intrinsic pontine glioma (DIPG is an extensively invasive malignancy with infiltration into other regions of the brainstem. Although large numbers of specific targeted therapies have been tested, no significant progress has been made in treating these high-grade gliomas. Therefore, the identification of new therapeutic approaches is of great importance for the development of more effective treatments. This article reviews the conventional therapies and new potential therapeutic approaches for DIPG, including epigenetic therapy, immunotherapy, and the combination of stem cells with nanoparticle delivery systems.

  18. [Pontine cavernous angioma (cavernoma) with initial ENT manifestations].

    Science.gov (United States)

    Pino Rivero, V; González Palomino, A; Pantoja Hernández, C G; Trinidad Ruíz, G; Marqués Rebollo, L; Blasco Huelva, A

    2006-01-01

    We report the case of a 22 years old female who consulted us for facial parestesias, hearing loss in right ear and sudden tinnitus. Her audiometry showed an unilateral discreet sensorineural hipoacusia and the cranial IRM, a mass of 20 mm diameter in right pontine region and bulbus informed as cavernous angioma with signs of recent bleeding. The patient was sent to Neurosurgery but she refused the intervention. The risk of hemorrhage in the cavernomas is estimated at 0.25% to 1.6% per year and represents the main reason to advise a surgical treatment.

  19. Cognitive and Emotional Dysfunction after Central Pontine Myelinolysis

    Directory of Open Access Journals (Sweden)

    Tatia M. C. Lee

    2003-01-01

    Full Text Available The case of a 67-year-old right-handed Chinese man with Central Pontine Myelinolysis [CPM] is described to illustrate the resulting cognitive and emotional disturbances. A comparison of the data in this report with that in published studies suggests that ethnicity does not seem to have much effect on the symptoms of CPM. Possible underlying neural-pathological mechanisms are discussed. This case further substantiates the speculation that the brainstem plays a role in higher cognitive processes and emotional regulation.

  20. The Development of Ataxia Telangiectasia Mutated Kinase Inhibitors

    Czech Academy of Sciences Publication Activity Database

    Andrs, M.; Kobarecny, J.; Nepovimova, E.; Jun, D.; Hodný, Zdeněk; Moravcová, Simona; Hanzlíková, Hana; Kuca, K.

    2014-01-01

    Roč. 14, č. 10 (2014), s. 805-811 ISSN 1389-5575 R&D Projects: GA MŠk(CZ) CZ.1.07/2.3.00/30.0044 Grant - others:MH CZ - DRO (University Hospital Hradec Kralove(CZ) 00179906 Institutional support: RVO:68378050 Keywords : Ataxia telangiectasia mutated * cancer * chemosensitization * DNA damage response Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.903, year: 2014

  1. [Hereditary haemorrhagic telangiectasia diagnosed in connection with a traffic accident].

    Science.gov (United States)

    Sivapalan, Pradeesh; Demény, Ann Kathrin; Almind, Merete; Kjeldsen, Anette Drøhse

    2014-02-17

    Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and haemorrhage. It is manifested by mucocutaneous telangiec-tases and arteriovenous malformations in organs such as lungs, liver and brain. We present a case of HHT. A 16-year-old patient with a history of recurrent epistaxis was admitted to the local hospital with chest pain and desaturation. A CT scan revealed pulmonary arteriovenous malformations.

  2. Combination therapy of hyaluronic acid mesotherapic injections and sclerotherapy for treatment of lower leg telangiectasia without major venous insufficiency: a preliminary clinical study.

    Science.gov (United States)

    Iannitti, Tommaso; Rottigni, Valentina; Torricelli, Federica; Palmieri, Beniamino

    2014-04-01

    Telangiectasia is the dilation of dermal capillaries mainly due to hypertension and vein insufficiency. Treatments of choice for this condition are sclerotherapy with foam liquid or intradermal fiber optic laser energy delivery. The aim of this study was to assess the efficacy of a new therapeutic approach consisting in the use of polymerized hyaluronic acid mesotherapic injections following sclerotherapy in the areas of the skin affected by telangiectasia in patients without major vein insufficiency. A total of 20 women, aged between 19 and 64 years, affected by recurrent lower leg telangiectasia, were included in this study. Patients were preliminarily submitted to echo color Doppler sonography to rule out severe saphenofemoral valve and lower limb major vein insufficiency. All patients underwent 3 sessions a month of polidocanol 1% capillary injections for 2 months. This was followed by 0.1 ml cross-linked hyaluronic acid introduction in the polidocanol 1% needle track. A total of 50 mesotherapic injections (0.05 ml each) were performed on the skin surface where an ice pack was previously applied for 4 to 5 minutes. A follow-up visit was performed at 3 months. The results, based on photographic examination, were rated as follows: poor improvement (0%-50%), good improvement (51%-75%), and very good improvement (76%-100%). The side effects of the clinical procedure, in terms of pain, itching, paresthesia, ecchymosis, and relapse of telangiectasia over the treated skin surface, as well as a persisting pigmentation in the injection spots and induced benefits related to leg heaviness and comfort, were recorded. In total, 6 patients displayed a slight venous insufficiency, 3 patients displayed patent venous insufficiency, and 11 patients did not show any venous insufficiency. Before treatment, itching was present in 18 out of 20 patients, paresthesia in 15 out of 20 patients, ecchymosis in 16 out of 20 patients, and leg heaviness in 15 out of 20 patients. At the 3

  3. Image findings in central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM)

    International Nuclear Information System (INIS)

    Oergel, Anja; Hauser, Till-Karsten; Naegele, T.; Horger, Marius

    2017-01-01

    CT and NMR Image findings in central pontine myelinolysis (CPM) and extrapontine myelinolysis were compared with histological results. The clinical appearance and diagnosis using CT and NMR imaging are related to therapy decisions and outcome.

  4. Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study

    Directory of Open Access Journals (Sweden)

    Ishani Sahama

    2015-01-01

    Conclusions: Whole tract analysis of the corticomotor, corticospinal and somatosensory pathways in ataxia telangiectasia showed significant white matter degeneration along the entire length of motor circuits, highlighting that ataxia–telangiectasia gene mutation impacts the cerebellum and multiple other motor circuits in young patients.

  5. DNA-repair synthesis in ataxia telangiectasia lymphoblastoid cells

    Energy Technology Data Exchange (ETDEWEB)

    Ford, M.D.; Houldsworth, J.; Lavin, M.F. (Queensland Univ., Brisbane (Australia). Dept. of Biochemistry)

    1981-12-01

    The ability of a number of Epstein-Barr virus-transformed lymphoblastoid cells from ataxia telangiectasia (AT) patients to repair ..gamma..-radiation damage to DNA was determined. All of these AT cells were previously shown to be hypersensitive to ..gamma..-radiation. Two methods were used to determine DNA-repair synthesis: isopycnic gradient analysis and a method employing hydroxyurea to inhibit semiconservative DNA synthesis. Control, AT heterozygote and AT homozygote cells were demonstrated to have similar capacities for repair of radiation damage to DNA. In addition at high radiation doses (10-40 krad) the extent of inhibition of DNA synthesis was similar in the different cell types.

  6. Treatment of Hereditary Hemorrhagic Telangiectasia-Related Epistaxis.

    Science.gov (United States)

    Sautter, Nathan B; Smith, Timothy L

    2016-06-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an incidence of 1:5000. Recurrent, spontaneous epistaxis is the most common presenting symptom. Severity of epistaxis varies widely, from mild, self-limited nosebleeds to severe, life-threatening nasal hemorrhage. Treatment of HHT-related epistaxis presents a challenge to the otolaryngologist due to the recurrent, persistent nature of epistaxis often requiring multiple treatments. Treatment modalities range from conservative topical therapies to more aggressive surgical treatments. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Efficiency of laser treatment in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Jørgensen, Gita; Lange, Bibi; Wanscher, Jens Højberg

    2011-01-01

    Earlier studies have shown the effect of laser treatment on epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). At the present time, only very few prospective trials have been performed, and many studies are based on patients' subjective assessment of the severity of epistaxis....... This prospective study measures the objective effect of laser treatment in HHT patients with mild to moderate epistaxis. We introduce an objective measure to assess the severity of epistaxis: the bleeding time (BT). Before and after treatment, the quality of life, as measured by the patient, was assessed...

  8. Hepatic telangiectasia in Osler's disease treated with arterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Goethlin, J H; Nordgard, K; Jonsson, K; Nyman, U

    1982-02-01

    Hepatic hereditary telangiectasia in 2 females was treated with hepatic artery embolization. In one patient both peripheral and central arterial occlusion was performed; the patient died of massive gastro-intestinal bleeding 2 months later. Autopsy showed extensive regions with necrosis in the right liver lobe. In the next patient only central occlusion of the right hepatic artery was performed and the arterio-venous shunting in the left liver lobe left remaining. After a long reconvalescence period the patient recovered completely. It is advocated to centrally occlude only that hepatic artery supplying the most affected parts of the liver in Osler's disease. Thus extensive necrosis with possible ensuing death may be avoided.

  9. The lateral infratrigeminal transpontine window to deep pontine lesions.

    Science.gov (United States)

    Ferroli, Paolo; Schiariti, Marco; Cordella, Roberto; Boffano, Carlo; Nava, Simone; La Corte, Emanuele; Cavallo, Claudio; Bauer, Dario; Castiglione, Melina; Broggi, Morgan; Acerbi, Francesco; Broggi, Giovanni

    2015-09-01

    Surgery of brainstem lesions is increasingly performed despite the fact that surgical indications and techniques continue to be debated. The deep pons, in particular, continues to be a critical area in which the specific risks related to different surgical strategies continue to be examined. With the intention of bringing new knowledge into this important arena, the authors systematically examined the results of brainstem surgeries that have been performed through the lateral infratrigeminal transpontine window. Between 1990 and 2013, 29 consecutive patients underwent surgery through this window for either biopsy sampling or for removal of a deep pontine lesion. All of this work was performed at the Department of Neurosurgery of the Istituto Nazionale Neurologico "Carlo Besta", in Milan, Italy. A retrospective analysis of the findings was conducted with the intention of bringing further clarity to this important surgical strategy. The lateral infratrigeminal transpontine window was exposed through 4 different approaches: 1) classic retrosigmoid (15 cases), 2) minimally invasive keyhole retrosigmoid (10 cases), 3) translabyrinthine (1 case), and 4) combined petrosal (3 cases). No deaths occurred during the entire clinical study. The surgical complications that were observed included hydrocephalus (2 cases) and CSF leakage (1 case). In 6 (20.7%) of 29 patients the authors encountered new neurological deficits during the immediate postoperative period. All 6 of these patients had undergone lesion removal. In only 2 of these 6 patients were permanent sequelae observed at 3 months follow-up. These findings show that 93% of the patients studied did not report any permanent worsening of their neurological condition after this surgical intervention. This retrospective study supports the idea that the lateral infratrigeminal transpontine window is both a low-risk and safe corridor for either biopsy sampling or for removal of deep pontine lesions.

  10. [Disappearance of essential neck tremor after pontine base infarction].

    Science.gov (United States)

    Urushitani, M; Inoue, H; Kawamura, K; Kageyama, T; Fujisawa, M; Nishinaka, K; Udaka, F; Kameyama, M

    1996-08-01

    Mechanism of essential tremor remains unknown. Central oscillators, postulated in thalamus, inferior olive, and spinal cord are thought to be important to form rhythmicity, and finally to stimulate spinal or medullary motor cells, leading trembling muscle contraction, tremor. Among several subtypes of essential familial tremor, including hand tremor, neck tremor, and voice tremor, essential neck tremor is a common disorder, and its pathophysiology seems different from that of typical essential hand tremor, since patients with essential hand tremor are responsive to beta blocker, whereas those with neck tremor are usually not. We experienced a 41-year-old left handed woman with essential neck tremor in whom neck titubation disappeared shortly after pontine base infarct. She was our patient in the outpatient clinic with the diagnosis of essential neck tremor. The tremor developed when she was teenage, and has been localized in the neck muscles. Alcohol intake had apparently diminished it transiently. Her mother also had the tremor in her neck. She was admitted to our hospital with sudden onset of right-sided limb weakness and speech disturbance. Neurological examination showed right hemiparesis including the ipsilateral face, scanning speech, and cerebellar limb ataxia on the same side. In addition, there was no tremor in her neck. Brain MR imaging revealed a pontine base infarct at the level of middle pons, which was consistent with paramedian artery territory. The hemiparesis and speech disturbance improved almost completely after treatment, and her neck tremor has never occurred in one year follow-up. In our patient, efficacy of alcohol imply that essential neck tremor and hand tremor had same central nervous pathway including central oscillator in common, and descending cortical fibers is seemingly associated with diminishing patient's tremor. Pathophysiology of essential neck tremor was discussed with reviewing previous literature.

  11. The far lateral transpontomedullary sulcus approach to pontine cavernous malformations: technical report and surgical results.

    Science.gov (United States)

    Abla, Adib A; Benet, Arnau; Lawton, Michael T

    2014-09-01

    Pontine cavernous malformations (CMs) located on a peripheral pontine surface or the fourth ventricular floor are resectable lesions, but those deep within the pons away from a pial surface are typically observed. However, the anterior bulge of the pons formed by the brachium pontis creates a unique entry point for access to deep pontine lesions from below, working upward through the pontomedullary sulcus. We developed a transpontomedullary sulcus (TPMS) approach to these lesions. The TPMS approach used the far lateral craniotomy and upper vagoaccessory triangle to define the surgical corridor. The entry point was above the olive, lateral to the pyramidal tracts and cranial nerve (CN) VI, above the preolivary sulcus and CN XII, and medial to CNs VII and VIII and CNs IX through XI. Four patients underwent this approach. All presented with hemorrhage and CN VI palsies. All pontine CMs were resected completely. Three patients were improved or unchanged, with good outcomes (modified Rankin Scale score ≤2) in all patients. The central pons remains difficult territory to access, and new surgical corridors are needed. The bulging underbelly of the pons allows access to pontine lesions deep to the pial surface from below. The far lateral TPMS approach is a novel and more direct alternative to the retrosigmoid transmiddle cerebellar peduncle approach. Unlike the retrosigmoid approach, the TPMS approach requires minimal parenchymal transgression and uses a brainstem entry point medial to most lower CNs. Favorable results demonstrate the feasibility of resecting pontine CMs that might have been previously deemed unresectable.

  12. Clinical and genetic features of ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Bundey, S.

    1994-01-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards' hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author)

  13. Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.

    Science.gov (United States)

    Di Siena, Sara; Campolo, Federica; Gimmelli, Roberto; Di Pietro, Chiara; Marazziti, Daniela; Dolci, Susanna; Lenzi, Andrea; Nussenzweig, Andre; Pellegrini, Manuela

    2018-02-22

    Hereditary deficiencies in DNA damage signaling are invariably associated with cancer predisposition, immunodeficiency, radiation sensitivity, gonadal abnormalities, premature aging, and tissue degeneration. ATM kinase has been established as a central player in DNA double-strand break repair and its deficiency causes ataxia telangiectasia, a rare, multi-system disease with no cure. So ATM represents a highly attractive target for the development of novel types of gene therapy or transplantation strategies. Atm tamoxifen-inducible mouse models were generated to explore whether Atm reconstitution is able to restore Atm function in an Atm-deficient background. Body weight, immunodeficiency, spermatogenesis, and radioresistance were recovered in transgenic mice within 1 month from Atm induction. Notably, life span was doubled after Atm restoration, mice were protected from thymoma and no cerebellar defects were observed. Atm signaling was functional after DNA damage in vivo and in vitro. In summary, we propose a new Atm mouse model to investigate novel therapeutic strategies for ATM activation in ataxia telangiectasia disease.

  14. ATM (ataxia-telangiectasia mutated) abnormality and diseases

    International Nuclear Information System (INIS)

    Takagi, Masatoshi; Nakata, Shinichiro; Mizutani, Shuki

    2007-01-01

    Ataxia-Telangiectasia (A-T) is an autosomal recessive inherited disease due to mutation of ATM gene on chromosome 11q22.3, with major symptoms of ataxia, telangiectasia, immunodeficiency and frequent complication of cancer, and the cells have characters of chromosomal break, high sensitivity to radiation and inappropriate continuation of DNA synthesis after radiation. This review describes past and present studies of ATM functions with clinical features in the following order: Clinical symptoms and epidemiology; ATM gene mutation in A-T patients, mainly by frame-shift (80-90%); ATM, whose gene consisted from 66 exons (150 kb), functions in phosphoinositide-3-kinase related kinase family which protecting cells from stress and integrating their system, at response to DNA double strand break, and in the cell cycle checkpoints at G1/S, S and G2/M phases; ATM nonsense/missense mutations in embryonic cells leading to carcinogenesis and role of ATM in the suppression of carcinogenesis in somatic cells; Chromosomal translocation which relating to carcinogenesis, by functional defect of ATM; and Other functions of ATM in neuronal growth, immunodeficiency, carbohydrate and lipid metabolism, early senescence, and virus infection. ATM is thus an essential molecule to maintain growth and homeostasis. (T.I.)

  15. Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    Baeyens, Nicolas; Larrivée, Bruno; Ola, Roxana; Hayward-Piatkowskyi, Brielle; Dubrac, Alexandre; Huang, Billy; Ross, Tyler D.; Coon, Brian G.; Min, Elizabeth; Tsarfati, Maya; Tong, Haibin; Eichmann, Anne

    2016-01-01

    Morphogenesis of the vascular system is strongly modulated by mechanical forces from blood flow. Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal-dominant disease in which arteriovenous malformations and telangiectasias accumulate with age. Most cases are linked to heterozygous mutations in Alk1 or Endoglin, receptors for bone morphogenetic proteins (BMPs) 9 and 10. Evidence suggests that a second hit results in clonal expansion of endothelial cells to form lesions with poor mural cell coverage that spontaneously rupture and bleed. We now report that fluid shear stress potentiates BMPs to activate Alk1 signaling, which correlates with enhanced association of Alk1 and endoglin. Alk1 is required for BMP9 and flow responses, whereas endoglin is only required for enhancement by flow. This pathway mediates both inhibition of endothelial proliferation and recruitment of mural cells; thus, its loss blocks flow-induced vascular stabilization. Identification of Alk1 signaling as a convergence point for flow and soluble ligands provides a molecular mechanism for development of HHT lesions. PMID:27646277

  16. Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma

    Science.gov (United States)

    2018-06-18

    Constitutional Mismatch Repair Deficiency Syndrome; Lynch Syndrome; Malignant Glioma; Progressive Ependymoma; Progressive Medulloblastoma; Recurrent Brain Neoplasm; Recurrent Childhood Ependymoma; Recurrent Diffuse Intrinsic Pontine Glioma; Recurrent Medulloblastoma; Refractory Brain Neoplasm; Refractory Diffuse Intrinsic Pontine Glioma; Refractory Ependymoma; Refractory Medulloblastoma

  17. DNA strand breakage repair in ataxia telangiectasia fibroblast-like cells

    Energy Technology Data Exchange (ETDEWEB)

    Vincent, Jr, R A; Sheridan, III, R B; Huang, P C [Johns Hopkins Univ., Baltimore, Md. (USA). Dept. of Environmental and Biophysical Sciences

    1975-12-01

    Human diploid fibroblast-like cells derived from four patients with the genetic disease ataxia telangiectasia and from two non-mutant donors were examined for the repair of x-ray induced strand breaks in DNA. The ataxia telangiectasia cultures showed no significant differences from the non-mutant cultures in the kinetics and extent of strand repair. This suggests that the increased spontaneous and x-ray induced chromatid aberrations observed in ataxia telangiectasia cells are not caused by a defect in the repair of single strand breaks as might be suspected from a general model of aberration production.

  18. Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

    OpenAIRE

    Folgori, Laura; Scarselli, Alessia; Angelino, Giulia; Ferrari, Francesca; Antoccia, Antonio; Chessa, Luciana; Finocchi, Andrea

    2010-01-01

    Abstract Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children. We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively wi...

  19. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

    DEFF Research Database (Denmark)

    Shovlin, C L; Guttmacher, A E; Buscarini, E

    2000-01-01

    Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous ma...... in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years....... of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot...

  20. ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

    Directory of Open Access Journals (Sweden)

    Jayesh M. Bhatt

    2015-12-01

    Full Text Available Ataxia telangiectasia (A-T is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

  1. Pontine infarction with pure motor hemiparesis or hemiplegia: A prospective study

    Directory of Open Access Journals (Sweden)

    Zhang Suping

    2009-06-01

    Full Text Available Abstract Background The study aimed to prospectively observe the clinical and neuroimaging features of pontine infarction with pure motor hemiparesis (PMH or hemiplegia at early stage. Methods In 118 consecutive selected patients with the first-ever ischemic stroke within 6 hours after onset, fifty of them presented with PMH or hemiplegia and had negative acute computed tomography (CT scans, then magnetic resonance imaging (MRI confirmed the corresponding infarcts in pons or cerebrum. The clinical and neuroimaging features of the pontine infarctions were compared with those of cerebral infarctions. Results The pontine infarction with PMH or hemiplegia accounted for 10.2% (12/118 of all first-ever ischemic stroke patients and 24% (12/50 of the patients with both PMH or hemiplegia and acute negative CT scans. Compared to the patients with cerebral infarction, the patients with pontine infarction had more frequency of diabetes mellitus (50.0% vs 5.3%, P = 0.001, nonvertiginous dizziness at onset (58.3% vs 21.1%, P = 0.036 and a progressive course (33.3% vs 2.6%, P = 0.011. Conclusion The pontine infarction may present as PMH or hemiplegia with more frequency of nonvertiginous dizziness, a progressive course and diabetes mellitus. MRI can confirm the infarct location in the basal pons at early stage after stroke onset.

  2. Patient with pontine warning syndrome and bilateral posterior internuclear ophthalmoplegia: case report

    Directory of Open Access Journals (Sweden)

    Su Li

    2010-06-01

    Full Text Available Abstract Background Capsular warning syndrome was first described in 1993, featured with repetitive episodes of motor and/or sensory dysfunction without cortical signs. Recently, it has been demonstrated that clinically typical capsular warning syndrome can be associated with pontine infarct and the term “pontine warning syndrome� was coined. Case Presentation A 54-year-old woman with a history of hypertension was seen with profound left-sided hemiplegia. She had had 3 episodes of left-sided weakness before complete hemiplegia. Her speech was slurred. Left central facial palsy and hemiglossoplegia were presented. Her left plantar response was extensor and bilateral posterior internuclear ophthalmoplegia was seen on neurologic examination. Biochemical tests revealed hyperglycemia and dyslipidemia on the next day. MRI demonstrated an acute right paramedian pontine infarct. The patient was commenced on oral clopidogrel, atorvastatin and acarbose. After 23 days of hospitalization, she was discharged with severe left hemiplegia. Conclusions 1 Pontine warning syndrome may be underestimated and understudied. 2 Posterior internuclear ophthalmoplegia is a rare clinical sign in cerebrovascular diseases, while it can help to locate a brainstem lesion rather than an internal capsular one. 3 Blood pressure lowing administration may be improper for patients with pontine warning syndrome.

  3. Reduced thalamic and pontine connectivity in Kleine-Levin syndrome

    Directory of Open Access Journals (Sweden)

    Maria eEngström

    2014-04-01

    Full Text Available The Kleine-Levin syndrome is a rare sleep disorder, characterized by exceptionally long sleep episodes. The neuropathology of the syndrome is unknown and treatment is often inadequate. The aim of the study was to improve understanding of the underlying neuropathology, related to cerebral networks, in Kleine-Levin syndrome during sleep episodes. One patient with Kleine-Levin syndrome and congenital nystagmus, was investigated by resting state functional Magnetic Resonance Imaging during both asymptomatic and hypersomnic periods. Fourteen healthy subjects were also investigated as control samples. Functional connectivity was assessed from seed regions of interest in the thalamus and the dorsal pons. Thalamic connectivity was normal in the asymptomatic patient whereas the connectivity between the brain stem, including dorsal pons, and the thalamus was diminished during hypersomnia. These results suggest that the patient’s nystagmus and hypersomnia might have their pathological origin in adjacent dorsal pontine regions. This finding provides additional knowledge of the cerebral networks involved in the neuropathology of this disabling disorder. Furthermore, these findings regarding a rare syndrome have broad implications and results could be of interest to researchers and clinicians in the whole field of sleep medicine.

  4. Pre-Clinical Models of Diffuse Intrinsic Pontine Glioma

    Directory of Open Access Journals (Sweden)

    Oren J Becher

    2015-07-01

    Full Text Available Diffuse Intrinsic Pontine Glioma (DIPG is a rare and incurable brain tumor that arises in the brainstem of children predominantly between the ages of six and eight. Its intricate morphology and involvement of normal pons tissue precludes surgical resection, and the standard of care today remains fractionated radiation alone. In the past 30 years, there have been no significant advances made in the treatment of DIPG. This is largely because we lack good models of DIPG and therefore have little biological basis for treatment. In recent years however, due to increased biopsy and acquisition of autopsy specimens, research is beginning to unravel the genetic and epigenetic drivers of DIPG. Insight gleaned from these studies has led to improvements in approaches to both model these tumors in the lab, as well as to potentially treat them in the clinic. This review will detail the initial strides towards modeling DIPG in animals, which included allograft and xenograft rodent models using non-DIPG glioma cells. Important advances in the field came with the development of in vitro cell and in vivo xenograft models derived directly from autopsy material of DIPG patients or from human embryonic stem cells. Lastly, we will summarize the progress made in the development of genetically engineered mouse models of DIPG. Cooperation of studies incorporating all of these modeling systems to both investigate the unique mechanisms of gliomagenesis in the brainstem and to test potential novel therapeutic agents in a preclinical setting will result in improvement in treatments for DIPG patients.

  5. Post-surgical management of pontine hemorrhage with Ayurvedic treatment

    Directory of Open Access Journals (Sweden)

    Areekkat Manojkumar

    2013-01-01

    Full Text Available A female aged 30 years, consulted the Govt. Ayurveda Hospital, Perinthalmanna with complaints of left side of the body totally paralysed along with severe shivering of the right hand and head and the patient was bedridden for 1½ years. She was diagnosed earlier with spontaneous pontine hematoma (on 10 th Nov 2007 and had undergone midline sub occipital craniectomy (on 13 th Nov 2007 as an emergency treatment. She developed neurotrophic ulcer in the right eye with lagophthalmos post-surgery. The patient showed no improvement to treatment but further developed stromal abscess and hence paramedian tarsorraphy (4 th Jan 2008 was done. The deficits in the right eye led to diminution of vision of that eye after Allopathy treatment. The patient sought Ayurvedic treatment for a better prognosis. The patient was under Ayurvedic treatment from 5 th Mar 2009 to 24 th Nov 2009. During that period Ayurvedic treatment such as abhyaṅga (oil massage, patra poṭṭalī sveda (use of poultices and mṛdu virecana (purgation was also done. After a period of 8 months of internal medication and treatment, the shivering of the right hand and head resolved. She could move the left leg and left hand and started walking without support. There was gradual loss of vision during the course of Ayurvedic treatment. At present, the patient is able to move around and do household works on her own.

  6. Central pontine myelinolysis secondary to hypokalaemic nephrogenic diabetes insipidus.

    LENUS (Irish Health Repository)

    Davenport, C

    2010-01-01

    Central pontine myelinolysis (CPM) has been described in alcoholic patients and in the aftermath of rapid correction of chronic hyponatraemia. We describe a case of CPM occurring secondary to nephrogenic diabetes insipidus (DI), which developed as a consequence of severe hypokalaemia. A 63-year-old man with alcohol dependence was admitted to hospital with severe pulmonary sepsis and type 1 respiratory failure. On admission, he had euvolaemic hyponatraemia of 127 mmol\\/L, consistent with a syndrome of inappropriate antidiuretic hormone secondary to his pneumonia. Following admission, his plasma potassium dropped from 3.2 to a nadir of 2.3 mmol\\/L. Mineralocorticoid excess, ectopic adrenocorticotrophic hormone production and other causes of hypokalaemia were excluded. The hypokalaemia provoked significant hypotonic polyuria and a slow rise in plasma sodium to 161 mmol\\/L over several days. Plasma glucose, calcium and creatinine were normal. The polyuria did not respond to desmopressin, and subsequent correction of his polyuria and hypernatraemia after normalization of plasma potassium confirmed the diagnosis of nephrogenic DI due to hypokalaemia. The patient remained obtunded, and the clinical suspicion of osmotic demyelination was confirmed on magnetic resonance imaging. The patient remained comatose and passed away 10 days later. This is the first reported case of nephrogenic DI resulting in the development of CPM, despite a relatively slow rise in plasma sodium of less than 12 mmol\\/L\\/24 h. Coexisting alcohol abuse, hypoxaemia and hypokalaemia may have contributed significantly to the development of CPM in this patient.

  7. Levofloxacin-associated hypoglycaemia complicated by pontine myelinolysis and quadriplegia.

    Science.gov (United States)

    Vallurupalli, S; Huesmann, G; Gregory, J; Jakoby, M G

    2008-07-01

    Central pontine myelinolysis (CPM) usually presents in chronic alcoholics and in patients in whom hyponatraemia has been corrected rapidly. However, CPM may occur in other clinical circumstances, including patients with severe hypoglycaemia. We describe the occurrence of CPM and quadriplegia in a patient who experienced fluoroquinolone-associated severe hypoglycaemia. A 63-year-old man with Type 2 diabetes mellitus was admitted to hospital for resection of a large liposarcoma. Renal-dose levofloxacin was utilized as part of an antimicrobial regimen to treat post-operative peritonitis. On days 6-8 of levofloxacin therapy, the patient experienced recurrent hypoglycaemia despite total parenteral nutrition, 10% dextrose containing fluids and cessation of insulin therapy 3 days prior to the first hypoglycaemic episode. Hypoglycaemia resolved within 24 h of stopping levofloxacin. After a final and severe hypoglycaemic event, the patient developed quadriplegia and tonic left deviation of gaze. Magnetic resonance imaging revealed a high-intensity lesion in the central pons consistent with CPM. Fluoroquinolones should be considered as a potential cause of hypoglycaemia. Severe hypoglycaemia has the potential to cause white matter lesions in the pons. Putative mechanisms include failure of membrane ion channels, oligodendrocyte apoptosis and oxidative stress of glucose reperfusion. Fluoroquinolone-associated hypoglycaemia and hypoglycaemia-induced quadriplegia are both rare and we believe this is the first case report linking the two events.

  8. Developing chemotherapy for diffuse pontine intrinsic gliomas (DIPG).

    Science.gov (United States)

    Gwak, Ho-Shin; Park, Hyeon Jin

    2017-12-01

    Prognosis of diffuse intrinsic pontine glioma (DIPG) is poor, with a median survival of 10 months after radiation. At present, chemotherapy has failed to show benefits over radiation. Advances in biotechnology have enabled the use of autopsy specimens for genomic analyses and molecular profiling of DIPG, which are quite different from those of supratentorial high grade glioma. Recently, combined treatments of cytotoxic agents with target inhibitors, based on biopsied tissue, are being examined in on-going trials. Spontaneous DIPG mice models have been recently developed that is useful for preclinical studies. Finally, the convection-enhanced delivery could be used to infuse drugs directly into the brainstem parenchyma, to which conventional systemic administration fails to achieve effective concentration. The WHO glioma classification defines a diffuse midline glioma with a H3-K27M-mutation, and we expect increase of tissue confirmation of DIPG, which will give us the biological information helping the development of a targeted therapy. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Multiple capillary biochemical analyzer

    Science.gov (United States)

    Dovichi, N.J.; Zhang, J.Z.

    1995-08-08

    A multiple capillary analyzer allows detection of light from multiple capillaries with a reduced number of interfaces through which light must pass in detecting light emitted from a sample being analyzed, using a modified sheath flow cuvette. A linear or rectangular array of capillaries is introduced into a rectangular flow chamber. Sheath fluid draws individual sample streams through the cuvette. The capillaries are closely and evenly spaced and held by a transparent retainer in a fixed position in relation to an optical detection system. Collimated sample excitation radiation is applied simultaneously across the ends of the capillaries in the retainer. Light emitted from the excited sample is detected by the optical detection system. The retainer is provided by a transparent chamber having inward slanting end walls. The capillaries are wedged into the chamber. One sideways dimension of the chamber is equal to the diameter of the capillaries and one end to end dimension varies from, at the top of the chamber, slightly greater than the sum of the diameters of the capillaries to, at the bottom of the chamber, slightly smaller than the sum of the diameters of the capillaries. The optical system utilizes optic fibers to deliver light to individual photodetectors, one for each capillary tube. A filter or wavelength division demultiplexer may be used for isolating fluorescence at particular bands. 21 figs.

  10. Terapia alternativa para microvarizes e telangiectasias com uso de agulha Alternative therapy for microvarices and telangiectasias with use of needle

    Directory of Open Access Journals (Sweden)

    Raimundo Rosendo de Oliveira

    2007-03-01

    Full Text Available CONTEXTO: O desenvolvimento de terapia alternativa à convencional para a destruição de microvarizes e telangiectasias sem o uso de produtos químicos tem como objetivo reduzir os efeitos colaterais, faz uso de agulha para lise mecânica dos vasos e tem como modelo experimental galinhas da linhagem Lohmann Brown. OBJETIVO: Elaborar uma nova técnica, desenvolvendo um tratamento alternativo, sem uso de produtos químicos, objetivando a redução dos efeitos colaterais. MÉTODOS: Foram utilizadas 30 galinhas da linhagem Lohmann Brown, sendo que 15 foram submetidas ao método convencional de tratamento de microvarizes e telangiectasias (grupo-controle e as outras 15 receberam o tratamento experimental proposto (grupo experimental. O grupo experimental foi tratado com agulha de lise vascular, percorrendo todo o trajeto dos vasos escolhidos em punções escalonadas até que todo o vaso ser atingido. O grupo-controle foi tratado com oleato de monoetanolamina e glicose a 50%, puncionando-se o vaso com agulha 13 x 3 mm e injetando-se, em média, 0,3 mL da solução em cada vaso. RESULTADOS: Dos 50 vasos tratados no grupo experimental, dois apresentaram recidiva total, cinco apresentaram recidiva parcial, e 43 apresentaram destruição (lise satisfatória; enquanto que, no grupo-controle, dos 51 vasos tratados, quatro apresentaram recidiva total, 12, recidiva parcial, 22, destruição satisfatória, e em 13 ocorreu endurecimento de trajeto. CONCLUSÃO: O presente estudo demonstrou que o método experimental proposto, com uso de agulha de lise vascular, possui mais eficiência no tratamento de microvarizes se comparado com o método convencional, devido à redução das recidivas e à ausência de hipercromia de trajeto endurecido.BACKGROUND: The development of an alternative to the conventional therapy for microvarices and telangiectasias without using chemical products aims at reducing side effects, using a needle for mechanical lysis of vessels. It

  11. CT and MR imaging of splenic leiomyoma in a child with ataxia telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Coskun, M. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey); Aydingoez, Ue. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey); Tacal, T. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey); Ariyuerek, M. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey); Demirkazik, F. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey); Oguzkurt, L. [Dept. of Radiology, Hacettepe University Hospital, Ankara (Turkey)

    1995-02-01

    Computed tomographic and magnetic resonance imaging findings of a splenic leiomyoma in an 8-year-old boy with ataxia telangiectasia are presented. This is the first reported case of a splenic leiomyoma in the literature. (orig.)

  12. CT and MR imaging of splenic leiomyoma in a child with ataxia telangiectasia

    International Nuclear Information System (INIS)

    Coskun, M.; Aydingoez, Ue.; Tacal, T.; Ariyuerek, M.; Demirkazik, F.; Oguzkurt, L.

    1995-01-01

    Computed tomographic and magnetic resonance imaging findings of a splenic leiomyoma in an 8-year-old boy with ataxia telangiectasia are presented. This is the first reported case of a splenic leiomyoma in the literature. (orig.)

  13. Gestational diabetes and central pontine myelinolysis with quadriplegia: a case report.

    Science.gov (United States)

    Lee, I-Wen; Su, Mei-Tsz; Kuo, Pao-Lin; Chang, Chia-Ming

    2010-07-01

    Central pontine myelinolysis (CPM) has been reported in women with severe hyperemesis gravidarum-induced hyponatremia followed by rapid correction. Gestational diabetes with adipsia complicated by acute hypernatremia resulting in CPM has never been reported. Here is a case of a disabled female who presented with polydipsia, polyuria, seizures, fetal death in utero, hyperglycemia, and hyper-osmolar hypernatremia on her 31st gestational week. The dead fetus was delivered and the patient's plasma glucose and sodium were later stabilized. When the patient developed quadriplegia and respiratory failure 5 days later, brain magnetic resonance imaging showed central pontine and extra-pontine myelinolysis. Gestational diabetes complicated by hyper-osmolar crisis may cause fetal death and severe neurologic sequela. Early recognition and delivery of the fetus and placenta may improve the electrolyte and fluid imbalance.

  14. Progressive deficit in isolated pontine infarction: the association with etiological subtype, lesion topography and outcome.

    Science.gov (United States)

    Gökçal, Elif; Niftaliyev, Elvin; Baran, Gözde; Deniz, Çiğdem; Asil, Talip

    2017-09-01

    It is important to predict progressive deficit (PD) in isolated pontine infarction, a relatively common problem of clinical stroke practice. Traditionally, lacunar infarctions are known with their progressive course. However, few studies have analyzed the branch atheromatous disease subtype as a subtype of lacunar infarction, separately. There are also conflicting results regarding the relationship with the topography of lesion and PD. In this study, we classified etiological subtypes and lesion topography in isolated pontine infarction and aimed to investigate the association of etiological subtypes, lesion topography and clinical outcome with PD. We analyzed demographics, laboratory parameters, and risk factors of 120 patients having isolated pontine infarction and admitted within 24 h retrospectively. PD was defined as an increase in the National Institutes of Health Stroke scale ≥2 units in 5 days after onset. Patients were classified as following: large artery disease (LAA), basilar artery branch disease (BABD) and small vessel disease (SVD). Upper, middle and lower pontine infarcts were identified longitudinally. Functional outcome at 3 months was determined according to modified Rankin scores. Of 120 patients, 41.7% of the patients were classified as BABD, 30.8% as SVD and 27.5% as LAA. 23 patients (19.2%) exhibited PD. PD was significantly more frequent in patient with BABD (p 0.006). PD was numerically higher in patients with lower pontine infarction. PD was associated with BABD and poor functional outcome. It is important to discriminate the BABD neuroradiologically from other stroke subtypes to predict PD which is associated with poor functional outcome in patients with isolated pontine infarctions.

  15. Intramedullary capillary haemangioma.

    LENUS (Irish Health Repository)

    Kelleher, T

    2012-02-03

    Intramedullary capillary haemangioma is extremely rare and only four cases have been previously reported. We describe a further case, outlining the clinical, radiological, surgical and pathological features.

  16. Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.

    Science.gov (United States)

    Volkow, Nora D; Tomasi, Dardo; Wang, Gene-Jack; Studentsova, Yana; Margus, Brad; Crawford, Thomas O

    2014-06-01

    Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have reported cerebellar atrophy; but abnormalities of motor control characteristic of extrapyramidal dysfunction suggest impairment of broader motor networks. Here, we investigated possible dysfunction in other brain areas in individuals with ataxia-telangiectasia and tested for brain changes in asymptomatic relatives to assess if heterozygocity affects brain function. We used positron emission tomography and (18)F-fluorodeoxyglucose to measure brain glucose metabolism (quantified as µmol/100 g/min), which serves as a marker of brain function, in 10 adults with ataxia-telangiectasia, 19 non-affected adult relatives (12 siblings, seven parents) and 29 age-matched healthy controls. Statistical parametric mapping and region of interest analyses were used to compare individuals with ataxia-telangiectasia, asymptomatic relatives, and unrelated controls. We found that participants with ataxia-telangiectasia had lower metabolism in cerebellar hemispheres (14%, P brain stimulation. Our finding of decreased metabolism in vermis and hippocampus of asymptomatic relatives suggests that heterozygocity influences the function of these brain regions. Published by Oxford University Press on behalf of the Guarantors of Brain 2014. This work is written by US Government employees and is in the public domain in the US.

  17. Central Pontine and Extrapontine Myelinolysis: The Great Masquerader—An Autopsy Case Report

    Directory of Open Access Journals (Sweden)

    Sajish Jacob

    2014-01-01

    Full Text Available Central pontine myelinolysis is a demyelinating disorder characterized by the loss of myelin in the center of the basis pontis usually caused by rapid correction of chronic hyponatremia. The clinical features vary depending on the extent of involvement. Demyelination can occur outside the pons as well and diagnosis can be challenging if both pontine and extrapontine areas are involved. We herein report a case of myelinolysis involving pons, lateral geniculate bodies, subependymal region, and spinal cord. To the best of our knowledge, this case represents the second case of spinal cord involvement in osmotic demyelination syndrome and the first case of involvement of thoracic region of spinal cord.

  18. Central Pontine and Extrapontine Myelinolysis: The Great Masquerader—An Autopsy Case Report

    Science.gov (United States)

    Jacob, Sajish; Nikolic, Dejan; Gundogdu, Betul; Ong, Shirley

    2014-01-01

    Central pontine myelinolysis is a demyelinating disorder characterized by the loss of myelin in the center of the basis pontis usually caused by rapid correction of chronic hyponatremia. The clinical features vary depending on the extent of involvement. Demyelination can occur outside the pons as well and diagnosis can be challenging if both pontine and extrapontine areas are involved. We herein report a case of myelinolysis involving pons, lateral geniculate bodies, subependymal region, and spinal cord. To the best of our knowledge, this case represents the second case of spinal cord involvement in osmotic demyelination syndrome and the first case of involvement of thoracic region of spinal cord. PMID:24716023

  19. Magnetic resonance imaging of sequelae of central pontine myelinolysis in chronic alcohol abusers

    Energy Technology Data Exchange (ETDEWEB)

    Uchino, Akira; Kudo, Sho [Department of Radiology, Saga Medical School, 5-1-1 Nabeshima, 849-8501, Saga (Japan); Yuzuriha, Takefumi; Murakami, Masaru; Endoh, Koichi; Hiejima, Shigeto; Koga, Hiroshi [Center for Emotional and Behavional Disorders, Hizen National Hospital, 160 Mitsu, Higashisefuri, Kanzaki, 842-0192, Saga (Japan)

    2003-12-01

    Central pontine myelinolysis (CPM) is one of the serious neurological complications of alcoholism. This study evaluated magnetic resonance images of sequelae of CPM. Approximately 600 alcoholic patients were examined by a 1.0-T magnetic resonance imaging device, and 11 patients were retrospectively found to have a central pontine lesion, a presumed sequela of CPM. The lesions had various shapes and most were cavitary. In 3 of the 11 patients bilateral symmetrical oval lesions were faintly visible in the middle cerebellar peduncles. These middle cerebellar peduncular lesions were diagnosed as having Wallerian degeneration of the pontocerebellar tract secondary to CPM. (orig.)

  20. Cerebellar and pontine tegmental hypermetabolism in miller-fisher syndrome

    International Nuclear Information System (INIS)

    Kim, Yu Kyrong; Kim, Ji Soo; Lee, Won Woo; Kim, Sang Eun

    2007-01-01

    Miller Fisher syndrome (MFS) has been considered as a variant of Guillain-Barre syndrome (GBS), a type of acute immune neuropathies involving peripheral nerve system. Unlike GBS, presence of cerebellar type ataxia and supranuclear ophthalmioplesia in MFS suggests additional involvement of the central nervous system. To determine involvement of the central nervous system in MFS, we investigated the cerebral metabolic abnormalities in patients with MFS using FDG PET. Nine patients who were diagnosed as MFS based on acute ophthalmoplegia, ataxia, and areflexia without other identifiable causes participated in this study. In six patients, serum antibodies possibly related with symptom of MFS (anti- GQ1b or anti-GM1) were detected at the time of the study. With the interval of 25 26 days (range: 3-83 days) from the symptom on set, brain FDG PET were underwent in patients and compared with those from healthy controls. In group analysis comparing with healthy controls, FDG PET of patients revealed increased metabolism in the bilateral cerebellar hemispheres and vermis, and the thalamus. In contrast, the occipital cortex showed decreased metabolism. Individual analyses disclosed hypermetabolism in the cerebellar vermis or hemispheres in 5, and in the pontine tegmentum in 2 of the 9 patients. We also found that the cerebellar vermian hypermetabolism was inversely correlated with the interval between from the symptom on set to PET study. Moreover, follow-up PET of a patient demonstrated that cerebellar hypermetabolism decreased markedly with an improvement of the ophthalmoplegia and ataxia. These findings indicate an involvement of the central nervous system in MFS and suggest an antibody-associated acute inflammatory process as a mechanism of this disorder

  1. Cerebellar and pontine tegmental hypermetabolism in miller-fisher syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yu Kyrong; Kim, Ji Soo; Lee, Won Woo; Kim, Sang Eun [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2007-07-01

    Miller Fisher syndrome (MFS) has been considered as a variant of Guillain-Barre syndrome (GBS), a type of acute immune neuropathies involving peripheral nerve system. Unlike GBS, presence of cerebellar type ataxia and supranuclear ophthalmioplesia in MFS suggests additional involvement of the central nervous system. To determine involvement of the central nervous system in MFS, we investigated the cerebral metabolic abnormalities in patients with MFS using FDG PET. Nine patients who were diagnosed as MFS based on acute ophthalmoplegia, ataxia, and areflexia without other identifiable causes participated in this study. In six patients, serum antibodies possibly related with symptom of MFS (anti- GQ1b or anti-GM1) were detected at the time of the study. With the interval of 25 26 days (range: 3-83 days) from the symptom on set, brain FDG PET were underwent in patients and compared with those from healthy controls. In group analysis comparing with healthy controls, FDG PET of patients revealed increased metabolism in the bilateral cerebellar hemispheres and vermis, and the thalamus. In contrast, the occipital cortex showed decreased metabolism. Individual analyses disclosed hypermetabolism in the cerebellar vermis or hemispheres in 5, and in the pontine tegmentum in 2 of the 9 patients. We also found that the cerebellar vermian hypermetabolism was inversely correlated with the interval between from the symptom on set to PET study. Moreover, follow-up PET of a patient demonstrated that cerebellar hypermetabolism decreased markedly with an improvement of the ophthalmoplegia and ataxia. These findings indicate an involvement of the central nervous system in MFS and suggest an antibody-associated acute inflammatory process as a mechanism of this disorder.

  2. Degenerative pontine lesions in patients with familial narcolepsy.

    Science.gov (United States)

    Stepień, Adam; Staszewski, Jacek; Domzał, Teofan M; Tomczykiewicz, Kazimierz; Skrobowska, Ewa; Durka-Kesy, Marta

    2010-01-01

    Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1-5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy. The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales. In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed. The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.

  3. Glutamine deprivation induces interleukin-8 expression in ataxia telangiectasia fibroblasts.

    Science.gov (United States)

    Kim, Min-Hyun; Kim, Aryung; Yu, Ji Hoon; Lim, Joo Weon; Kim, Hyeyoung

    2014-05-01

    To investigate whether glutamine deprivation induces expression of inflammatory cytokine interleukin-8 (IL-8) by determining NF-κB activity and levels of oxidative indices (ROS, reactive oxygen species; hydrogen peroxide; GSH, glutathione) in fibroblasts isolated from patients with ataxia telangiectasia (A-T). We used A-T fibroblasts stably transfected with empty vector (Mock) or with human full-length ataxia telangiectasia mutated (ATM) cDNA (YZ5) and mouse embryonic fibroblasts (MEFs) transiently transfected with ATM small interfering RNA (siRNA) or with non-specific control siRNA. The cells were cultured with or without glutamine or GSH. ROS levels were determined using a fluorescence reader and confocal microscopy. IL-8 or murine IL-8 homolog, keratinocyte chemoattractant (KC), and hydrogen peroxide levels in the medium were determined by enzyme-linked immunosorbent assay and colorimetric assay. GSH level was assessed by enzymatic assay, while IL-8 (KC) mRNA level was measured by reverse transcription-polymerase chain reaction (RT-PCR) and/or quantitative real-time PCR. NF-κB DNA-binding activity was determined by electrophoretic mobility shift assay. Catalase activity and ATM protein levels were determined by O2 generation and Western blotting. While glutamine deprivation induced IL-8 expression and increased NF-κB DNA-binding activity in Mock cells, both processes were decreased by treatment of cells with glutamine or GSH or both glutamine and GSH. Glutamine deprivation had no effect on IL-8 expression or NF-κB DNA-binding activity in YZ5 cells. Glutamine-deprived Mock cells had higher oxidative stress indices (increases in ROS and hydrogen peroxide, reduction in GSH) than glutamine-deprived YZ5 cells. In Mock cells, glutamine deprivation-induced oxidative stress indices were suppressed by treatment with glutamine or GSH or both glutamine and GSH. GSH levels and catalase activity were lower in Mock cells than YZ5 cells. MEFs transfected with ATM siRNA and

  4. Research on Potential Biomarkers in Hereditary Haemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Luisa Maria Botella

    2015-03-01

    Full Text Available Hereditary Hemorrhagic Telangiectasia (HHT is a genetically heterogeneous disorder, involving mutations in two predominant genes known as Endoglin (ENG; HHT1 and Activin receptor like kinase 1 (ACVRL1/ALK1; HHT2, as well as in some less frequent genes, such as MADH4/SMAD4 (JP-HHT or BMP9/GDF2 (HHT5. The diagnosis of HHT patients currently remains at the clinical level, according to the Curaçao criteria, whereas the molecular diagnosis is used to confirm or rule out suspected HHT cases, especially when a well characterized index case is present in the family or in an isolated population. Unfortunately, many suspected patients do not present a clear HHT diagnosis or do not show pathogenic mutations in HHT genes, prompting the need to investigate additional biomarkers of the disease. Here, several HHT biomarkers and novel methodological approaches developed during the last years will be reviewed. On one hand, products detected in plasma or serum samples: soluble proteins (VEGF, TGF-β1, soluble endoglin, angiopoietin-2 and microRNA variants (miR-27a, miR-205, miR-210. On the other hand, differential HHT gene expression fingerprinting, Next Generation Sequencing (NGS of a panel of genes involved in HHT, and infrared spectroscopy combined with Artificial Neural Network (ANN patterns will also be reviewed. All these biomarkers might help to improve and refine HHT diagnosis by distinguishing from the non-HHT population.

  5. The ATM gene and the radiobiology of ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Jorgensen, T.J.; Shiloh, Y.

    1996-01-01

    Ataxia-telangiectasia (A-T) is the classic human genetic disease involving severe ionizing radiation sensitivity and as such has been intensely studied by radiation biologists over the years. Unlike its counterpart for UV light sensitivity -xeroderma pigmentosum - A-T has no obvious DNA repair defect; and there has been much speculation as to the mechanism underlying the altered radioresponses associated with this disease. The gene defective in A-T (ATM) has recently been cloned, and its primary coding sequence determined. The primary sequence of the ATM protein suggests that it has some regulatory functions related to cellular radioresponse and maintenance of genomic stability, and shares these functions with a growing family of other proteins in various organisms. At this juncture it is appropriate to review our current knowledge about the radiobiology of A-T and reflect on the possible radiobiological mechanisms that are suggested by the ATM gene itself. This article will attempt briefly to review current knowledge about the radiobiology of A-T and to introduce new speculations about underlying radiobiological mechanisms that are suggested by the primary amino acid sequence of the predicted ATM gene product. (Author)

  6. Defect in radiation signal transduction in ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Lavin, M.F.

    1994-01-01

    Exposure of mammalian cells to ionizing radiation causes a delay in progression through the cycle at several checkpoints. Cells from patients with ataxia-telangiectasia (A-T) ignore these checkpoint controls postirradiation. The tumour suppressor gene product p53 plays a key role at the G 1 /S checkpoint preventing the progression of cells into S phase. The induction of p53 by radiation is reduced and/or delayed in A-T cells, which appears to account for the failure of delay at the G 1 /S checkpoint. We have investigated further this defect in radiation signal transduction in A-T. While the p53 response was defective after radiation, agents that interfered with cell cycle progression such as mimosine, aphidicolin and deprivation of serum led to a normal p53 response in A-T cells. None of these agents caused breaks in DNA, as determined by pulse-field gel electrophoresis, in order to elicit the response. Since this pathway is mediated by protein kinases, we investigated the activity of several of these enzymes in control and A-T cells. Ca +2 -dependent and -independent protein kinase C activities were increased by radiation to the same extent in the two cell types, a variety of serine/threonine protein kinase activities were approximately the same and anti-tyrosine antibodies failed to reveal any differences in protein phosphorylation between A-T and control cells. (author)

  7. Bevacizumab: an option for refractory epistaxis in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Amann, Arno; Steiner, Normann; Gunsilius, Eberhard

    2015-08-01

    Recurrent epistaxis in hereditary haemorrhagic telangiectasia (HHT) patients significantly decreases their quality of life. Treatment in therapy refractory patients is limited although various options have been tested so far. Herein, one patient is described that was treated for HHT for over 20 years with only intermediate benefits. As epistaxis duration and frequency increased continuously, bevacizumab 5 mg/kg was administered every 2 weeks. During the time of treatment (six doses) and up to 3 month afterwards clinical symptoms, blood pressure, cardiac output, pulmonary arterial hypertension (PAH), bleeding duration and frequency were assessed as criteria for treatment benefit. Duration and frequency of epistaxis decreased immediately after the first application resulting in reduced need of blood transfusions. After completion of six cycles, a further decrease in frequency and duration of bleeding was noted. Cardiac output and PAH decreased or remained stable, respectively, during time and after treatment. No increase in blood pressure could be found but a significant increase in heart rate was experienced after completion of all six applications. Unfortunately, the patient died due to a cerebral abscess. Bevacizumab led to an improvement of HHT related epistaxis, refractory to other treatments.

  8. Automatic telangiectasia analysis in dermoscopy images using adaptive critic design.

    Science.gov (United States)

    Cheng, B; Stanley, R J; Stoecker, W V; Hinton, K

    2012-11-01

    Telangiectasia, tiny skin vessels, are important dermoscopy structures used to discriminate basal cell carcinoma (BCC) from benign skin lesions. This research builds off of previously developed image analysis techniques to identify vessels automatically to discriminate benign lesions from BCCs. A biologically inspired reinforcement learning approach is investigated in an adaptive critic design framework to apply action-dependent heuristic dynamic programming (ADHDP) for discrimination based on computed features using different skin lesion contrast variations to promote the discrimination process. Lesion discrimination results for ADHDP are compared with multilayer perception backpropagation artificial neural networks. This study uses a data set of 498 dermoscopy skin lesion images of 263 BCCs and 226 competitive benign images as the input sets. This data set is extended from previous research [Cheng et al., Skin Research and Technology, 2011, 17: 278]. Experimental results yielded a diagnostic accuracy as high as 84.6% using the ADHDP approach, providing an 8.03% improvement over a standard multilayer perception method. We have chosen BCC detection rather than vessel detection as the endpoint. Although vessel detection is inherently easier, BCC detection has potential direct clinical applications. Small BCCs are detectable early by dermoscopy and potentially detectable by the automated methods described in this research. © 2011 John Wiley & Sons A/S.

  9. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

    International Nuclear Information System (INIS)

    Tavani, F.; Zimmerman, R.A.; Gatti, R.; Bingham, P.; Berry, G.T.; Sullivan, K.

    2003-01-01

    We describe MRI of the brain in 19 patients with ataxia-telangiectasia (AT) and correlate the appearances with the degree of neurologic deficit. We examined 10 male and nine female patients; 17 were aged between 2 and 12 years (mean 8 years) but a woman and her brother were 35 and 38 years old, and had a variant of AT. Ataxia was the first recognized sign of the disease in every patient. We detected the following patterns of cerebellar atrophy: in the youngest patient, aged 2 years, the study was normal; in the five next youngest patients 3-7 years of age, the lateral cerebellum and superior vermis showed the earliest changes of atrophy; and all but one of the other patients had moderate to marked diffuse atrophy of vermis and cerebellar hemispheres. There were 12 patients aged 9 years and above; one, who was normal, was 9 years old. The five patients who at the time of examination were unable to walk all had diffuse atrophy involving both vermis and cerebellar hemispheres. (orig.)

  10. An epistaxis severity score for hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Hoag, Jeffrey B; Terry, Peter; Mitchell, Sally; Reh, Douglas; Merlo, Christian A

    2010-04-01

    Hereditary hemorrhagic telangiectasia (HHT)-related epistaxis leads to alterations in social functioning and quality of life. Although more than 95% experience epistaxis, there is considerable variability of severity. Because no standardized method exists to measure epistaxis severity, the purpose of this study was to determine factors associated with patient-reported severity to develop a severity score. Prospective, survey-based study. HHT care providers and a focus group of patients were interviewed to determine epistaxis-associated factors. From this, an electronic survey was developed and administered to patients with HHT. Descriptive analyses were performed with calculations of means and medians for continuous and proportions for categorical variables. Multiple ordinal logistic and linear regression models were developed to determine risk factors for epistaxis severity. Nine hundred respondents from 21 countries were included. Eight hundred fifty-five (95%) subjects reported epistaxis. The mean (standard deviation) age was 52.1 (13.9) years, and 61.4% were female. Independently associated risk factors for self-reported epistaxis severity included epistaxis frequency (odds ratio [OR] 1.57), duration (OR 2.17), intensity (OR 2.45), need for transfusion (OR 2.74), anemia (OR 1.44), and aggressiveness of treatment required (OR 1.53, P epistaxis severity in patients with HHT include frequency, duration, and intensity of episodes; invasiveness of prior therapy required to stop epistaxis; anemia; and the need for blood transfusion. From these factors, an epistaxis severity score will be presented.

  11. Clinical and Radiological Features of Wallerian Degeneration of the Middle Cerebellar Peduncles Secondary to Pontine Infarction

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Zhang

    2018-01-01

    Conclusions: Despite the rarity of bilateral and symmetrical lesions of MCPs, secondary WD should be highly suspected if these lesions occur within 6 months after pontine infarction, particularly paramedian pons. Conventional MRI appears to be a relatively sensitive method for detecting WD of MCPs, which might affect the short-term prognosis.

  12. Clinical significance of pontine high signals identified on magnetic resonance imaging

    International Nuclear Information System (INIS)

    Watanabe, Masaki; Takahashi, Akira; Arahata, Yutaka; Motegi, Yoshimasa; Furuse, Masahiro.

    1993-01-01

    Spin-echo magnetic resonance imaging (MRI) was evaluated to 530 cases in order to investigate the clinical significance of pontine high signals. The subjects comprised 109 cases of pontine infarction with high signal on T 2 -weighted image and low signal on T 1 -weighted image (PI group), 145 of pontine high signal with high signal on T 2 -weighted image but normal signal on T 1 -weighted image (PH group) and 276 of age-matched control without abnormality either on T 1 or T 2 -weighted images (AC group). Subjective complaints such as vertigo-dizziness were more frequent in the PH group than in the PI group. In both PI and groups, periventricular hyperintensity as well as subcortical high signals in the supratentorium were more severe than in the AC group. These degrees were higher in the PI group than in the PH group. In conclusion, PH as well as PI may result from diffuse arteriosclerosis and PH is considered to be an early finding of pontine ischemia. (author)

  13. A neurotological study of patients with pontine hyperintense lesions on T2 weighted MRI

    International Nuclear Information System (INIS)

    Seo, Toru; Tominaga, Satoru; Yukimasa, Akiko; Oku, Masaya; Sakagami, Masafumi

    2002-01-01

    Pontine hyperintense lesions seen on T2-weighted MRI were thought to be related to disequilibrium. Some of these lesions have a low signal on T1-weighted imaging, while others have an iso-signal. The purpose of this study was to clarify the relationship between neurological findings and pontine lesions detected by MRI. The subjects were 11 patients (6 males, 5 females; age range: 30 to 83 years [mean: 64.1 years]) with pontine hyperintense lesions identified on T2-weighted MRI. We compared the clinical signs and the MRI findings. Six of the patients had low-intensity areas on T1-weighted images, and the other 5 had iso-intensity areas. Six patients complained of vertigo, and 5 complained of dizziness. Eight complained of positionaly evoked disequilibrium. Positional nystagmus was seen in 4 patients. In 9 patients, abnormalities were found on the ENG test, including the saccadic eye movement test, ETT, and OKP. Numbness on the lips occurred in 2 patients, and cerebellar signs were present in 4. None of the patients had facial paralysis. Disequilibrium originating in the central nervous system was suggested in 10 patients. Clinical examinations revealed similar findings in patients with a low signal on T1-weighted MRI and those with an iso-signal. Our results indicate that pontine lesions identified by T2-weighted MRI cause vertigo or dizziness, and, in most cases, these lesions cause abnormal neurological or neurological abnormalities. (author)

  14. A neurotological study of patients with pontine hyperintense lesions on T2 weighted MRI

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Toru; Tominaga, Satoru; Yukimasa, Akiko; Oku, Masaya; Sakagami, Masafumi [Hyogo Coll. of Medicine, Nishinomiya (Japan)

    2002-03-01

    Pontine hyperintense lesions seen on T2-weighted MRI were thought to be related to disequilibrium. Some of these lesions have a low signal on T1-weighted imaging, while others have an iso-signal. The purpose of this study was to clarify the relationship between neurological findings and pontine lesions detected by MRI. The subjects were 11 patients (6 males, 5 females; age range: 30 to 83 years [mean: 64.1 years]) with pontine hyperintense lesions identified on T2-weighted MRI. We compared the clinical signs and the MRI findings. Six of the patients had low-intensity areas on T1-weighted images, and the other 5 had iso-intensity areas. Six patients complained of vertigo, and 5 complained of dizziness. Eight complained of positionaly evoked disequilibrium. Positional nystagmus was seen in 4 patients. In 9 patients, abnormalities were found on the ENG test, including the saccadic eye movement test, ETT, and OKP. Numbness on the lips occurred in 2 patients, and cerebellar signs were present in 4. None of the patients had facial paralysis. Disequilibrium originating in the central nervous system was suggested in 10 patients. Clinical examinations revealed similar findings in patients with a low signal on T1-weighted MRI and those with an iso-signal. Our results indicate that pontine lesions identified by T2-weighted MRI cause vertigo or dizziness, and, in most cases, these lesions cause abnormal neurological or neurological abnormalities. (author)

  15. Clinical significance of pontine high signals identified on magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, Masaki; Takahashi, Akira (Nagoya Univ. (Japan). Faculty of Medicine); Arahata, Yutaka; Motegi, Yoshimasa; Furuse, Masahiro

    1993-07-01

    Spin-echo magnetic resonance imaging (MRI) was evaluated to 530 cases in order to investigate the clinical significance of pontine high signals. The subjects comprised 109 cases of pontine infarction with high signal on T[sub 2]-weighted image and low signal on T[sub 1]-weighted image (PI group), 145 of pontine high signal with high signal on T[sub 2]-weighted image but normal signal on T[sub 1]-weighted image (PH group) and 276 of age-matched control without abnormality either on T[sub 1] or T[sub 2]-weighted images (AC group). Subjective complaints such as vertigo-dizziness were more frequent in the PH group than in the PI group. In both PI and groups, periventricular hyperintensity as well as subcortical high signals in the supratentorium were more severe than in the AC group. These degrees were higher in the PI group than in the PH group. In conclusion, PH as well as PI may result from diffuse arteriosclerosis and PH is considered to be an early finding of pontine ischemia. (author).

  16. Amfetaminmisbrug er en mulig årsag til pontin hæmoragi

    DEFF Research Database (Denmark)

    Winsløw, Frederik; Winsløw, Ulrik; Papina, Maria

    2017-01-01

    This is a case report of a 55-year-old male, who was admitted due to right-sided sensorimotor deficits and one-and-a-half syndrome He had snorted 5 g of amphetamine over 24 h two months prior to admission. He was normotensive on admission. A CT brain scan showed left pontine haemorrhage, but a CT...... abuse....

  17. Effective Drug Delivery in Diffuse Intrinsic Pontine Glioma : A Theoretical Model to Identify Potential Candidates

    NARCIS (Netherlands)

    El-Khouly, Fatma E; van Vuurden, Dannis G; Stroink, Thom; Hulleman, Esther; Kaspers, Gertjan J L; Hendrikse, N Harry; Veldhuijzen van Zanten, Sophie E M

    2017-01-01

    Despite decades of clinical trials for diffuse intrinsic pontine glioma (DIPG), patient survival does not exceed 10% at two years post-diagnosis. Lack of benefit from systemic chemotherapy may be attributed to an intact bloodbrain barrier (BBB). We aim to develop a theoretical model including

  18. Diffuse intrinsic pontine gliomas: A systematic update on clinical trials and biology

    NARCIS (Netherlands)

    Jansen, M. H. A.; van Vuurden, D. G.; Vandertop, W. P.; Kaspers, G. J. L.

    2012-01-01

    Patients with diffuse intrinsic pontine gliomas (DIPG) have a poor prognosis. Although DIPG constitute only 10-15% of all pediatric brain tumors, they are the main cause of death in this group. Despite 26 clinical trials in newly diagnosed DIPG in the past 5 years (including several targeted

  19. The impact of infrastructural works on regional settlement systems : the Via Appia and the Pontine marshes

    NARCIS (Netherlands)

    de Haas, Tymon; Tol, Gijs; Armstrong, Kate; Attema, Peter; Martinez, José; Nogales Basarrate, Trinidad; Rodà de Llanza, Isabel

    2015-01-01

    This paper introduces a project that investigates developments in settlement and infrastructure in the Pontine Plain (Lazio, Central Italy) through geographic models and new fieldwork. The preliminary results of this fieldwork on two sites along the Via Appia, Forum Appii and Ad Medias, show that

  20. Pontine encephalocele and abnormalities of the posterior fossa following transclival endoscopic endonasal surgery.

    Science.gov (United States)

    Koutourousiou, Maria; Filho, Francisco Vaz Guimaraes; Costacou, Tina; Fernandez-Miranda, Juan C; Wang, Eric W; Snyderman, Carl H; Rothfus, William E; Gardner, Paul A

    2014-08-01

    Transclival endoscopic endonasal surgery (EES) has recently been used for the treatment of posterior fossa tumors. The optimal method of reconstruction of large clival defects following EES has not been established. A morphometric analysis of the posterior fossa was performed in patients who underwent transclival EES to compare those with observed postoperative anatomical changes (study group) to 50 normal individuals (anatomical control group) and 41 matched transclival cases with preserved posterior fossa anatomy (case-control group) using the same parameters. Given the absence of clival bone following transclival EES, the authors used the line between the anterior commissure and the basion as an equivalent to the clival plane to evaluate the location of the pons. Four parameters were studied and compared in the two populations: the pontine location/displacement, the maximum anteroposterior (AP) diameter of the pons, the maximum AP diameter of the fourth ventricle, and the cervicomedullary angle (CMA). All measurements were performed on midsagittal 3-month postoperative MR images in the study group. Among 103 posterior fossa tumors treated with transclival EES, 14 cases (13.6%) with postoperative posterior fossa anatomy changes were identified. The most significant change was anterior displacement of the pons (transclival pontine encephalocele) compared with the normal location in the anatomical control group (p 50% of the clivus) and dura. Nine (64.3%) of the 14 patients were overweight (body mass index [BMI] > 25 kg/m(2)). An association between BMI and the degree of pontine encephalocele was observed, but did not reach statistical significance. The use of a fat graft as part of the reconstruction technique following transclival EES with dural opening was the single significant factor that prevented pontine displacement (p = 0.02), associated with 91% lower odds of pontine encephalocele (OR = 0.09, 95% CI 0.01-0.77). The effect of fat graft reconstruction was

  1. An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.

    Science.gov (United States)

    Hunter, Benjamin N; Timmins, Benjamin H; McDonald, Jamie; Whitehead, Kevin J; Ward, P Daniel; Wilson, Kevin F

    2016-04-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia whose hallmark symptom is spontaneous recurrent epistaxis. Two major genetic subtypes of this syndrome are HHT1 and HHT2. Severity of epistaxis ranges from occasional low-volume bleeding to frequent large-volume hemorrhage. This study evaluated the severity and progression of epistaxis in HHT1 versus HHT2. Retrospective cohort study. A retrospective chart review was performed for 183 genotyped HHT patients seen at our center from 2010 to 2013. Data collected included epistaxis severity score (ESS), age of epistaxis onset, number and type of treatments, age at which treatments were sought, complete blood count values, ferritin, number of telangiectases, blood transfusions, iron therapy history, and patient demographics. 115 subjects with HHT2 were compared to 68 with HHT1. Subjects with HHT2 had a higher ESS compared to HHT1 (P = .043) and a later age of onset of epistaxis (P = .005). HHT2 subjects were more likely to use oral iron (P = .032) and were more likely to seek interventions to control their epistaxis (P = .029). HHT2 is associated with more severe epistaxis and a subsequent higher rate of interventions, requiring more aggressive therapy as compared to HHT1. 4. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  2. Nasal Lobular Capillary Hemangioma

    Directory of Open Access Journals (Sweden)

    Prashant Patil

    2013-01-01

    Full Text Available Nasal lobular capillary hemangioma is a rare benign tumor of the paranasal sinuses. This lesion is believed to grow rapidly in size over time. The exact etiopathogenesis is still a dilemma. We discuss a case of nasal lobular capillary hemangioma presenting with a history of epistaxis. Contrast enhanced computed tomography of paranasal sinuses revealed an intensely enhancing soft-tissue mass in the left nasal cavity and left middle and inferior meati with no obvious bony remodeling or destruction. We present imaging and pathologic features of nasal lobular capillary hemangioma and differentiate it from other entities like nasal angiofibroma.

  3. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets.

    Directory of Open Access Journals (Sweden)

    Claire L Shovlin

    Full Text Available BACKGROUND: Pulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge safely in pulmonary capillaries/arterioles. Pulmonary arteriovenous malformations compromise capillary bed filtration, and are commonly associated with ischaemic stroke. Cohorts with CT-scan evident malformations associated with the highest contrast echocardiographic shunt grades are known to be at higher stroke risk. Our goal was to identify within this broad grouping, which patients were at higher risk of stroke. METHODOLOGY: 497 consecutive patients with CT-proven pulmonary arteriovenous malformations due to hereditary haemorrhagic telangiectasia were studied. Relationships with radiologically-confirmed clinical ischaemic stroke were examined using logistic regression, receiver operating characteristic analyses, and platelet studies. PRINCIPAL FINDINGS: Sixty-one individuals (12.3% had acute, non-iatrogenic ischaemic clinical strokes at a median age of 52 (IQR 41-63 years. In crude and age-adjusted logistic regression, stroke risk was associated not with venous thromboemboli or conventional neurovascular risk factors, but with low serum iron (adjusted odds ratio 0.96 [95% confidence intervals 0.92, 1.00], and more weakly with low oxygen saturations reflecting a larger right-to-left shunt (adjusted OR 0.96 [0.92, 1.01]. For the same pulmonary arteriovenous malformations, the stroke risk would approximately double with serum iron 6 µmol/L compared to mid-normal range (7-27 µmol/L. Platelet studies confirmed overlooked data that iron deficiency is associated with exuberant platelet aggregation to serotonin (5HT, correcting following iron treatment. By MANOVA, adjusting for participant and 5HT, iron or ferritin explained 14% of the variance in log-transformed aggregation-rate (p = 0

  4. Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).

    Science.gov (United States)

    Zarrabeitia, Roberto; Fariñas-Álvarez, Concepción; Santibáñez, Miguel; Señaris, Blanca; Fontalba, Ana; Botella, Luisa María; Parra, José Antonio

    2017-01-23

    There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom. To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population. Between January 1 st 2005 and December 31 st 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was estimated classified as mild, moderate or severe. Patients with HHT had greater problems than the general population in the five dimensions of the EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index value, patients with HHT also scored lower than the general population, particularly older patients, males, and patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective perception of the severity of epistaxis correlated strongly with the VAS and social index values. The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis.

  5. Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

    Directory of Open Access Journals (Sweden)

    Antoccia Antonio

    2010-04-01

    Full Text Available Abstract Ataxia-telangiectasia (A-T is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children. We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T. A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.

  6. Health risks for ataxia-telangiectasia mutated heterozygotes : a systematic review, meta-analysis and evidence-based guideline

    NARCIS (Netherlands)

    van Os, N J H; Roeleveld, N; Weemaes, C M R; Jongmans, M C J; Janssens, G O; Taylor, A M R; Hoogerbrugge, N; Willemsen, Michel A A P

    Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also carry a pathogenic ATM mutation. Female carriers

  7. Dyspnea with anemia turned out to be a case of hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Amitabha Sengupta

    2013-01-01

    Full Text Available Hereditary hemorrhagic telangiectasia (HHT is a rare autosomal dominant inherited disorder of the vascular system. It can be asymptomatic but when symptomatic most common presentation being epistaxis. It can involve any organs of the body like lungs, skin, liver brain, GI mucosa etc. We are reporting a case of HHT presented to us with dyspnea and severe anemia. He had arteriovenous malformations of different visceral organs and telangiectasia of skin along with presence of similar history in first-degree relatives.

  8. Characteristic signal changes in the pontine base on T2- and multishot diffusion-weighted images in spinocerebellar ataxia type 1

    International Nuclear Information System (INIS)

    Adachi, M.; Kawanami, T.; Ohshima, H.; Hosoya, T.

    2006-01-01

    The aim of the present study was to demonstrate characteristic signal changes of the pontine base on T2-weighted images of patients with SCA 1, and to elucidate the relationship between abnormal high-intensities of the pontine base on T2-weighted images and the findings on multishot diffusion-weighted images. We assessed abnormal signals of the pontine base on T2-weighted images from 50 controls and six patients with SCA 1 diagnosed by genetic analysis. At the same time, we evaluated the degeneration of the transverse pontine fibers in the pontine base by multishot diffusion-weighted imaging. A midline high-intensity was seen in the pontine base on T2-weighted images in two of the 50 controls and five of the six patients with SCA 1. The midline high-intensity had a sensitivity of 83.3% for patients and a specificity of 96.0% for controls. Multishot diffusion-weighted imaging demonstrated the degeneration - the amorphous-pattern signal - of the transverse pontine fibers in four (66.7%) of the six patients. In the other two patients, the zebra-pattern signal was seen in the pontine base. The midline high-intensity on T2-weighted images appears to be one of characteristic MRI findings of SCA 1. Multishot diffusion-weighted imaging suggested that the midline high-intensity should reflect the degeneration of the transverse pontine fibers. (orig.)

  9. Visual hallucinations and pontine demyelination in a child: possible REM dissociation?

    Science.gov (United States)

    Vita, Maria Gabriella; Batocchi, Anna Paola; Dittoni, Serena; Losurdo, Anna; Cianfoni, Alessandro; Stefanini, Maria Chiara; Vollono, Catello; Della Marca, Giacomo; Mariotti, Paolo

    2008-12-15

    An 11 year-old-boy acutely developed complex visual and acoustic hallucinations. Hallucinations, consisting of visions of a threatening, evil character of the Harry Potter saga, persisted for 3 days. Neurological and psychiatric examinations were normal. Ictal EEG was negative. MRI documented 3 small areas of hyperintense signal in the brainstem, along the paramedian and lateral portions of pontine tegmentum, one of which showed post-contrast enhancement. These lesions were likely of inflammatory origin, and treatment with immunoglobulins was started. Polysomnography was normal, multiple sleep latency test showed a mean sleep latency of 8 minutes, with one sleep-onset REM period. The pontine tegmentum is responsible for REM sleep regulation, and contains definite "REM-on" and "REM-off" regions. The anatomical distribution of the lesions permits us to hypothesize that hallucinations in this boy were consequent to a transient impairment of REM sleep inhibitory mechanisms, with the appearance of dream-like hallucinations during wake.

  10. Sixth nerve palsy - Window to a dreaded brain tumor in children (pontine glioma

    Directory of Open Access Journals (Sweden)

    Sujit Das

    2017-01-01

    Full Text Available Pontine glioma is a rare tumor and exclusively occurs in children. It originates from the glial (connective/supporting cells of the brain. In children, they are the leading cause of deaths from brain tumors. The usual age of presentation is later half of first decade. Most of the children die within 18 months of diagnosis. It mostly affects 6th and 7th cranial nerves along with hearing defect.

  11. Central pontine myelinolysis (CPM and extrapontine myelinolysis (EPM following concurrent chemoradiotherapy for nasopharyngeal carcinoma

    Directory of Open Access Journals (Sweden)

    Chen-Hui Chong

    2016-06-01

    Full Text Available Central pontine myelinolysis (CPM is a disease that may present with coma, quadriplegia, or no symptoms at all. It is an iatrogenic demyelinating disease caused most frequently by overzealous correction of chronic hyponatremia and excessive swings in serum osmolality. Lesions can also occur outside the pons as extrapontine myelinolysis (EPM. Herein we have reported a case of CPM and EPM in a patient after chemoradiotherapy for recurrent nasopharyngeal carcinoma.

  12. The Role of Pontin and Reptin in Cellular Physiology and Cancer Etiology

    Directory of Open Access Journals (Sweden)

    Yu-Qian Mao

    2017-08-01

    Full Text Available Pontin (RUVBL1, TIP49, TIP49a, Rvb1 and Reptin (RUVBL2, TIP48, TIP49b, Rvb2 are highly conserved ATPases of the AAA+ (ATPases Associated with various cellular Activities superfamily and are involved in various cellular processes that are important for oncogenesis. First identified as being upregulated in hepatocellular carcinoma and colorectal cancer, their overexpression has since been shown in multiple cancer types such as breast, lung, gastric, esophageal, pancreatic, kidney, bladder as well as lymphatic, and leukemic cancers. However, their exact functions are still quite unknown as they interact with many molecular complexes with vastly different downstream effectors. Within the nucleus, Pontin and Reptin participate in the TIP60 and INO80 complexes important for chromatin remodeling. Although not transcription factors themselves, Pontin and Reptin modulate the transcriptional activities of bona fide proto-oncogenes such as MYC and β-catenin. They associate with proteins involved in DNA damage repair such as PIKK complexes as well as with the core complex of Fanconi anemia pathway. They have also been shown to be important for cell cycle progression, being involved in assembly of telomerase, mitotic spindle, RNA polymerase II, and snoRNPs. When the two ATPases localize to the cytoplasm, they were reported to promote cancer cell invasion and metastasis. Due to their various roles in carcinogenesis, it is not surprising that Pontin and Reptin are proving to be important biomarkers for diagnosis and prognosis of various cancers. They are also current targets for the development of new therapeutic anticancer drugs.

  13. MRI Evaluation of Non-Necrotic T2-Hyperintense Foci in Pediatric Diffuse Intrinsic Pontine Glioma.

    Science.gov (United States)

    Clerk-Lamalice, O; Reddick, W E; Li, X; Li, Y; Edwards, A; Glass, J O; Patay, Z

    2016-05-19

    The conventional MR imaging appearance of diffuse intrinsic pontine glioma suggests intralesional histopathologic heterogeneity, and various distinct lesion components, including T2-hypointense foci, have been described. Here we report the prevalence, conventional MR imaging semiology, and advanced MR imaging features of non-necrotic T2-hyperintense foci in diffuse intrinsic pontine glioma. Twenty-five patients with diffuse intrinsic pontine gliomas were included in this study. MR imaging was performed at 3T by using conventional and advanced MR imaging sequences. Perfusion (CBV), vascular permeability (v e , K trans ), and diffusion (ADC) metrics were calculated and used to characterize non-necrotic T2-hyperintense foci in comparison with other lesion components, namely necrotic T2-hyperintense foci, T2-hypointense foci, peritumoral edema, and normal brain stem. Statistical analysis was performed by using Kruskal-Wallis and Wilcoxon rank sum tests. Sixteen non-necrotic T2-hyperintense foci were found in 12 tumors. In these foci, ADC values were significantly higher than those in either T2-hypointense foci (P = .002) or normal parenchyma (P = .0002), and relative CBV values were significantly lower than those in either T2-hypointense (P = .0002) or necrotic T2-hyperintense (P = .006) foci. Volume transfer coefficient values in T2-hyperintense foci were lower than those in T2-hypointense (P = .0005) or necrotic T2-hyperintense (P = .0348) foci. Non-necrotic T2-hyperintense foci are common, distinct lesion components within diffuse intrinsic pontine gliomas. Advanced MR imaging data suggest low cellularity and an early stage of angioneogenesis with leaky vessels resulting in expansion of the extracellular space. Because of the lack of biopsy validation, the underlying histoarchitectural and pathophysiologic changes remain unclear; therefore, these foci may correspond to a poorly understood biologic event in tumor evolution. © 2016 American Society of Neuroradiology.

  14. Gas-Filled Capillary Model

    International Nuclear Information System (INIS)

    Steinhauer, L. C.; Kimura, W. D.

    2006-01-01

    We have developed a 1-D, quasi-steady-state numerical model for a gas-filled capillary discharge that is designed to aid in selecting the optimum capillary radius in order to guide a laser beam with the required intensity through the capillary. The model also includes the option for an external solenoid B-field around the capillary, which increases the depth of the parabolic density channel in the capillary, thereby allowing for propagation of smaller laser beam waists. The model has been used to select the parameters for gas-filled capillaries to be utilized during the Staged Electron Laser Acceleration -- Laser Wakefield (STELLA-LW) experiment

  15. One-and-a-half syndrome in pontine infarcts: MRI correlates

    Energy Technology Data Exchange (ETDEWEB)

    Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D. [Department of Neurology, Stroke Unit, Hopital R. Salengro, CHRU de Lille (France); Leclerc, X.; Sahli, A. [Department of Neuroradiology, Lille University Hospital, Lille (France)

    1999-09-01

    The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits. (orig.)

  16. Evaluating the evidence surrounding pontine cholinergic involvement in REM sleep generation

    Directory of Open Access Journals (Sweden)

    Kevin P Grace

    2015-09-01

    Full Text Available Rapid eye movement (REM sleep - characterized by vivid dreaming, motor paralysis, and heightened neural activity - is one of the fundamental states of the mammalian central nervous system. Initial theories of rapid eye movement (REM sleep generation posited that induction of the state required activation of the ‘pontine REM sleep generator’ by cholinergic inputs. Here we review and evaluate the evidence surrounding cholinergic involvement in REM sleep generation. We submit that: (i the capacity of pontine cholinergic neurotransmission to generate REM sleep has been firmly established by gain-of-function experiments, (ii the function of endogenous cholinergic input to REM sleep generating sites cannot be determined by gain-of-function experiments; rather, loss-of-function studies are required, (iii loss-of-function studies show that endogenous cholinergic input to the PFT is not required for REM sleep generation, and (iv Cholinergic input to the pontine REM sleep generating sites serve an accessory role in REM sleep generation: reinforcing non-REM-to-REM sleep transitions making them quicker and less likely to fail.

  17. One-and-a-half syndrome in pontine infarcts: MRI correlates

    International Nuclear Information System (INIS)

    Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D.; Leclerc, X.; Sahli, A.

    1999-01-01

    The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits. (orig.)

  18. Biomimetic Unidirectional Capillary Action

    Science.gov (United States)

    Rupert, Eric; Moran, Patrick; Dahl, Jason

    2017-11-01

    In arid environments animals require specialized adaptations to collect adequate water. The Texas horned lizard (P. cornutum) has superhydrophylic skin which draws water out of moist soil or directly from water sources. The water then makes its way into the lizard's unidirectional capillary system, made of overlapping scales, which serves to channel water to its mouth. Testing different channel geometries, repeated ``D'' shaped chambers as in Commans et al. (2015) and truncated isosceles triangle chambers, as found in P. cornutum, we show the ability to have passive, unidirectional, fluid transport. Tests were carried out with the capillaries in a horizontal configuration. While both capillary geometries produced the desired traits, the triangular chambers showed superior unidirectionality, with no observed back flow, while ``D'' chambers showed back flow under testing conditions. The chambers provided similar flow rates. These types of channel systems will find use in microfluidics, notably in medical, printing, and lab-on-chip applications.

  19. Capillary condenser/evaporator

    Science.gov (United States)

    Valenzuela, Javier A. (Inventor)

    2010-01-01

    A heat transfer device is disclosed for transferring heat to or from a fluid that is undergoing a phase change. The heat transfer device includes a liquid-vapor manifold in fluid communication with a capillary structure thermally connected to a heat transfer interface, all of which are disposed in a housing to contain the vapor. The liquid-vapor manifold transports liquid in a first direction and conducts vapor in a second, opposite direction. The manifold provides a distributed supply of fluid (vapor or liquid) over the surface of the capillary structure. In one embodiment, the manifold has a fractal structure including one or more layers, each layer having one or more conduits for transporting liquid and one or more openings for conducting vapor. Adjacent layers have an increasing number of openings with decreasing area, and an increasing number of conduits with decreasing cross-sectional area, moving in a direction toward the capillary structure.

  20. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

    Directory of Open Access Journals (Sweden)

    Jamie eMcDonald

    2015-01-01

    Full Text Available Hereditary hemorrhagic telangiectasia (HHT is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in these genes have been reported to cause up to 85% of HHT. In our experience, approximately 96% of individuals with HHT have a mutation in these two genes, when published (Curaçao diagnostic criteria for HHT are strictly applied. More recently, two additional genes in the same pathway, SMAD4 and GDF2, have been identified in a much smaller number of patients with a similar or overlapping phenotype to HHT. Yet families still exist with compelling evidence of a hereditary telangiectasia disorder, but no identifiable mutation in a known gene. Recent availability of whole exome and genome testing has created new opportunities to facilitate gene discovery, identify genetic modifiers to explain clinical variability, and potentially define an increased spectrum of hereditary telangiectasia disorders. An expanded approach to molecular diagnostics for inherited telangiectasia disorders that incorporates a multi-gene next generation sequencing (NGS HHT panel is proposed.

  1. Treatment of Laryngeal Telangiectatic Lesions in a Patient Diagnosed with Hereditary Haemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, Anette Drøhse; Printz, Trine; Slot Mehlum, Camilla

    2015-01-01

    Abstract We here present a case concerning a 69 year old female patient with Hereditary Haemorrhagic Telangiectasia (HHT). She was suffering from hoarseness due to a telangiectatic lesion on the right vocal cord. The lesion was treated with laser and the voice improved markedly, which is document...

  2. Global Gene Expression Profiling of Telangiectasial Tissue from Patients with Hereditary Haemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Larsen, Martin Jakob; Kjeldsen, Anette D

    2015-01-01

    and arteriovenous malformations in visceral organs, primarily the lungs, brain and liver. The most common symptom in HHT is epistaxis originating from nasal telangiectasia, which can be difficult to prevent and can lead to severe anaemia. The clinical manifestations of HHT are extremely variable, even within family...

  3. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2008-09-15

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT.

  4. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    International Nuclear Information System (INIS)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin

    2008-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT

  5. Western Blotting using Capillary Electrophoresis

    OpenAIRE

    Anderson, Gwendolyn J.; Cipolla, Cynthia; Kennedy, Robert T.

    2011-01-01

    A microscale Western blotting system based on separating sodium-dodecyl sulfate protein complexes by capillary gel electrophoresis followed by deposition onto a blotting membrane for immunoassay is described. In the system, the separation capillary is grounded through a sheath capillary to a mobile X-Y translation stage which moves a blotting membrane past the capillary outlet for protein deposition. The blotting membrane is moistened with a methanol and buffer mixture to facilitate protein a...

  6. Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability

    OpenAIRE

    Fukawatase, Yoshihiro; Toyoda, Masashi; Okamura, Kohji; Nakamura, Ken-ichi; Nakabayashi, Kazuhiko; Takada, Shuji; Yamazaki-Inoue, Mayu; Masuda, Akira; Nasu, Michiyo; Hata, Kenichiro; Hanaoka, Kazunori; Higuchi, Akon; Takubo, Kaiyo; Umezawa, Akihiro

    2014-01-01

    Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal instability and hypersensitivity to ionizing radiation. iPS cells lacking ATM (AT-iPS cells) exhibited hypersensitivity to X-ray irradiation, one of the characteristics of the disease. While parental ataxia telangiectasia cells exhibited significant chromosomal abnormalities, AT-iPS cells did not show any chromosomal instability in vitro for at least 80 passages (560 days). Whole exome analysis also showed a compa...

  7. Practical capillary electrophoresis

    CERN Document Server

    Weinberger, Robert

    2000-01-01

    In the 1980s, capillary electrophoresis (CE) joined high-performance liquid chromatography (HPLC) as the most powerful separation technique available to analytical chemists and biochemists. Published research using CE grew from 48 papers in the year of commercial introduction (1988) to 1200 in 1997. While only a dozen major pharmaceutical and biotech companies have reduced CE to routine practice, the applications market is showing real or potential growth in key areas, particularly in the DNA marketplace for genomic mapping and forensic identification. For drug development involving small molecules (including chiral separations), one CE instrument can replace 10 liquid chromatographs in terms of speed of analysis. CE also uses aqueous rather than organic solvents and is thus environmentally friendlier than HPLC. The second edition of Practical Capillary Electrophoresis has been extensively reorganized and rewritten to reflect modern usage in the field, with an emphasis on commercially available apparatus and ...

  8. Bidirectional plasticity of pontine pneumotaxic postinspiratory drive: implication for a pontomedullary respiratory central pattern generator.

    Science.gov (United States)

    Poon, Chi-Sang; Song, Gang

    2014-01-01

    The "pneumotaxic center" in the rostral dorsolateral pons as delineated by Lumsden nine decades ago is known to play an important role in promoting the inspiratory off-switch (IOS) for inspiratory-expiratory phase transition as a fail-safe mechanism for preventing apneusis in the absence of vagal input. Traditionally, the pontine pneumotaxic mechanism has been thought to contribute a tonic descending input that lowers the IOS threshold in medullary respiratory central pattern generator (rCPG) circuits, but otherwise does not constitute part of the rCPG. Recent evidence indicates that descending input from the Kölliker-Fuse nucleus (KFN) within the pneumotaxic center is essential for gating the postinspiratory phase of the three-phase respiratory rhythm to control the IOS in vagotomized animals. A critical question arising is whether such a descending pneumotaxic input from KFN that drives postinspiratory activity is tonic (null hypothesis) or rhythmic with postinspiratory phase modulation (alternative hypothesis). Here, we show that multifarious evidence reported in the literature collectively indicates that the descending pneumotaxic input may exhibit NMDA receptor-dependent short-term plasticity in the form of a biphasic neural differentiator that bidirectionally and phase-selectively modulates postinspiratory phase duration in response to vagal and peripheral chemoreceptor inputs independent of the responses in inspiratory and late-expiratory activities. The phase-selectivity property of the descending pneumotaxic input implicates a population of pontine early-expiratory (postinspiratory/expiratory-decrementing) neurons as the most likely neural correlate of the pneumotaxic mechanism that drives post-I activity, suggesting that the pontine pneumotaxic mechanism may be an integral part of a pontomedullary rCPG that underlies the three-phase respiratory rhythm. © 2014 Elsevier B.V. All rights reserved.

  9. Macular telangiectasia type 2 (MacTel) in a 34-year-old patient.

    Science.gov (United States)

    Nicolai, Heleen; Wirix, Mieke; Spielberg, Leigh; Leys, Anita

    2014-09-23

    We report macular telangiectasia type 2 (MacTel) in a 34-year-old man, the youngest patient so far published with MacTel type 2. The patient presented with metamorphopsia and impaired reading ability. Diagnosis was based on bilateral abnormal macular autofluorescence, perifoveal telangiectasia with fluorescein angiographic hyperfluorescence without cystoid oedema, a small foveal avascular zone, asymmetric configuration of the foveal pit, disruptions in the inner segment/outer segment layer and hyper-reflective haze and spots in the outer nuclear layer. Although MacTel usually manifests with a slowly progressive decrease in visual acuity in the fifth to seventh decades of life, younger patients may occasionally be diagnosed with the disease. Awareness of subtle signs of the condition is essential for early diagnosis. 2014 BMJ Publishing Group Ltd.

  10. Automated Parallel Capillary Electrophoretic System

    Science.gov (United States)

    Li, Qingbo; Kane, Thomas E.; Liu, Changsheng; Sonnenschein, Bernard; Sharer, Michael V.; Kernan, John R.

    2000-02-22

    An automated electrophoretic system is disclosed. The system employs a capillary cartridge having a plurality of capillary tubes. The cartridge has a first array of capillary ends projecting from one side of a plate. The first array of capillary ends are spaced apart in substantially the same manner as the wells of a microtitre tray of standard size. This allows one to simultaneously perform capillary electrophoresis on samples present in each of the wells of the tray. The system includes a stacked, dual carousel arrangement to eliminate cross-contamination resulting from reuse of the same buffer tray on consecutive executions from electrophoresis. The system also has a gel delivery module containing a gel syringe/a stepper motor or a high pressure chamber with a pump to quickly and uniformly deliver gel through the capillary tubes. The system further includes a multi-wavelength beam generator to generate a laser beam which produces a beam with a wide range of wavelengths. An off-line capillary reconditioner thoroughly cleans a capillary cartridge to enable simultaneous execution of electrophoresis with another capillary cartridge. The streamlined nature of the off-line capillary reconditioner offers the advantage of increased system throughput with a minimal increase in system cost.

  11. Primary pontine gliobastoma multiforme: A case report and review of the literature

    International Nuclear Information System (INIS)

    Baik, Ji Yeon; Baek, Hye Jin; Moon, Jin Il; Cho, Soo Buem; Choi, Bo Hwa; Bae, Kyung Soo; Jeon, Kyung Nyeo; Choi, Dae Seob; Shin, Hwa Seon

    2016-01-01

    Glioblastoma multiforme (GBM) most commonly occurs in the pons while it is rare in the brainstem. However, diagnosis of brainstem GBM can be difficult due to its rarity and nonspecific clinical manifestations. Herein, we presented a case of a 47-year-old female patient confirmed as primary pontine GBM by histopathological examination. This case highlights that GBM should be considered in the differential diagnosis of patients with a space-occupying lesion in the brainstem as well as the importance of a meticulous radiological review with clinical suspicion

  12. Primary pontine gliobastoma multiforme: A case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Baik, Ji Yeon; Baek, Hye Jin [Dept. of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan (Korea, Republic of); Moon, Jin Il; Cho, Soo Buem; Choi, Bo Hwa; Bae, Kyung Soo; Jeon, Kyung Nyeo [Dept. of Radiology, Gyeongsang National University School of Medicine, Gyeongsang National University Changwon Hospital, Changwon (Korea, Republic of); Choi, Dae Seob; Shin, Hwa Seon [Dept. of Radiology, Gyeongsang National University School of Medicine, Gyeongsang National University Hospital, Jinju (Korea, Republic of)

    2016-08-15

    Glioblastoma multiforme (GBM) most commonly occurs in the pons while it is rare in the brainstem. However, diagnosis of brainstem GBM can be difficult due to its rarity and nonspecific clinical manifestations. Herein, we presented a case of a 47-year-old female patient confirmed as primary pontine GBM by histopathological examination. This case highlights that GBM should be considered in the differential diagnosis of patients with a space-occupying lesion in the brainstem as well as the importance of a meticulous radiological review with clinical suspicion.

  13. Genetically Engineered Mouse Model of Diffuse Intrinsic Pontine Glioma as a Preclinical Tool

    Science.gov (United States)

    2014-11-01

    www.actaneurocomms.org/content/2/1/134N-Myc and Hedgehog [17], MYCN, silent, and H3-K27M [10] or H3-K27M and wildtype [6]. Together, these classi...pons, and as there are significant differences between mouse and human brainstem anatomy , we can- not be certain that the dorsal Nestin+/Pax3...Fisher PG, Weissman IL, Rowitch DH, Vogel H, Wong AJ, Beachy PA (2011) Hedgehog -responsive candidate cell of origin for diffuse intrinsic pontine glioma

  14. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Møller, T R; Brusgaard, K

    2005-01-01

    BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease, characterized by a wide variety of clinical manifestations, including epistaxis, gastrointestinal (GI) bleeding, pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. HHT is a genetically...... patients had experienced more severe GI bleeding than HHT2 patients. There was no significant difference in severity of epistaxis or age at debut. Finally the mortality over a 90-month observation period was not significantly increased....

  15. Establishment of cell lines derived from ataxia telangiectasia and xeroderma pigmentosum patients with high radiation sensitivity

    International Nuclear Information System (INIS)

    Hashimoto, Tomoko; Furuyama, Jun-ichi; Nakano, Yoshiro; Owada, M. Koji; Kakunaga, Takeo

    1986-01-01

    Four human fibroblast cell lines, three of which were derived from a patient with ataxia telangiectasia and the other from a patient with xeroderma pigmentosum, were established after transfection with cloned SV40 DNA. These 4 cell lines showed some phenotypes characteristic of neoplastically transformed cells, and had a human karyotype with heteromorphisms identical to those of the parental fibroblasts. Their sensitivity to the cytotoxic effects of γ-rays or ultraviolet irradiation was as high as those of their parental fibroblasts. (Auth.)

  16. Neurologic Manifestation as Initial Presentation in a Case of Hereditary Haemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Yeow Kwan Teo

    2010-01-01

    Full Text Available Hereditary Haemorrhagic Telangiectasia (HHT, or Osler-Weber-Rendu syndrome is an uncommon autosomal dominant multi-organ condition of vascular dysplasias. We describe a 19 year old Indian female who presented with cerebral abscess secondary to paradoxical emboli from pulmonary arteriovenous malformations (PAVMs associated with HHT. Cerebral, pulmonary, hepatic and gastrointestinal involvement can be life-threatening and it is important to have lifelong follow-ups on these patients.

  17. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Hammond Sue

    2009-03-01

    Full Text Available Abstract Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. Case presentation We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Conclusion A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

  18. Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young June; Ahn, Kwang Sung; Kim, Minjeong; Kim, Min Ju; Park, Sang-Min; Ryu, Junghyun; Ahn, Jin Seop; Heo, Soon Young; Kang, Jee Hyun; Choi, You Jung [Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan (Korea, Republic of); Choi, Seong-Jun [Institute of Tissue Regeneration Engineering, Dankook University, Cheonan (Korea, Republic of); Shim, Hosup, E-mail: shim@dku.edu [Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan (Korea, Republic of); Institute of Tissue Regeneration Engineering, Dankook University, Cheonan (Korea, Republic of); Department of Physiology, Dankook University School of Medicine, Cheonan (Korea, Republic of)

    2014-10-03

    Highlights: • ATM gene-targeted pigs were produced by somatic cell nuclear transfer. • A novel large animal model for ataxia telangiectasia was developed. • The new model may provide an alternative to the mouse model. - Abstract: Ataxia telangiectasia (A-T) is a recessive autosomal disorder associated with pleiotropic phenotypes, including progressive cerebellar degeneration, gonad atrophy, and growth retardation. Even though A-T is known to be caused by the mutations in the Ataxia telangiectasia mutated (ATM) gene, the correlation between abnormal cellular physiology caused by ATM mutations and the multiple symptoms of A-T disease has not been clearly determined. None of the existing ATM mouse models properly reflects the extent to which neurological degeneration occurs in human. In an attempt to provide a large animal model for A-T, we produced gene-targeted pigs with mutations in the ATM gene by somatic cell nuclear transfer. The disrupted allele in the ATM gene of cloned piglets was confirmed via PCR and Southern blot analysis. The ATM gene-targeted pigs generated in the present study may provide an alternative to the current mouse model for the study of mechanisms underlying A-T disorder and for the development of new therapies.

  19. Imaging study of lymphoreticular tumor development in ataxia-telangiectasia and Nijmegen breakage syndrome

    International Nuclear Information System (INIS)

    Martinez-Leon, M. I.; Ceres-Ruiz, L.; Cuesta, M. A.; Garcia-Martin, F. J.

    2003-01-01

    Ataxia-telangiectasia (AT), or Louis-Bar syndrome, is an autosomal recessive illness characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, immunodeficiency combined with susceptibility to sinopulmonary infections and high incidence of neoplastic development. Nijmegen breakage syndrome (NBS) is a variant of AT, is also an autosomal recessive illness that presents cerebellar ataxia, as well as combined immunodeficiency and a tendency toward tumor development. Contrary to Louis-Bar syndrome, it doesn't present telangiectasia and exhibits a characteristics phenotype (short stature, bird-like face and microcephaly). Both entities are classified as syndrome of chromosomal instability or chromosomal fragility, a group which also includes Bloom syndrome and Fanconi anemia. All of these show an increase in the frequency of neoplastic pathologies, mainly lymphoid tumors. We present three patients,two with AT and one with NBS, who developed different lymphoma types in the course of the illness. We highlight the most outstanding aspects from a clinical-radiological point of view. (Author) 17 refs

  20. Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer

    International Nuclear Information System (INIS)

    Kim, Young June; Ahn, Kwang Sung; Kim, Minjeong; Kim, Min Ju; Park, Sang-Min; Ryu, Junghyun; Ahn, Jin Seop; Heo, Soon Young; Kang, Jee Hyun; Choi, You Jung; Choi, Seong-Jun; Shim, Hosup

    2014-01-01

    Highlights: • ATM gene-targeted pigs were produced by somatic cell nuclear transfer. • A novel large animal model for ataxia telangiectasia was developed. • The new model may provide an alternative to the mouse model. - Abstract: Ataxia telangiectasia (A-T) is a recessive autosomal disorder associated with pleiotropic phenotypes, including progressive cerebellar degeneration, gonad atrophy, and growth retardation. Even though A-T is known to be caused by the mutations in the Ataxia telangiectasia mutated (ATM) gene, the correlation between abnormal cellular physiology caused by ATM mutations and the multiple symptoms of A-T disease has not been clearly determined. None of the existing ATM mouse models properly reflects the extent to which neurological degeneration occurs in human. In an attempt to provide a large animal model for A-T, we produced gene-targeted pigs with mutations in the ATM gene by somatic cell nuclear transfer. The disrupted allele in the ATM gene of cloned piglets was confirmed via PCR and Southern blot analysis. The ATM gene-targeted pigs generated in the present study may provide an alternative to the current mouse model for the study of mechanisms underlying A-T disorder and for the development of new therapies

  1. Capillary Condensation in Confined Media

    OpenAIRE

    Charlaix, Elisabeth; Ciccotti, Matteo

    2009-01-01

    28 pages - To appear in 2010 in the Handbook of Nanophysics - Vol 1 - Edited by Klaus Sattler - CRC Press; We review here the physics of capillary condensation of liquids in confined media, with a special regard to the application in nanotechnologies. The thermodynamics of capillary condensation and thin film adsorption are first exposed along with all the relevant notions. The focus is then shifted to the modelling of capillary forces, to their measurements techniques (including SFA, AFM and...

  2. Capillary waves in slow motion

    International Nuclear Information System (INIS)

    Seydel, Tilo; Tolan, Metin; Press, Werner; Madsen, Anders; Gruebel, Gerhard

    2001-01-01

    Capillary wave dynamics on glycerol surfaces has been investigated by means of x-ray photon correlation spectroscopy performed at grazing angles. The measurements show that thermally activated capillary wave motion is slowed down exponentially when the sample is cooled below 273 K. This finding directly reflects the freezing of the surface waves. The wave-number dependence of the measured time constants is in quantitative agreement with theoretical predictions for overdamped capillary waves

  3. Capillary waves of compressible fluids

    International Nuclear Information System (INIS)

    Falk, Kerstin; Mecke, Klaus

    2011-01-01

    The interplay of thermal noise and molecular forces is responsible for surprising features of liquids on sub-micrometer lengths-in particular at interfaces. Not only does the surface tension depend on the size of an applied distortion and nanoscopic thin liquid films dewet faster than would be expected from hydrodynamics, but also the dispersion relation of capillary waves differ at the nanoscale from the familiar macroscopic behavior. Starting with the stochastic Navier-Stokes equation we study the coupling of capillary waves to acoustic surface waves which is possible in compressible fluids. We find propagating 'acoustic-capillary waves' at nanometer wavelengths where in incompressible fluids capillary waves are overdamped.

  4. Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke.

    Science.gov (United States)

    Giannantoni, Nadia Mariagrazia; Broccolini, Aldobrando; Frisullo, Giovanni; Pilato, Fabio; Profice, Paolo; Morosetti, Roberta; Di Lella, Giuseppe; Zampino, Giuseppe; Della Marca, Giacomo

    2015-01-01

    Neurofibromatosis type 1 (NF1) is a heterogeneous, common, neurocutaneous disorder presenting different complications during a life span, including cerebrovascular dysplasia. To our knowledge this is the first reported case of NF1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. We describe a 57-year-old man with NF1 who presented an acute onset right-sided facial palsy and hemiplegia, dysarthria, and gait imbalance. Magnetic resonance imaging showed an acute left paramedian pontine infarct and a hypoplastic right vertebral artery. Brain Computed Tomography Angiography revealed the occurrence of vertebrobasilar dolichoectasia. Co-occurrence of VBD and NF1 might not be merely casual and it may significantly heighten the mortality rate in this multisystem disorder. We suggest a possible role of VBD in the genesis of our patient's clinical-radiological features and prompt the early detection of asymptomatic arteriopathy in individuals with NF1 in order to ameliorate patients' quality of life and life expectancy. Copyright © 2014 by the American Society of Neuroimaging.

  5. A Rare Pontine Neuro-ophthalmic Syndrome: Eight-and-a-Half Syndrome

    Directory of Open Access Journals (Sweden)

    Esra Eruyar

    2017-06-01

    Full Text Available One-and-a half syndrome is seen in paramedian pontine lesions, and may also co-exist with cranial nerve paralysis. This clinical situation is called eight-and-a-half syndrome when facial nerve paralysis also accompanies this manifestation. A man aged 38 years was admitted with symptoms of sudden-onset binocular diplopia and dizziness. The patient had no known co-morbidities. Cranial magnetic resonance imaging showed a small-sized infarct in the left paramedian pontine tegmentum posterior area. In his neuro-ophthalmologic examination, total paresis of left eye horizontal movements, mild lateral deviation, and monocular nystagmus during abduction of the right eye were observed. The patient also had peripheral facial paralysis on the left side; therefore, no signs of motor deficit of his extremities were examined. Eight-and-a-half syndrome is a rare disorder that is seen in localized-small pons lesions, mostly accompanied by infarcts. This clinical manifestation is called eight-and-a-half syndrome and arises within lesions in both the parapontine reticular formation and the medial longitudinal fasciculus in the inferior pons tegmentum where horizontal eye movements are controlled, and facial axons adjacent to the nucleus of the sixth nerve. We wanted to present this case to emphasize this rare situation

  6. AAA+ ATPases Reptin and Pontin as potential diagnostic and prognostic biomarkers in salivary gland cancer - a short report.

    Science.gov (United States)

    Mikesch, Jan-Henrik; Hartmann, Wolfgang; Angenendt, Linus; Huber, Otmar; Schliemann, Christoph; Arteaga, Maria Francisca; Wardelmann, Eva; Rudack, Claudia; Berdel, Wolfgang E; Stenner, Markus; Grünewald, Inga

    2018-06-05

    Salivary gland cancer (SGC) is a rare and heterogeneous disease with significant differences in recurrence and metastasis characteristics. As yet, little is known about the mechanisms underlying the initiation and/or progression of these diverse tumors. In recent years, the AAA+ ATPase family members Pontin (RuvBL1, Tip49a) and Reptin (RuvBL2, Tip49b) have been implicated in various processes, including transcription regulation, chromatin remodeling and DNA damage repair, that are frequently deregulated in cancer. The aim of this study was to assess the clinical and functional significance of Reptin and Pontin expression in SGC. Immunohistochemical staining of Pontin, Reptin, β-catenin, Cyclin D1, TP53 and MIB-1 was performed on a collection of 94 SGC tumor samples comprising 13 different histological subtypes using tissue microarrays. We found that Reptin and Pontin were expressed in the majority of SGC samples across all histological subtypes. Patients with a high Reptin expression showed a significantly inferior 5-year overall survival rate compared to patients with a low Reptin expression (47.7% versus 78.3%; p = 0.033), whereas no such difference was observed for Pontin. A high Reptin expression strongly correlated with a high expression of the proliferation marker MIB-1 (p = 0.003), the cell cycle regulator Cyclin D1 (p = 0.006), accumulation of TP53 as a surrogate p53 mutation marker (p = 0.042) and cytoplasmic β-catenin expression (p = 0.002). Increased Pontin expression was found to significantly correlate with both cytoplasmic and nuclear β-catenin expression (p = 0.037 and p = 0.018, respectively), which is indicative for its oncogenic function. Our results suggest a role of Reptin and Pontin in SGC tumor progression and/or patient survival. Therefore, SGC patients exhibiting a high Reptin expression may benefit from more aggressive therapeutic regimens. Future studies should clarify whether such patients may be considered

  7. On Capillary Rise and Nucleation

    Science.gov (United States)

    Prasad, R.

    2008-01-01

    A comparison of capillary rise and nucleation is presented. It is shown that both phenomena result from a balance between two competing energy factors: a volume energy and a surface energy. Such a comparison may help to introduce nucleation with a topic familiar to the students, capillary rise. (Contains 1 table and 3 figures.)

  8. Capillary optics for radiation focusing

    International Nuclear Information System (INIS)

    Peurrung, A.J.; Reeder, P.L.; Bliss, M.; Craig, R.A.; Lepel, E.A.; Stromswold, D.C.; Stoffels, J.; Sunberg, D.S.; Tenny, H.

    1996-11-01

    Capillary lens technology may ultimately bring benefits to neutron and x-ray-based science like conventional lenses with visible light. Although the technology is not yet 10 years old, these lenses have already had a significant impact in engineering, science, and medicine. Capillary lenses are advantageous when it is desirable to increase the radiation flux at a location without regard to its angular divergence. PNNL has worked to improve the technology in several ways. A single, optimally tapered capillary was manufactured, which allows intensity gains of a factor of 270 for an initially parallel, incident x-ray beam. Feasibility of constructing neutron lenses using 58 Ni (particularly effective at reflecting neutrons) has been explored. Three applications for capillary optics have been identified and studied: neutron telescope, Gandolphi x-ray diffractometry, and neutron radiotherapy. A brief guide is given for determining which potential applications are likely to be helped by capillary optics

  9. On hydraulics of capillary tubes

    Directory of Open Access Journals (Sweden)

    N.G. Aloyan

    2016-03-01

    Full Text Available The article considers the laws of motion of water in the capillary tubes, taken as a model for flowing well, on the analogical net count device. For capillary tube the lower limit value of flow rate is empirically determined above which the total hydraulic resistance of the capillary is practically constant. The specificity of the phenomenon is that the regime of motion, by a Reynolds number, for a given flow rate still remains laminar. This circumstance can perplex the specialists, so the author invites them to the scientific debate on the subject of study. Obviously, to identify the resulting puzzle it is necessary to conduct a series of experiments using capillaries of different lengths and diameters and with different values of overpressure. The article states that in tubes with very small diameter the preliminary magnitude of capillary rise of water in the presence of flow plays no role and can be neglected.

  10. Biomedical applications of capillary electrophoresis

    International Nuclear Information System (INIS)

    Kartsova, L A; Bessonova, E A

    2015-01-01

    The review deals with modern analytical approaches used in capillary electrophoresis for solving medical and biological problems: search for biomarkers of various diseases and rapid diagnosis based on characteristic profiles of biologically active compounds by capillary electrophoresis with mass spectrometric detection; monitoring of the residual drugs in biological fluids for evaluating the efficiency of drug therapy; testing of the enantiomeric purity of pharmaceutical products; the use of novel materials as components of stationary and pseudo-stationary phases in capillary electrophoresis and capillary electrochromatography to increase the selectivity of separation of components of complex matrices; and identification of various on-line preconcentration techniques to reduce the detection limits of biologically active analytes. A topical trend in capillary electrophoresis required in clinical practice, viz., the design of microfluidic systems, is discussed. The bibliography includes 173 references

  11. Physiological factors influencing capillary growth.

    Science.gov (United States)

    Egginton, S

    2011-07-01

    (1) Angiogenesis (growth of new capillaries from an existing capillary bed) may result from a mismatch in microvascular supply and metabolic demand (metabolic error signal). Krogh examined the distribution and number of capillaries to explore the correlation between O(2) delivery and O(2) consumption. Subsequently, the heterogeneity in angiogenic response within a muscle has been shown to reflect either differences in fibre type composition or mechanical load. However, local control leads to targetted angiogenesis in the vicinity of glycolytic fibre types following muscle stimulation, or oxidative fibres following endurance training, while heterogeneity of capillary spacing is maintained during ontogenetic growth. (2) Despite limited microscopy resolution and lack of specific markers, Krogh's interest in the structure of the capillary wall paved the way for understanding the mechanisms of capillary growth. Angiogenesis may be influenced by the response of perivascular or stromal cells (fibroblasts, macrophages and pericytes) to altered activity, likely acting as a source for chemical signals modulating capillary growth such as vascular endothelial growth factor. In addition, haemodynamic factors such as shear stress and muscle stretch play a significant role in adaptive remodelling of the microcirculation. (3) Most indices of capillarity are highly dependent on fibre size, resulting in possible bias because of scaling. To examine the consequences of capillary distribution, it is therefore helpful to quantify the area of tissue supplied by individual capillaries. This allows the spatial limitations inherent in most models of tissue oxygenation to be overcome generating an alternative approach to Krogh's tissue cylinder, the capillary domain, to improve descriptions of intracellular oxygen diffusion. © 2010 The Author. Acta Physiologica © 2010 Scandinavian Physiological Society.

  12. Capillaries for use in a multiplexed capillary electrophoresis system

    Science.gov (United States)

    Yeung, E.S.; Chang, H.T.; Fung, E.N.

    1997-12-09

    The invention provides a side-entry optical excitation geometry for use in a multiplexed capillary electrophoresis system. A charge-injection device is optically coupled to capillaries in the array such that the interior of a capillary is imaged onto only one pixel. In Sanger-type 4-label DNA sequencing reactions, nucleotide identification (``base calling``) is improved by using two long-pass filters to split fluorescence emission into two emission channels. A binary poly(ethyleneoxide) matrix is used in the electrophoretic separations. 19 figs.

  13. A clinico-radiological study on 254 cases of pontine high signals on magnetic resonance imaging in relation to brain stem semiology

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, Masaki; Takahashi, Akira (Nagoya Univ. (Japan). Faculty of Medicine); Arahata, Yutaka; Motegi, Yoshimasa; Furuse, Masahiro

    1993-11-01

    A total of 254 patients who were proved to have pontine high intensity areas on T[sub 2]-weighted magnetic resonance imaging (MRI) were analyzed in relation to brain stem semiology. A comparative study on MRI and MR angiography was made between 254 patients with pontine high signals and 276 control cases showing no abnormality either on T[sub 1] or T[sub 2]-weighted images. Of the 254 patients, 62 had transient subjective complaints such as vertigo-dizziness. Supratentorial high signals, basilar artery tortuousness and vertebral artery asymmetry on MR angiography were seen more frequently in patients with pontine high signals than in the controls. In conclusion, pontine high signals may result from diffuse arteriosclerosis and MR angiography is considered to be a useful screening method. (author).

  14. Excision of gamma-ray induced thymine lesions by preparations from ataxia telangiectasia fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Remsen, J F; Cerutti, P A [Florida Univ., Gainesville (USA). Inst. of Food and Agricultural Sciences; Florida Univ., Gainesville (USA). Dept. of Biochemistry)

    1977-04-01

    The capacity of whole cell sonicates of skin fibroblasts of normal individuals and patients with the autosomal recessive disease Ataxia telangiectasia (AT) to remove aerobic gamma-ray products of the 5,6-dihydroxydihydrothymine type (tsub(O/sub 2/)sup(..gamma..)) from exogenous DNA substrates was investigated. All four AT strains (AT CRL 1312, AT CRL 1343, AT GM 367, AT 4BI) possessed normal capabilities to excise tsub(O/sub 2/)sup(..gamma..) from irradiated bacteriophage DNA and irradiated chromatin isolated from normal and AT-skin fibroblasts.

  15. Hereditary Hemorrhagic Telangiectasia Presenting as High Output Cardiac Failure during Pregnancy

    Directory of Open Access Journals (Sweden)

    Tareq Goussous

    2009-01-01

    Full Text Available High-output cardiac failure secondary to hepatic involvement is a rare complication of hereditary hemorrhagic telangiectasia (HHT. Here we report a 43-year-old woman who presented at 29 weeks gestation of her second pregnancy with complications of right-sided heart failure and preterm labor. After delivery via cesarean section, the patient was found to have intrahepatic arteriovenous malformations through non-invasive imaging. Subsequently, a family history of vascular malformations and epistaxis was elucidated and a diagnosis of HHT was made. This case is presented, along with a review of the literature and discussion of hepatic involvement in HHT with particular focus on the pregnant patient.

  16. Hereditary hemorrhagic telangiectasia: progress of diagnostic imaging and vascular therapeutic embolization

    International Nuclear Information System (INIS)

    Lu Chuan; Liu Zuoqin

    2008-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a genetic autosomal-dominant disorder characterized by the presence of epistaxis, vascular telangiectasis in mucosal and cutaneous tissues, with visceral lesions and family history. However, many specialists or radiologists are still in lack of appreciation concerning the full range of consequences in diagnosis and their family relationship resulting the poor recognition of the disease. Understanding the diagnostic imaging and therapeutic measure for HHT will be critical, because of the continuous growth and risk existance of these arteriovenous malformations arousing early diagnosis, proper treatment, adequate follow-up and screening of the family. (authors)

  17. Palliative Care Options for a Young Adult Patient with a Diffuse Intrinsic Pontine Glioma.

    Science.gov (United States)

    Sison, Julian; Tran, Hung; Margol, Ashley; Tiwari, Nishant; Garcia, Karla M; Cotter, Jennifer; Kiehna, Erin; Olch, Arthur J; Wong, Kenneth

    2017-08-18

    Diffuse intrinsic pontine gliomas (DIPGs) are rare but devastating brain tumors that occur primarily in children. These gliomas have poor prognoses and present options focus on palliation of symptoms and prolongation of life. Here, we present a case of a 16-year-old female diagnosed with a DIPG whose age group has been mostly left out of discussions regarding psychosocial support options. This report is meant to start a conversation about the different support options available at our institution that have shown promising results in the literature for palliative care applications. These options can include camps for patients with brain tumors, psychological counseling, the Ronald McDonald House, and other psychosocial programs. Many of these programs can be tailored to meet the specific needs of adolescent and young adult (AYA) patients and will hopefully be integrated into a comprehensive palliative care regimen in future studies.

  18. A Case of Central Pontine Myelinolysis Caused by Hypophosphatemia Secondary to Refeeding Syndrome

    Directory of Open Access Journals (Sweden)

    Chikara Yamashita

    2015-10-01

    Full Text Available Central pontine myelinolysis (CPM, which was originally considered to be the result of rapid correction of chronic hyponatremia, is not necessarily accompanied by hyponatremia or drastic changes in serum sodium level. Here, we report a case of an anorexic 55-year-old male with a history of pharyngo-laryngo-esophagogastrectomy, initially hospitalized with status epilepticus. Although his consciousness gradually recovered as we were controlling his convulsion, it deteriorated again with new onset of anisocoria, and magnetic resonance imaging (MRI at this point revealed CPM. Rapid change of serum sodium or osmolarity, which is often associated with CPM, had not been apparent throughout his hospitalization. Instead, a review of the serum biochemistry test results showed that serum phosphate had drastically declined the day before the MRI first detected CPM. In this case, we suspect that hypophosphatemia induced by refeeding syndrome greatly contributed to the occurrence of CPM.

  19. A Case of Central Pontine Myelinolysis Caused by Hypophosphatemia Secondary to Refeeding Syndrome.

    Science.gov (United States)

    Yamashita, Chikara; Shigeto, Hiroshi; Maeda, Norihisa; Torii, Takako; Ohyagi, Yasumasa; Kira, Jun-Ichi

    2015-01-01

    Central pontine myelinolysis (CPM), which was originally considered to be the result of rapid correction of chronic hyponatremia, is not necessarily accompanied by hyponatremia or drastic changes in serum sodium level. Here, we report a case of an anorexic 55-year-old male with a history of pharyngo-laryngo-esophagogastrectomy, initially hospitalized with status epilepticus. Although his consciousness gradually recovered as we were controlling his convulsion, it deteriorated again with new onset of anisocoria, and magnetic resonance imaging (MRI) at this point revealed CPM. Rapid change of serum sodium or osmolarity, which is often associated with CPM, had not been apparent throughout his hospitalization. Instead, a review of the serum biochemistry test results showed that serum phosphate had drastically declined the day before the MRI first detected CPM. In this case, we suspect that hypophosphatemia induced by refeeding syndrome greatly contributed to the occurrence of CPM.

  20. Urinary incontinence a first presentation of central pontine myelinolysis: a case report.

    Science.gov (United States)

    Syed, Asmah Hassan; Shak, Joanna; Alsawaf, Ali

    2015-09-01

    An 84-year-old lady was treated for hyperosmolar hyperglycaemia with IV insulin, fluids and catheterisation for fluid balance monitoring. Trial without catheter failed as the patient complained of new-onset urinary incontinence and lack of awareness of bladder filling. In light of her breast cancer history, we excluded cauda equina. Ultrasound KUB showed an enlarged bladder. Whole-body MRI revealed a lesion in the pons which was highly suggestive of central pontine myelinolysis (CPM). Her electrolytes were normal throughout her admission; thus, the rapid fluctuation in osmolality, secondary to her hyperglycaemic state, was the likely cause of CPM. CPM has been reported secondary to hyperglycaemia; however, this is the first reported case of CPM presenting as urinary incontinence and loss of bladder sensation. © The Author 2015. Published by Oxford University Press on behalf of the British Geriatrics Society. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Central pontine myelinolysis presenting as isolated sixth nerve palsy in third trimester of pregnancy

    Directory of Open Access Journals (Sweden)

    Tushar Divakar Gosavi

    2015-01-01

    Full Text Available A 30-year-old primigravida presented with isolated left sixth nerve palsy at 38 weeks gestation. Her MRI showed a lesion consistent with central pontine myelinolysis (CPM. Extensive investigations did not reveal any secondary cause for the CPM. She recovered spontaneously in 2 weeks with complete resolution of her MRI changes. To our knowledge, this is the first report of CPM occurring in third trimester in the absence of identifiable secondary causes and of CPM presenting as an isolated sixth nerve palsy. We discuss the reported causes of CPM in pregnancy, possible pathophysiologic mechanisms involved and the anatomic basis of the unique clinical presentation of sixth nerve palsy in our case.

  2. Central Pontine Myelinolysis and Localized Fluorodeoxyglucose Uptake Seen on 18F-FDG PET/CT

    DEFF Research Database (Denmark)

    Rønne, Frederik; Tfelt-Hansen, Peer Carsten; Rørdam, Lene

    2017-01-01

    Case report describing the finding of central pontine myelinolysis (CPM) using combined fluorine-18 ( 18F)-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT). The patient was a known alcoholic who, during admission was under treatment for hyponatremia, showed...... a significant decline in both motor and cognitive function. Combined 18F-FDG PET/CT showed localized FDG uptake in the pons, consistent with the finding of CPM observed on magnetic resonance imaging (MRI). CPM is a demyelinating lesion of the pons, resulting in several neurological symptoms. The exact cause...... of CPM is not clear, but a strong relations between loss of myelin and osmotic stress exists, especially during rapid correction of hyponatremia. The osmotic stress is thought to induce disruption of the blood-brain barrier, allowing access for inflammatory mediators in extravascular brain tissue, which...

  3. Clinical Evolution of Central Pontine Myelinolysis in a Patient with Alcohol Withdrawal: A Blurred Clinical Horizon

    Directory of Open Access Journals (Sweden)

    Abdul S. Mohammed

    2016-01-01

    Full Text Available Central pontine myelinolysis (CPM, a potentially fatal and debilitating neurological condition, was first described in 1959 in a study on alcoholic and malnourished patients. It is a condition most frequently related to rapid correction of hyponatremia. Chronic alcoholism associated CPM tends to be benign with a favorable prognosis compared to CPM secondary to rapid correction of hyponatremia. We describe a normonatremic, alcoholic patient who presented with CPM after a rapid rise in his sodium levels. Our case illustrates the fact that CPM can manifest even in patients who are normonatremic at baseline. Rapid rises in sodium levels should be promptly reversed before clinical symptoms manifest in patient with risk factors for CPM irrespective of their baseline sodium levels. Furthermore, clinical evolution of CPM can be difficult to discern from the natural course of alcohol withdrawal delirium, requiring astuteness and maintenance of a high degree of clinical suspicion on the part of the physician.

  4. New insights on the petrology of submarine volcanics from the Western Pontine Archipelago (Tyrrhenian Sea, Italy)

    Science.gov (United States)

    Conte, A. M.; Perinelli, C.; Bianchini, G.; Natali, C.; Martorelli, E.; Chiocci, F. L.

    2016-11-01

    The Pontine Islands form a volcanic archipelago in the Tyrrhenian Sea. It consists of two edifices, the islands of Ponza, Palmarola and Zannone and the islands of Ventotene and Santo Stefano, respectively. The Archipelago developed during two main volcanic cycles in the Plio-Pleistocene: 1) the Pliocene episode erupted subalkaline, silica-rich volcanic units, which constitute the dominant products in the western edifice (Ponza and Zannone Islands); 2) the Pleistocene episode erupted more alkaline products, represented by evolved rocks (trachytes to peralkaline rhyolites) in the islands of Ponza and Palmarola and by basic to intermediate rocks in the eastern edifice (Ventotene and Santo Stefano Islands). In this paper we present new geochemical and petrological data from submarine rock samples collected in two oceanographic cruises and a scuba diving survey. The main result is the recovery of relatively undifferentiated lithotypes that provide further insights on the magmatic spectrum existing in the Pontine Archipelago, allowing modelling of the whole suite of rocks by fractional crystallization processes. New major and trace element data and thermodynamic constrains (by the software PELE) indicate the existence of three distinct evolutionary trends corresponding to a HK calcalkaline series in the Pliocene, followed by a transitional and then by a shoshonite series in the Pleistocene. In particular, the transitional series, so far overlooked in the literature, is required in order to explain the genesis of several peralkaline felsic rocks recognized in the Archipelago. On the whole, the new geochemical data i) confirm the orogenic signature of the suites, ii) allow to rule out an anatectic origin for both subalkaline and peralkaline rhyolites and iii) indicate highly heterogeneous mantle sources, due to crustal components variously recycled in the mantle via subduction.

  5. A case of mistaken identity: alcohol withdrawal, schizophrenia, or central pontine myelinolysis?

    Directory of Open Access Journals (Sweden)

    Schneider P

    2012-02-01

    Full Text Available Paul Schneider1, Vicki A Nejtek2,3, Cheryl Hurd2,31Green Oaks Behavioral Health Care Services, Dallas, 2University of North Texas Health Science Center, Fort Worth, 3John Peter Smith Health Network, Fort Worth, Texas, USAAbstract: Demyelination is a hallmark of central pontine myelinolysis (CPM. Neuropsychiatric manifestations of this condition include weakness, quadriplegia, pseudobulbar palsy, mood changes, psychosis, and cognitive disturbances. These psychiatric symptoms are also associated with schizophrenia and alcohol withdrawal. Thus, it is clinically relevant to differentiate between CPM, schizophrenia, and alcohol withdrawal as the treatment and prognostic outcomes for each diagnosis are distinct. We present a series of events that led to a misdiagnosis of a patient admitted to the medical emergency center presenting with confusion, psychomotor agitation, and delirium who was first diagnosed with schizophrenia and alcohol withdrawal by emergency medical physicians and later discovered by the psychiatric consult team to have CPM. With a thorough psychiatric evaluation, a review of the laboratory results first showing mild hyponatremia (127 mmol/L, subsequent hypernatremia (154 mmol/L, and magnetic resonance brain imaging, psychiatrists concluded that CPM was the primary diagnosis underlying the observed neuropsychopathology. This patient has mild impairments in mood, cognition, and motor skills that remain 12 months after her emergency-center admission. This case report reminds emergency clinicians that abnormal sodium metabolism can have long-term and devastating psychopathological and neurological consequences. Differentiating between CPM, schizophrenia, and alcohol withdrawal using neuroimaging techniques and preventing the risks for CPM using slow sodium correction are paramount.Keywords: MRI, alcohol, schizophrenia, central pontine myelinolysis, hyponatremia

  6. Capillary gas-solid chromatography

    International Nuclear Information System (INIS)

    Berezkin, V.G.

    1996-01-01

    Modern state of gas adsorption chromatography in open capillary columns has been analyzed. The history of the method development and its role in gas chromatography, ways to construct open adsorptional capillary columns, foundations of the theory of retention and washing of chromatographic regions in gas adsorption capillary columns have been considered. The fields is extensively and for analyzing volatile compounds of different isotopic composition, inorganic and organic gases, volatile organic polar compounds, aqueous solutions of organic compounds. Separation of nuclear-spin isomers and isotopes of hydrogen is the first illustrative example of practical application of the adsorption capillary chromatography. It is shown that duration of protium and deuterium nuclear isomers may be reduced if the column temperature is brought to 47 K

  7. DNA typing by capillary electrophoresis

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, N.

    1997-10-08

    Capillary electrophoresis is becoming more and more important in nucleic acid analysis including DNA sequencing, typing and disease gene measurements. This work summarized the background of DNA typing. The recent development of capillary electrophoresis was also discussed. The second part of the thesis showed the principle of DNA typing based on using the allelic ladder as the absolute standard ladder in capillary electrophoresis system. Future work will be focused on demonstrating DNA typing on multiplex loci and examples of disease diagnosis in the on-line format of PCR-CE. Also capillary array electrophoresis system should allow high throughput, fast speed DNA typing. Only the introduction and conclusions for this report are available here. A reprint was removed for separate processing.

  8. Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.

    Science.gov (United States)

    Choy, Kay Rui; Watters, Dianne J

    2018-01-01

    Ataxia-telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency, and increased sensitivity to ionizing radiation. A-T is attributed to the deficiency of the protein kinase coded by the ATM (ataxia-telangiectasia mutated) gene. ATM is a sensor of DNA double-strand breaks (DSBs) and signals to cell cycle checkpoints and the DNA repair machinery. ATM phosphorylates numerous substrates and activates many cell-signaling pathways. There has been considerable debate about whether a defective DNA damage response is causative of the neurological aspects of the disease. In proliferating cells, ATM is localized mainly in the nucleus; however, in postmitotic cells such as neurons, ATM is mostly cytoplasmic. Recent studies reveal an increasing number of roles for ATM in the cytoplasm, including activation by oxidative stress. ATM associates with organelles including mitochondria and peroxisomes, both sources of reactive oxygen species (ROS), which have been implicated in neurodegenerative diseases and aging. ATM is also associated with synaptic vesicles and has a role in regulating cellular homeostasis and autophagy. The cytoplasmic roles of ATM provide a new perspective on the neurodegenerative process in A-T. This review will examine the expanding roles of ATM in cellular homeostasis and relate these functions to the complex A-T phenotype. Developmental Dynamics 247:33-46, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  9. Sugammadex reversal of rocuronium-induced neuromuscular block in a patient with ataxia-telangiectasia

    International Nuclear Information System (INIS)

    Kang, E.; Jung, J.W.

    2015-01-01

    A 17-year-old adolescent with ataxia-telangiectasia was scheduled to have laparoscopic colectomy for a resection of colon cancer. He had symptoms and signs of dyspnea, generalized dystonia, dysmetria, ataxia, and telangiectasia on the orbit. General anesthesia was performed, and rocuronium 30 mg was administered for muscle relaxation. Deep neuromuscular block (post-tetanic count: 0-8) was maintained for 95 minutes without additional rocuronium. On completion of surgery, sugammadex 80 mg was injected and train-of-four ratio was 0.93 at 210 seconds after administration. The tracheal tube was removed 5 min after the end of surgery. He recovered full spontaneous respiration and voluntary movements within 1 minute after extubation. After the surgery, he transferred to the intensive care unit and discharged 14 days after the surgery without any concrete problem. The reversal of rocuronium induced neuromuscular block by sugammadex was fast, complete, and recovered to the initial preoperative level of neuromuscular function in this patient. (author)

  10. Capillary viscosimetry on ferrofluids

    International Nuclear Information System (INIS)

    Pop, L M; Odenbach, S

    2008-01-01

    Experiments performed for different ferrofluids under shear flow have shown that an increase of the magnetic field strength applied to the sample yields an increase of the fluid's viscosity, the so called magnetoviscous effect. It has been shown that the magnitude of the effect is strongly related to the modification of the microstructure of ferrofluids and can be influenced by varying both the dipole-dipole interaction between the particles and the concentration of large particles within the fluid. This result has been further used to synthesize new ferrofluids which, on one hand, are more compatible for technical applications but, on the other hand, led to difficulties for the experimenters in measuring the viscous behavior in the presence of a magnetic field. To overcome this problem, a specially designed ferrofluid-compatible capillary viscometer has been developed. Within this paper, the experimental setup as well as experimental results concerning the investigation of the magnetoviscous effect in both diluted and concentrated cobalt-based ferrofluids are presented

  11. Dialysis delivery of an adenosine A2A agonist into the pontine reticular formation of C57BL/6J mouse increases pontine acetylcholine release and sleep.

    Science.gov (United States)

    Coleman, Christal G; Baghdoyan, Helen A; Lydic, Ralph

    2006-03-01

    In vivo microdialysis in C57BL/6J (B6) mouse was used to test the hypothesis that activating adenosine A(2A) receptors in the pontine reticular formation (PRF) increases acetylcholine (ACh) release and rapid eye movement (REM) sleep. Eight concentrations of the adenosine A(2A) receptor agonist 2-p-(2-carboxyethyl)phenethylamino-5'-N-ethylcarboxamidoadenosine hydrochloride (CGS 21680; CGS) were delivered to the PRF and ACh in the PRF was quantified. ACh release was significantly increased by dialysis with 3 mum CGS and significantly decreased by dialysis with 10 and 100 microm CGS. Co-administration of the adenosine A(2A) receptor antagonist 4-(2-[7-amino-2-(2-furyl)[1,2,4]triazolo[2,3-a][1,3,5]triazin-5-ylamino]ethyl)phenol (ZM 241385; 30 nM) blocked the CGS-induced increase in ACh release. In a second series of experiments, CGS (3 microm) was delivered by dialysis to the PRF for 2 h while recording sleep and wakefulness. CGS significantly decreased time in wakefulness (-51% in h 1; -54% in h 2), increased time in non-rapid eye movement (NREM) sleep (90% in h 1; 151% in h 2), and increased both time in REM sleep (331% in h 2) and the number of REM sleep episodes (488% in h 2). The enhancement of REM sleep is consistent with the interpretation that adenosine A(2A) receptors in the PRF of the B6 mouse contribute to REM sleep regulation, in part, by increasing ACh release in the PRF. A(2A) receptor activation may promote NREM sleep via GABAergic inhibition of arousal promoting neurons in the PRF.

  12. Telangiectasia hemorrágica hereditária e malformações arteriovenosas pulmonares - Embolização com rolhão vascular Amplatzer Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations - Embolization with Amplatzer vascular plug

    Directory of Open Access Journals (Sweden)

    Cláudia Sofia Santos

    2009-03-01

    Full Text Available As malformações arteriovenosas pulmonares (MAVP estão associadas a telangiectasia hemorrágica hereditária em cerca de 70% dos casos, podendo cursar com complicações neurológicas graves decorrentes do embolismo paradoxal potencial. A terapêutica das malformações é realizada no sentido de prevenir estas complicações. Descreve-se o caso clínico de uma doente com duas MAVP, no contexto de telangiectasia hemorrágica hereditária,submetida a embolização com o rolhão vascular Amplatzer. Este novo dispositivo é cada vez mais utilizado nestas situações, salientando-se algumas das suas características e vantagens em relação a outras técnicas de embolização mais frequentemente utilizadas.Pulmonary arteriovenous malformations (PAVMs are associated to hereditary hemorrhagic telangiectasia in about 70% of the cases. PAVMs are associated to serious neurologic complications, secondary to inherent paradoxical embolisms. Treatment of the malformations is done to prevent these complications. The authors report a clinical case of a patient with two PAVMs, with hereditary hemorrhagic telangiectasia, who was treated by embolization with na Amplatzer vascular plug, a new device increasingly used in these situations. The authors emphasise some of its characteristics and advantages when compared with other embolization techniques most commonly used.

  13. Pontine infarction induced by injury of the perforating branch of the basilar artery after blunt head impact: case report.

    Science.gov (United States)

    Yanagawa, Youichi; Iwamoto, Shin-ichiro; Nishi, Kouichirou

    2008-08-01

    A 77-year-old male pedestrian was hit by a car. On admission, he had disturbance of consciousness and left hemiplegia. Computed tomography (CT) indicated only left frontal subcutaneous hematoma and minor hemorrhage in the left frontal lobe, suggesting axonal injury. CT on hospital day 2 revealed a low density area in the right paramedian pons, but CT angiography showed no dissection or occlusion of the vertebrobasilar artery. The diagnosis was pontine infarction resulting from shearing force injury to the paramedian branch of the basilar artery. He was transferred to another hospital for rehabilitation without improvement of symptoms on hospital day 51. Paramedian pontine infarction tends to occur in patients with risk factors for arteriosclerosis, including hypertension, diabetes mellitus, hyperlipidemia, or smoking. The present elderly patient had hypertension and hyperlipidemia, so arteriosclerosis in the paramedian branch may have contributed to his susceptibility to such injury.

  14. Pontine infarction caused by medial branch injury of the basilar artery as a rare complication of cisternal drain placement

    OpenAIRE

    Horiuchi, Tetsuyoshi; Yamamoto, Yasunaga; Kuroiwa, Masafumi; Rahmah, Nunung Nur; Hongo, Kazuhiro

    2012-01-01

    We present a rare complication of cisternal drain placement during aneurysm surgery. A ruptured anterior communicating artery aneurysm was clipped through a right pterional approach. A cisternal drain was inserted from the retro-carotid to the prepontine cistern. Postoperatively, a left-sided paresis of the upper extremity had developed. A CT brain scan revealed that the drain was located between the pons and the basilar artery, resulting in a pontine infarction. Vascular neurosurgeons should...

  15. Long-term implantation of deep brain stimulation electrodes in the pontine micturition centre of the Göttingen minipig.

    Science.gov (United States)

    Jensen, Kristian N; Deding, Dorthe; Sørensen, Jens Christian; Bjarkam, Carsten R

    2009-07-01

    To implant deep brain stimulation (DBS) electrodes in the porcine pontine micturition centre (PMC) in order to establish a large animal model of PMC-DBS. Brain stems from four Göttingen minipigs were sectioned coronally into 40-mum-thick histological sections and stained with Nissl, auto-metallographic myelin stain, tyrosine hydroxylase and corticotrophin-releasing factor immunohistochemistry in order to identify the porcine PMC. DBS electrodes were then stereotaxically implanted on the right side into the PMC in four Göttingen minipigs, and the bladder response to electrical stimulation was evaluated by subsequent cystometry performed immediately after the operation and several weeks later. A paired CRF-dense area homologous to the PMC in other species was encountered in the rostral pontine tegmentum medial to the locus coeruleus and ventral to the floor of the fourth ventricle. Electrical stimulation of the CRF-dense area resulted in an increased detrusor pressure followed by visible voiding in some instances. The pigs were allowed to survive between 14 and 55 days, and electrical stimulation resulting in an increased detrusor pressure was performed on more than one occasion without affecting consciousness or general thriving. None of the pigs developed postoperative infections or died prematurely. DBS electrodes can be implanted for several weeks in the identified CRF-dense area resulting in a useful large animal model for basic research on micturition and the future clinical use of this treatment modality in neurogenic supra-pontine voiding disorders.

  16. Central pontine myelinolysis in a chronic alcoholic: A clinical and brain magnetic resonance imaging follow-up

    Directory of Open Access Journals (Sweden)

    Dujmović Irena

    2013-01-01

    Full Text Available Introduction. Central pontine myelinolysis (CPM is a noninflammatory, demyelinating lesion usually localised in the basis pontis. Chronic alcoholism is frequently associated with this condition which may have a variable clinical outcome. Until now, brain magnetic resonance imaging (MRI follow-up in alcoholic CPM cases after alcohol withdrawal has been rarely described. Case report. We reported a 30- year-old male with a 12-year history of alcohol abuse, who presented with inability to stand and walk, nausea, vomiting and somnolence. Neurological examination revealed: impared fixation on lateral gaze, dysarthria, mild spastic quadriparesis, truncal and extremity ataxia, sock-like hypesthesia and moderate decrease in vibration sense in legs. Brain MRI showed a trident-shaped non-enhancing pontine lesion highly suggestive of CPM. After an eight-month alcoholfree follow-up period, the patient’s clinical status significantly improved, while the extent of MRI pontine lesion was merely slightly reduced. Conclusion. The presented case demonstrates that CPM in chronic alcoholics may have a benign clinical course after alcohol withdrawal, which is not necessarily associated with the reduction of lesions on brain MRI. [Projekat Ministarstva nauke Republike Srbije, br. 175031

  17. Using the ultra-long pulse width pulsed dye laser and elliptical spot to treat resistant nasal telangiectasia.

    Science.gov (United States)

    Madan, Vishal; Ferguson, Janice

    2010-01-01

    Thick linear telangiectasia on the ala nasi and nasolabial crease can be resistant to treatment with the potassium-titanyl-phosphate (KTP) laser and the traditional round spot on a pulsed dye laser (PDL). We evaluated the efficacy of a 3 mm x 10 mm elliptical spot using the ultra-long pulse width on a Candela Vbeam(R) PDL for treatment of PDL- and KTP laser-resistant nasal telangiectasia. Nasal telangiectasia resistant to PDL (12 patients) and KTP laser (12 patients) in 18 patients were treated with a 3 mm x 10 mm elliptical spot on the ultra-long pulse pulsed dye laser (ULPDL) utilising long pulse width [595 nm, 40 ms, double pulse, 30:20 dynamic cooling device (DCD)]. Six patients had previously received treatment with both PDL and KTP laser prior to ULPDL (40 treatments, range1-4, mean 2.2). Complete clearance was seen in ten patients, and eight patients displayed more than 80% improvement after ULPDL treatment. Self-limiting purpura occurred with round spot PDL and erythema with KTP laser and ULPDL. Subtle linear furrows along the treatment sites were seen in three patients treated with the KTP laser. ULPDL treatment delivered using a 3 mm x 10 mm elliptical spot was non-purpuric and highly effective in the treatment of nasal telangiectasia resistant to KTP laser and PDL.

  18. Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy

    Czech Academy of Sciences Publication Activity Database

    Andrs, M.; Korábečný, J.; Nepovimova, E.; Jun, D.; Hodný, Zdeněk; Kuca, K.

    2016-01-01

    Roč. 16, č. 3 (2016), s. 200-208 ISSN 1568-0096 Institutional support: RVO:68378050 Keywords : Ataxia telangiectasia and Rad3-related kinase (ATR) * cancer * chemosensitization * DNA damage response * phosphatidylinositol 3-kinase-related protein kinases (PIKK) * radiosensitization * synthetic lethality Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.992, year: 2016

  19. Ataxia Telangiectasia

    Science.gov (United States)

    ... is the measurement of "fetal proteins," or serum alpha-fetoprotein , in the blood. These are proteins that are ... than 95 percent) have elevated levels of serum alpha-fetoprotein. When other causes of elevations of alpha-fetoprotein ...

  20. Ataxia Telangiectasia

    Science.gov (United States)

    ... the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or ... the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or ...

  1. Western blotting using capillary electrophoresis.

    Science.gov (United States)

    Anderson, Gwendolyn J; M Cipolla, Cynthia; Kennedy, Robert T

    2011-02-15

    A microscale Western blotting system based on separating sodium-dodecyl sulfate protein complexes by capillary gel electrophoresis followed by deposition onto a blotting membrane for immunoassay is described. In the system, the separation capillary is grounded through a sheath capillary to a mobile X-Y translation stage which moves a blotting membrane past the capillary outlet for protein deposition. The blotting membrane is moistened with a methanol and buffer mixture to facilitate protein adsorption. Although discrete protein zones could be detected, bands were broadened by ∼1.7-fold by transfer to membrane. A complete Western blot for lysozyme was completed in about one hour with 50 pg mass detection limit from low microgram per milliliter samples. These results demonstrate substantial reduction in time requirements and improvement in mass sensitivity compared to conventional Western blots. Western blotting using capillary electrophoresis shows promise to analyze low volume samples with reduced reagents and time, while retaining the information content of a typical Western blot.

  2. Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).

    Science.gov (United States)

    Radetskaya, L S; Makatsariya, A D; Bitsadze, V O; Khizroeva, J K

    2018-07-01

    The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

  3. Stable radioresistance in ataxia-telangiectasia cells containing DNA from normal human cells

    International Nuclear Information System (INIS)

    Kapp, L.N.; Painter, R.B.

    1989-01-01

    SV40-transformed ataxia-telangiectasia (AT) cells were transfected with a cosmid containing a normal human DNA library and selectable marker, the neo gene, which endows successfully transformed mammalian cells with resistance to the antibiotic G418. Cells from this line were irradiated with 50 Gy of X-rays and fused with non-transfected AT cells. Among the G418-resistant colonies recovered was one stably resistant to radiation. Resistance to ionizing radiation of both primary transfectant line and its fusion derivative was intermediate between that of AT cells and normal cells, as assayed by colony-forming ability and measurement of radiation-induced G 2 chromatic aberrations; both cell lines retained AT-like radioresistant DNA synthesis. Results suggest that, because radioresistance in transfected cells was not as great as in normal human cells, two hallmarks of AT, radiosensitivity and radioresistant DNA synthesis, may still be the result of a single defective AT gene. (author)

  4. Cellular and molecular response to irradiation in ataxia telangiectasia and in Fanconi's anemia

    International Nuclear Information System (INIS)

    Ridet, A.; Guillouf, C.; Duchaud, E.; Moustacchi, E.; Rosselli, F.

    1997-01-01

    Ataxia telangiectasia (AT) and Fanconi anemia (FA) are recessive genetic diseases featuring chromosomal instability, increased predisposition to cancer and in vitro hypersensitivity to ionizing radiation (AT) or DNA cross-linking agents (FA). Moreover, an in vivo hypersensitivity to γ-rays exposure was reported in both syndromes. Cellular response to irradiation includes growth arrest (cell cycle modification) and cell death (by apoptosis or necrosis). Since it is generally accepted that apoptosis modulates cellular sensitivity to genotoxic stress, it was of interest to investigate the contribution of apoptosis in determining FA and AT responses to DNA Damaging Agents. The results support the contention that the in vivo hypersensitivity to radiation in these syndromes is not related to a higher rate of apoptotic cells but could be to a higher necrotic response triggering inflammatory reactions in the patients affected by this syndromes. (authors)

  5. Cellular and molecular response to irradiation in ataxia telangiectasia and in Fanconi`s anemia

    Energy Technology Data Exchange (ETDEWEB)

    Ridet, A.; Guillouf, C.; Duchaud, E.; Moustacchi, E.; Rosselli, F. [Institut Curie-Recherche, UMR 218, CNRS, 75 - Paris (France)

    1997-03-01

    Ataxia telangiectasia (AT) and Fanconi anemia (FA) are recessive genetic diseases featuring chromosomal instability, increased predisposition to cancer and in vitro hypersensitivity to ionizing radiation (AT) or DNA cross-linking agents (FA). Moreover, an in vivo hypersensitivity to {gamma}-rays exposure was reported in both syndromes. Cellular response to irradiation includes growth arrest (cell cycle modification) and cell death (by apoptosis or necrosis). Since it is generally accepted that apoptosis modulates cellular sensitivity to genotoxic stress, it was of interest to investigate the contribution of apoptosis in determining FA and AT responses to DNA Damaging Agents. The results support the contention that the in vivo hypersensitivity to radiation in these syndromes is not related to a higher rate of apoptotic cells but could be to a higher necrotic response triggering inflammatory reactions in the patients affected by this syndromes. (authors)

  6. Cell and Molecular Biology of Ataxia Telangiectasia Heterozygous Human Mammary Epithelial Cells Irradiated in Culture

    Science.gov (United States)

    Richmond, Robert C.

    2001-01-01

    Autologous isolates of cell types from obligate heterozygotes with the autosomal disorder ataxia-telangiectasia (A-T)were used to begin a tissue culture model for assessing pathways of radiation-induced cancer formation in this target tissue. This was done by establishing cultures of stromal fibroblasts and long-term growth human mammary epithelial cells (HMEC) in standard 2-dimensional tissue culture in order to establish expression of markers detailing early steps of carcinogenesis. The presumptive breast cancer susceptibility of A-T heterozygotes as a sequel to damage caused by ionizing radiation provided reason to study expression of markers in irradiated HMEC. Findings from our study with HMEC have included determination of differences in specific protein expression amongst growth phase (e.g., log vs stationary) and growth progression (e.g., pass 7 vs pass 9), as well as differences in morphologic markers within populations of irradiated HMEC (e.g., development of multinucleated cells).

  7. The brain in hereditary hemorrhagic telangiectasia with pulmonary AVM: The clinical importance of paradoxical embolism

    International Nuclear Information System (INIS)

    Kim, W.S.; Kinnison, M.L.; Charnas, L.; Rosenbaum, A.E.; White, R.I. Jr.

    1986-01-01

    Despite the literature's emphasis on the presence of intracerebral vascular malformations in hereditary hemorrhagic telangiectasia (HHT), few cases have been documented. The authors prospectively evaluated brain CT scans in 29 consecutive patients with pulmonary arteriovenous malformations (AVMs) and known HHT. Fifty-five percent of the CT scans revealed the signs of embolic phenomena: infarctions (n=11) and intracerebral abscesses (n=5). In only one patient was a small enhancing vascular lesion seen. They conclude that embolic phenomena rather than vascular malformations cause the majority of abnormal CT findings in patients with HHT and pulmonary AVMs. Infarctions and intracerebral abscesses probably result from paradoxical embolization through the AVMs in the lungs. The therapeutic implications seem clear, since 55% of these patients are potentially treatable by balloon occlusion of the pulmonary AVMs

  8. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

    DEFF Research Database (Denmark)

    Andersen, P E; Kjeldsen, A D; Oxhøj, H

    1998-01-01

    experienced an improved functional level. One patient experienced severe pleurisy and another a rise in temperature following treatment, but otherwise no symptomatic complications were observed. CONCLUSION: Embolotherapy is a definitive treatment for PAVMs: it is very effective with a high success rate......PURPOSE: To evaluate the clinical results of embolization of pulmonary arteriovenous malformations (PAVMs) in patients with hereditary hemorrhagic telangiectasia (HHT), the Rendu-Osler-Weber syndrome. MATERIAL AND METHODS: Twelve patients in the county of Fyn, Denmark, were treated...... with transcatheter embolization of 20 PAVMs using 12 detachable silicone balloons and 26 steel coils. RESULTS: All PAVMs were completely occluded and we observed a significant rise in PaO2 after treatment and a significant decrease in right-to-left shunt estimated by contrast echocardiography. All patients...

  9. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.

    2012-01-01

    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817......-3T>G in ENG) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal...... the presence of a possible sequence variant, which could explain the presumed allelic dropout. Results: Allelic dropout caused by a six-nucleotide duplication close to the standard reverse primer was the assumed cause of a false homozygous diagnosis. Conclusion: Sequence variants outside of the primer regions...

  10. Intranasal topical estrogen in the management of epistaxis in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Minami, Kazuhiko; Haji, Tomoyuki

    2016-01-01

    Application of topical estriol ointment is an effective treatment for hereditary hemorrhagic telangiectasia (HHT) epistaxis. HHT is an autosomal-dominant disease characterized by epistaxis in more than 96% of patients. Management of this major symptom, epistaxis, has not been standardized. This study reports experience with topical application of estriol in patients with HHT. Five patients with a confirmed diagnosis of HHT who first visited the hospital between 2012 and 2013 received 0.1% estriol ointment and were guided to apply the ointment twice daily to the anterior part of both nasal cavities. Severity of epistaxis was valued using epistaxis severity score (ESS) before and 3 months after initiating therapy. Five patients (three males, two females) received treatment. After the initiation of treatment, intensity and frequency of epistaxis became moderate in all patients. ESS decreased significantly from pre- to post-treatment (p = 0.043). No adverse events were recorded during follow-up.

  11. [Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].

    Science.gov (United States)

    Luo, Jie-wei; Chen, Hui; Yang, Liu-qing; Zhu, Ai-lan; Wu, Yan-an; Li, Jian-wei

    2008-06-01

    To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2). The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced. The proband had obvious telangiectasis of gastric mucosa, and small arteriovenous fistula in the right kidney. All the patients in the HHT2 family had iterative epistaxis or bleeding in other sites, and had telangiectasis of nasal mucosa, tunica mucosa oris and finger tips. ACVRL1 gene analysis confirmed that there is frameshift mutation caused by deletion of G145 in exon 3 in the 4 patients, but the mutation is absent in 2 members without HHT2. The HHT2 family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.

  12. Impacts on oil recovery from capillary pressure and capillary heterogeneities

    Energy Technology Data Exchange (ETDEWEB)

    Bognoe, Thomas

    2008-07-01

    The main conclusions drawn from this thesis are; 7 scientific papers are published on a broad variety of subjects, and describes in detail the experiments and research treated in this thesis. Scientific research has been performed, investigating the subjects of capillary pressure and capillary heterogeneities from different angles. This thesis discusses the findings in this study and aims to illustrate the benefits of the results obtained for further development of other experiments, and/or even the industrial benefits in field development. The methods for wettability alteration have developed throughout the work. From producing heterogeneous wettability alterations, the methods have improved to giving both radial and lateral uniform wettability alterations, which also remains unaltered throughout the duration of the experimental work. The alteration of wettability is dependent on initial water saturation, flow rate, aging time and crude oil composition. Capillary pressure and relative permeability curves have been measured for core plugs at different wettabilities using conventional centrifuge methods. The trends observed are mostly consistent with theory. The production mechanisms of strongly and moderately water wet chalk has been investigated. At strongly water wet conditions in fractured chalk; the flow is governed by capillary forces, showing strong impact from the fractures. At moderately water wet conditions, the impact of the fractures are absent, and a dispersed water front is observed during the displacement. The oil recovery is about the same, at the two wettabilities. Fracture crossing mechanisms at the same wettability conditions have been mapped. And the observations are consistent with those of the water floods. During strongly water wet displacement, the fracture crossing is occurring once the inlet core has reached endpoint of spontaneous imbibition. At moderately water wet conditions the fracture crossing is less abrupt, and creation of wetting

  13. Paramecium swimming in capillary tube

    Science.gov (United States)

    Jana, Saikat; Um, Soong Ho; Jung, Sunghwan

    2012-04-01

    Swimming organisms in their natural habitat need to navigate through a wide range of geometries and chemical environments. Interaction with boundaries in such situations is ubiquitous and can significantly modify the swimming characteristics of the organism when compared to ideal laboratory conditions. We study the different patterns of ciliary locomotion in glass capillaries of varying diameter and characterize the effect of the solid boundaries on the velocities of the organism. Experimental observations show that Paramecium executes helical trajectories that slowly transition to straight lines as the diameter of the capillary tubes decreases. We predict the swimming velocity in capillaries by modeling the system as a confined cylinder propagating longitudinal metachronal waves that create a finite pressure gradient. Comparing with experiments, we find that such pressure gradient considerations are necessary for modeling finite sized ciliary organisms in restrictive geometries.

  14. Efficacy of Intravitreal Bevacizumab in Treatment of Proliferative Type 2 Idiopathic Juxtafoveal Telangiectasia

    Directory of Open Access Journals (Sweden)

    Ökkeş Baz

    2017-06-01

    Full Text Available Objectives: To evaluate the effectiveness of intravitreal bevacizumab (IVB in patients with subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia. Materials and Methods: Ten eyes of 10 patients were included in this retrospective study. All cases were treated with IVB (1.25 mg bevacizumab. Visual acuity and slit-lamp anterior and posterior segment examinations were performed at each visit. Central macular thickness (CMT and intraretinal/subretinal fluid were evaluated via spectral domain optical coherence tomography (OCT. Loss of a line in visual acuity chart and presence of fluid on OCT were defined as criteria for repeated treatment. Results: The mean age of patients was 66.0±7.0 years (56-75. The mean follow-up time was 54.7±16.0 month (24-72. The mean BCVA was 0.62±0.35 (0.00-1.00 logMAR at baseline and 0.54±0.35 (0.00-1.00 logMAR at final exam (p=0.03. The mean CMT was 251±25.4 µm at baseline and 239±39.3 µm at final exam (p=0.01. Patients received an average of 1.7±1.0 IVB injections during follow-up. At baseline, all cases had intraretinal/subretinal fluid. There was no fluid at final examination of all cases. Conclusion: IVB treatment may be effective in the treatment of subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia.

  15. Experience of the Irish National Centre for hereditary haemorrhagic telangiectasia 2003-2008.

    LENUS (Irish Health Repository)

    Ni Bhuachalla, C F

    2012-01-31

    Hereditary haemorrhagic telangiectasia (HHT) is a group of autosomal dominant disorders of vascular structure. The Irish National Centre for HHT at the Mercy University Hospital, Cork, Ireland was founded in 2003. From 2003 to 2008, screening of 164 patients with contrast echocardiography, thoracic computerised tomography (CT) and cerebral magnetic resonance imaging (MRI) has identified 88 patients with definite HHT, 72 (82%) of whom had epistaxis, 70 (80%) had telangiectasia and 81 (92%) had a first-degree relative with HHT. We sought to describe the manifestations of HHT in an Irish population and to determine differences between internationally reported data. The HHT patient database was analysed to describe demographics, clinical manifestations and interventional procedures performed in all referred patients. Contrast echocardiography and\\/or CT were performed in 86 patients with definite HHT, identifying 27 patients (31%) with pulmonary arteriovenous malformations (pAVMs). Nineteen patients with single or multiple pAVMs had 28 embolisation procedures performed, with 1-6 pAVMs embolised per procedure. Cerebral MRI was performed in 78 (89%) patients and 2 (2.3%) had cerebral arteriovenous malformations (cAVMs). HHT prevalence is thought to be 1 in 2500-8000, suggesting that there are many undiagnosed cases in Irish patients. Internationally published data suggest a prevalence of 15-35% for pAVMs and 10-23% for cAVMs in patients with HHT. While the prevalence of pAVMs in our group is consistent with these data, the prevalence of cAVMs is considerably lower, suggesting that Irish patients with HHT may differ genotypically and phenotypically from those in other countries.

  16. Weight-controlled capillary viscometer

    Science.gov (United States)

    Digilov, Rafael M.; Reiner, M.

    2005-11-01

    The draining of a water column through a vertical discharge capillary tube is examined with the aid of a force sensor. The change of the mass of the liquid in the column with time is found to be not purely exponential as implied by Poiseuille's law. Using observed residuals associated with a kinetic energy correction, an approximate formula for the mass as a function of time is derived and excellent agreement with experimental data is attained. These results are verified by a viscosity test of distilled water at room temperature. A simple and inexpensive weight-controlled capillary viscometer is proposed that is especially suitable for undergraduate physics and chemistry laboratories.

  17. Genetic variability of Artemisia capillaris (Wormwood capillary) by ...

    African Journals Online (AJOL)

    The genetic variability among individuals of Artemisia capillaris from state of Terengganu, Malaysia was examined by using the random amplified polymorphic DNA (RAPD) technique. The samples were collected from differences regional in Terengganu State. The genomic DNA was extracted from the samples leaves.

  18. Hypocretin and GABA interact in the pontine reticular formation to increase wakefulness.

    Science.gov (United States)

    Brevig, Holly N; Watson, Christopher J; Lydic, Ralph; Baghdoyan, Helen A

    2010-10-01

    Hypocretin-1/orexin A administered directly into the oral part of rat pontine reticular formation (PnO) causes an increase in wakefulness and extracellular gamma-aminobutyric acid (GABA) levels. The receptors in the PnO that mediate these effects have not been identified. Therefore, this study tested the hypothesis that the increase in wakefulness caused by administration of hypocretin-1 into the PnO occurs via activation of GABAA receptors and hypocretin receptors. Within/between subjects. University of Michigan. Twenty-three adult male Crl:CD*(SD) (Sprague Dawley) rats. Microinjection of hypocretin-1, bicuculline (GABAA receptor antagonist), SB-334867 (hypocretin receptor-1 antagonist), and Ringer solution (vehicle control) into the PnO. Hypocretin-1 caused a significant concentration-dependent increase in wakefulness and decrease in rapid eye movement (REM) sleep and non-REM (NREM) sleep. Coadministration of SB-334867 and hypocretin-1 blocked the hypocretin-1-induced increase in wakefulness and decrease in both the NREM and REM phases of sleep. Coadministration of bicuculline and hypocretin-1 blocked the hypocretin-1-induced increase in wakefulness and decrease in NREM sleep caused by hypocretin-1. The increase in wakefulness caused by administering hypocretin-1 to the PnO is mediated by hypocretin receptors and GABAA receptors in the PnO. These results show for the first time that hypocretinergic and GABAergic transmission in the PnO can interact to promote wakefulness.

  19. Pontine and Thalamic Influences on Fluid Rewards: III. Anticipatory Contrast for Sucrose and Corn Oil

    Science.gov (United States)

    Liang, Nu-Chu; Norgren, Ralph; Grigson, Patricia S

    2011-01-01

    An anticipatory contrast effect (ACE) occurs when, across daily trials, an animal comes to respond less than normally to a first stimulus when it is followed shortly by a second, more preferred solution. Classically, ACE is studied using a low (L) concentration of saccharin or sucrose, followed by access to a higher (H) concentration of sucrose. Subjects in the control condition have two bouts of access to the weaker solution presented on the same schedule. The ACE is measured by the difference in intake of the first bout low solution between subjects in the low-low (L-L) vs. the low-high (L-H) conditions. Here we used this paradigm with sham feeding rats and determined that nutritional feedback was unnecessary for the development of ACE with two concentrations of sucrose or with two concentrations of corn oil. Next we showed that ibotenic acid lesions centered in the orosensory thalamus spared ACEs for both sucrose and corn oil. In contrast, lesions of the pontine parabrachial nuclei (PBN), the second central relay for taste in the rat, disrupted ACEs for both sucrose and corn oil. Although the sensory modalities needed for the oral detection of fats remain controversial, it appears that the PBN is involved in processing the comparison of disparate concentrations of sucrose and oil reward. PMID:21703289

  20. Incidence and mechanism of central pontine myelinolysis based on analysis of MRI images and risk factors

    Energy Technology Data Exchange (ETDEWEB)

    Kondo, Masato [Akita Univ. (Japan). School of Medicine

    2000-02-01

    In this study, the incidence of central pontine myelinolysis (CPM)-like lesions on MRI images was studied in 1917 subjects, 1,500 of which were psychiatric patients and 417 were patients attending a brain health examination. The CPM-like lesions were first classified into four groups based on the characteristics of their MRI images: group 1 showed symmetrical lesions on both T1 low and T2 high images and were considered to be typical CPM; group 2 showed symmetrical high intensity lesions only on T2 images; group 3 had asymmetrical lesions only on T2 images; and group 4 had asymmetrical lesions on both T1 low and T2 high images. Furthermore, the relationships of each group with particular risk factors, such as alcoholism, hypertension, hyperlipidemia were statistically analysed. The cause of CPM-like features in the MRI images were discussed. Among our subjects, the incidence of CPM-like lesions was 3.8%, and that of group 1 was 1.2%. Significant correlations between group 1 and alcoholism, and group 3 and 4 with brain ischemic lesions were observed. A previous hypothesis that group 2 may be a premature state of CPM is not supported by our results. (author)

  1. Diffuse intrinsic pontine glioma: is MRI surveillance improved by region of interest volumetry?

    Science.gov (United States)

    Riley, Garan T; Armitage, Paul A; Batty, Ruth; Griffiths, Paul D; Lee, Vicki; McMullan, John; Connolly, Daniel J A

    2015-02-01

    Paediatric diffuse intrinsic pontine glioma (DIPG) is noteworthy for its fibrillary infiltration through neuroparenchyma and its resultant irregular shape. Conventional volumetry methods aim to approximate such irregular tumours to a regular ellipse, which could be less accurate when assessing treatment response on surveillance MRI. Region-of-interest (ROI) volumetry methods, using manually traced tumour profiles on contiguous imaging slices and subsequent computer-aided calculations, may prove more reliable. To evaluate whether the reliability of MRI surveillance of DIPGs can be improved by the use of ROI-based volumetry. We investigated the use of ROI- and ellipsoid-based methods of volumetry for paediatric DIPGs in a retrospective review of 22 MRI examinations. We assessed the inter- and intraobserver variability of the two methods when performed by four observers. ROI- and ellipsoid-based methods strongly correlated for all four observers. The ROI-based volumes showed slightly better agreement both between and within observers than the ellipsoid-based volumes (inter-[intra-]observer agreement 89.8% [92.3%] and 83.1% [88.2%], respectively). Bland-Altman plots show tighter limits of agreement for the ROI-based method. Both methods are reproducible and transferrable among observers. ROI-based volumetry appears to perform better with greater intra- and interobserver agreement for complex-shaped DIPG.

  2. Diffuse intrinsic pontine glioma: is MRI surveillance improved by region of interest volumetry?

    International Nuclear Information System (INIS)

    Riley, Garan T.; Armitage, Paul A.; Griffiths, Paul D.; Batty, Ruth; Connolly, Daniel J.A.; Lee, Vicki; McMullan, John

    2015-01-01

    Paediatric diffuse intrinsic pontine glioma (DIPG) is noteworthy for its fibrillary infiltration through neuroparenchyma and its resultant irregular shape. Conventional volumetry methods aim to approximate such irregular tumours to a regular ellipse, which could be less accurate when assessing treatment response on surveillance MRI. Region-of-interest (ROI) volumetry methods, using manually traced tumour profiles on contiguous imaging slices and subsequent computer-aided calculations, may prove more reliable. To evaluate whether the reliability of MRI surveillance of DIPGs can be improved by the use of ROI-based volumetry. We investigated the use of ROI- and ellipsoid-based methods of volumetry for paediatric DIPGs in a retrospective review of 22 MRI examinations. We assessed the inter- and intraobserver variability of the two methods when performed by four observers. ROI- and ellipsoid-based methods strongly correlated for all four observers. The ROI-based volumes showed slightly better agreement both between and within observers than the ellipsoid-based volumes (inter-[intra-]observer agreement 89.8% [92.3%] and 83.1% [88.2%], respectively). Bland-Altman plots show tighter limits of agreement for the ROI-based method. Both methods are reproducible and transferrable among observers. ROI-based volumetry appears to perform better with greater intra- and interobserver agreement for complex-shaped DIPG. (orig.)

  3. Diffuse intrinsic pontine glioma: is MRI surveillance improved by region of interest volumetry?

    Energy Technology Data Exchange (ETDEWEB)

    Riley, Garan T. [University Hospital of North Tees, Department of General Radiology, North Tees and Hartlepool NHS Foundation Trust, Stockton-on-Tees, Cleveland (United Kingdom); Armitage, Paul A.; Griffiths, Paul D. [University of Sheffield, Academic Unit of Radiology, Sheffield (United Kingdom); Batty, Ruth; Connolly, Daniel J.A. [Sheffield Children' s NHS Foundation Trust, Department of Radiology, Sheffield (United Kingdom); Lee, Vicki [Sheffield Children' s NHS Foundation Trust, Department of Oncology, Sheffield (United Kingdom); McMullan, John [Sheffield Children' s NHS Foundation Trust, Department of Neurosurgery, Sheffield (United Kingdom)

    2014-08-21

    Paediatric diffuse intrinsic pontine glioma (DIPG) is noteworthy for its fibrillary infiltration through neuroparenchyma and its resultant irregular shape. Conventional volumetry methods aim to approximate such irregular tumours to a regular ellipse, which could be less accurate when assessing treatment response on surveillance MRI. Region-of-interest (ROI) volumetry methods, using manually traced tumour profiles on contiguous imaging slices and subsequent computer-aided calculations, may prove more reliable. To evaluate whether the reliability of MRI surveillance of DIPGs can be improved by the use of ROI-based volumetry. We investigated the use of ROI- and ellipsoid-based methods of volumetry for paediatric DIPGs in a retrospective review of 22 MRI examinations. We assessed the inter- and intraobserver variability of the two methods when performed by four observers. ROI- and ellipsoid-based methods strongly correlated for all four observers. The ROI-based volumes showed slightly better agreement both between and within observers than the ellipsoid-based volumes (inter-[intra-]observer agreement 89.8% [92.3%] and 83.1% [88.2%], respectively). Bland-Altman plots show tighter limits of agreement for the ROI-based method. Both methods are reproducible and transferrable among observers. ROI-based volumetry appears to perform better with greater intra- and interobserver agreement for complex-shaped DIPG. (orig.)

  4. Central pontine and extrapontine myelinolysis in an infant associated with the treatment of craniopharyngioma: case report.

    Science.gov (United States)

    Tsutsumi, Satoshi; Yasumoto, Yukimasa; Ito, Masanori

    2008-08-01

    A 3-year-old girl presented with osmotic demyelination syndrome after undergoing uneventful neuroendoscopic cystostomy for a growing cystic suprasellar craniopharyngioma following microscopic subtotal resection 1 year previously. Endocrinopathy had well been controlled by hormone replacement therapy and administration of 1-amino-8-d-arginine-vasopressin with serum sodium concentration within the normal range. She presented generalized seizure and fever on postoperative day 7, with hyponatremia beginning on postoperative day 4 and deteriorating despite frequent correction. The serum sodium concentration began to fluctuate on the same day, in the range 111-164 mEq/l, which lasted for 2 weeks, refractory for intense management. Her body temperature also fluctuated between hypo- and hyperthermia not correlated with serum inflammatory markers. Her conscious disturbance progressively deteriorated with spastic paraparesis. T(2)-weighted magnetic resonance (MR) imaging taken on postoperative day 19 revealed hyperintense areas in the pons, external capsule, bilateral thalami, and basal nuclei, which had not been recognized before, suggesting osmotic demyelination syndrome causing central pontine and extrapontine myelinolysis. MR imaging taken on postoperative days 230 and 360 showed some diminished lesions but others persisted and resulted in a cavity. The patient's depressed conscious level did not improve. Suprasellar craniopharyngioma with long-standing hypothalamic dysfunction may be associated with severe osmotic demyelination syndrome even after less invasive surgery, so serum sodium derangement after surgery should be promptly corrected even if only subtle signs are present.

  5. Polo-like Kinase 1 as a potential therapeutic target in Diffuse Intrinsic Pontine Glioma

    International Nuclear Information System (INIS)

    Amani, Vladimir; Prince, Eric W; Alimova, Irina; Balakrishnan, Ilango; Birks, Diane; Donson, Andrew M.; Harris, Peter; Levy, Jean M. Mulcahy; Handler, Michael; Foreman, Nicholas K.; Venkataraman, Sujatha; Vibhakar, Rajeev

    2016-01-01

    Diffuse intrinsic pontine gliomas (DIPGs) are highly aggressive, fatal, childhood tumors that arise in the brainstem. DIPGs have no effective treatment, and their location and diffuse nature render them inoperable. Radiation therapy remains the only standard of care for this devastating disease. New therapeutic targets are needed to develop novel therapy for DIPG. We examined the expression of PLK1 mRNA in DIPG tumor samples through microarray analysis and found it to be up regulated versus normal pons. Using the DIPG tumor cells, we inhibited PLK1 using a clinically relevant specific inhibitor BI 6727 and evaluated the effects on, proliferation, apoptosis, induction of DNA damage and radio sensitization of the DIPG tumor cells. Treatment of DIPG cell lines with BI 6727, a new generation, highly selective inhibitor of PLK1, resulted in decreased cell proliferation and a marked increase in cellular apoptosis. Cell cycle analysis showed a significant arrest in G2-M phase and a substantial increase in cell death. Treatment also resulted in an increased γH2AX expression, indicating induction of DNA damage. PLK1 inhibition resulted in radiosensitization of DIPG cells. These findings suggest that targeting PLK1 with small-molecule inhibitors, in combination with radiation therapy, will hold a novel strategy in the treatment of DIPG that warrants further investigation

  6. Diffuse intrinsic pontine glioma in children and adolescents: a single-center experience.

    Science.gov (United States)

    Vallero, Stefano Gabriele; Bertin, Daniele; Basso, Maria Eleonora; Pittana, Laura Stefania; Mussano, Anna; Fagioli, Franca

    2014-06-01

    Patients with diffuse intrinsic pontine glioma (DIPG) have a very poor prognosis. Only radiotherapy (XRT) has proven to be effective in delaying the disease progression. Several chemotherapy schedules have been applied so far, but none demonstrated significant improvements in progression and survival. We retrospectively analyzed the clinical data of children diagnosed with DIPG at our center (Pediatric Hospital "Regina Margherita," Turin, Italy) between 1999 and 2013. Progression-free survival (PFS) and overall survival (OS) were used to describe the outcomes. Twenty-four children were included in our report. Patients diagnosed before March 2003 (n = 12) were treated with XRT and vincristine (VCR); the remaining 12 patients received XRT and temozolomide (TMZ). Progression-free survival was 18.8 % at 1 year (SE = 7.6 %), while overall survival was 44.1 % at 1 year (SE = 9.9 %). Median PFS was 8.1 months, whereas median OS was 11.2 months. No statistically significant difference in PFS or OS was evidenced between the two treatment groups. Radiotherapy followed by VCR or TMZ allows obtaining results that are in line with previous reports, with no advantages over other similar treatment schedules. DIPGs are challenging tumors with a dismal outcome. Further research and newer therapies are urgently needed in order to achieve improvements in survival.

  7. Incidence and mechanism of central pontine myelinolysis based on analysis of MRI images and risk factors

    International Nuclear Information System (INIS)

    Kondo, Masato

    2000-01-01

    In this study, the incidence of central pontine myelinolysis (CPM)-like lesions on MRI images was studied in 1917 subjects, 1,500 of which were psychiatric patients and 417 were patients attending a brain health examination. The CPM-like lesions were first classified into four groups based on the characteristics of their MRI images: group 1 showed symmetrical lesions on both T1 low and T2 high images and were considered to be typical CPM; group 2 showed symmetrical high intensity lesions only on T2 images; group 3 had asymmetrical lesions only on T2 images; and group 4 had asymmetrical lesions on both T1 low and T2 high images. Furthermore, the relationships of each group with particular risk factors, such as alcoholism, hypertension, hyperlipidemia were statistically analysed. The cause of CPM-like features in the MRI images were discussed. Among our subjects, the incidence of CPM-like lesions was 3.8%, and that of group 1 was 1.2%. Significant correlations between group 1 and alcoholism, and group 3 and 4 with brain ischemic lesions were observed. A previous hypothesis that group 2 may be a premature state of CPM is not supported by our results. (author)

  8. Central pontine myelinolysis (CPM) associated with tacrolimus (FK506) after liver transplantation.

    Science.gov (United States)

    Fukazawa, Kyota; Nishida, Seigo; Aguina, Luz; Pretto, Ernesto

    2011-01-01

    Central pontine myelinolysis (CPM) is the most detrimental neurologic complication after liver transplantation. The incidence of CPM after liver transplantation ascends to 17%. Although the precise etiology and pathogenesis of CPM is largely unknown, a growing literature implicates a possible role of immunosuppressive agents, such as Cyclosporine (incidence 30%) on its development. Other immunosuppressive agents also can cause CPM but the frequency of these cases is less compared to Cyclosporine. There is only one case report for Tacrolimus (FK506)-associated speech disorder, which might be an atypical presentation of CPM, and no case reports for Rapamycin. We present a case of Tacrolimus induced CPM. A 62-year-old woman who underwent liver transplantation developed clinical symptoms with radiologic evidence consistent with CPM 7 days after liver transplant. Since the electrolytes in this patient remained normal from her admission, the hypothesis of inmunossupressor neurotoxicity was established and the therapy was switched, resulting in an evident clinical and radiological improvement of her condition in the following days. Five months later, the patient's only neurological deficit was slight dysarthria and a follow-up MRI showed no abnormalities. This case provides evidence of Tacrolimus-associated CPM after transplantation, which presented with a classic "lock-in syndrome" with radiographic confirmation.

  9. 3D capillary valves for versatile capillary patterning of channel walls

    NARCIS (Netherlands)

    Papadimitriou, Vasileios; van den Berg, Albert; Eijkel, Jan C.T.

    2016-01-01

    We demonstrate passive capillary patterning of channel walls with a liquid in situ. Patterning is performed using a novel 3D capillary valve system combining three standard capillary stop valves. A range of different patterns is demonstrated in three channel walls. Capillary patterning was designed

  10. Filling of charged cylindrical capillaries

    NARCIS (Netherlands)

    Das, Siddhartha; Chanda, Sourayon; Eijkel, J.C.T.; Tas, N.R.; Chakraborty, Suman; Mitra, Sushanta K.

    2014-01-01

    We provide an analytical model to describe the filling dynamics of horizontal cylindrical capillaries having charged walls. The presence of surface charge leads to two distinct effects: It leads to a retarding electrical force on the liquid column and also causes a reduced viscous drag force because

  11. Capillary thinning of polymeric filaments

    DEFF Research Database (Denmark)

    Kolte, Mette Irene; Szabo, Peter

    1999-01-01

    The capillary thinning of filaments of a Newtonian polybutene fluid and a viscoelastic polyisobutylene solution are analyzed experimentally and by means of numerical simulation. The experimental procedure is as follows. Initially, a liquid sample is placed between two cylindrical plates. Then, th...

  12. Vacuum scanning capillary photoemission microscopy.

    Science.gov (United States)

    Aseyev, S A; Cherkun, A P; Mironov, B N; Petrunin, V V; Chekalin, S V

    2017-08-01

    We demonstrate the use of a conical capillary in a scanning probe microscopy for surface analysis. The probe can measure photoemission from a substrate by transmitting photoelectrons along the capillary as a function of probe position. The technique is demonstrated on a model substrate consisting of a gold reflecting layer on a compact disc which has been illuminated by an unfocused laser beam with a wavelength 400nm, from a femtosecond laser with a beam size of 4mm. A quartz capillary with a 2-µm aperture has been used in the experiments. The period of gold microstructure, shown to be 1.6µ, was measured by the conical probe operating in shear force mode. In shear force regime, the dielectric capillary has been used as a "classical" SPM tip, which provided images reflecting the surface topology. In a photoelectron regime photoelectrons passed through hollow tip and entered a detector. The spatial distribution of the recorded photoelectrons consisted of periodic mountain-valley strips, resembling the surface profile of the sample. Submicron spatial resolution has been achieved. This approach paves the way to study pulsed photodesorption of large organic molecular ions with high spatial and element resolution using the combination of a hollow-tip scanner with time-of-flight technique. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Capillary Sharp Inner Edge Manufacturing

    Czech Academy of Sciences Publication Activity Database

    Hošek, Jan; Studenovský, K.; Najdek, D.

    2009-01-01

    Roč. 19, č. 35 (2009), s. 19-25 ISSN 1584-5982. [MECAHITECH 09 /1./. Bukurešť, 08.10.2009-09.10.2009] R&D Projects: GA AV ČR IAA200760905 Institutional research plan: CEZ:AV0Z20760514 Keywords : capillary * edge * manufacturing Subject RIV: JR - Other Machinery

  14. X-ray focusing using capillary arrays

    International Nuclear Information System (INIS)

    Nugent, K.A.; Chapman, H.N.

    1990-01-01

    A new form of X-ray focusing device based on glass capillary arrays is presented. Theoretical and experimental results for array of circular capillaries and theoretical and computational results for square hole capillaries are given. It is envisaged that devices such as these will find wide applications in X-ray optics as achromatic condensers and collimators. 3 refs., 4 figs

  15. Imaging study of lymphoreticular tumor development in ataxia-telangiectasia and Nijmegen breakage syndrome; Estudio por imagen del desarrollo de tumores linforreticulares en la ataxia telangiectasia y el sindrome de Nijmegen

    Energy Technology Data Exchange (ETDEWEB)

    Martinez-Leon, M. I.; Ceres-Ruiz, L.; Cuesta, M. A.; Garcia-Martin, F. J. [Hospital Materno-Infantil C.H.U. Carlos Haya. Malaga (Spain)

    2003-07-01

    Ataxia-telangiectasia (AT), or Louis-Bar syndrome, is an autosomal recessive illness characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, immunodeficiency combined with susceptibility to sinopulmonary infections and high incidence of neoplastic development. Nijmegen breakage syndrome (NBS) is a variant of AT, is also an autosomal recessive illness that presents cerebellar ataxia, as well as combined immunodeficiency and a tendency toward tumor development. Contrary to Louis-Bar syndrome, it doesn't present telangiectasia and exhibits a characteristics phenotype (short stature, bird-like face and microcephaly). Both entities are classified as syndrome of chromosomal instability or chromosomal fragility, a group which also includes Bloom syndrome and Fanconi anemia. All of these show an increase in the frequency of neoplastic pathologies, mainly lymphoid tumors. We present three patients,two with AT and one with NBS, who developed different lymphoma types in the course of the illness. We highlight the most outstanding aspects from a clinical-radiological point of view. (Author) 17 refs.

  16. A Rare Case of Central Pontine Myelinolysis in Overcorrection of Hyponatremia with Total Parenteral Nutrition in Pregnancy

    Directory of Open Access Journals (Sweden)

    Kalyana C. Janga

    2015-01-01

    Full Text Available A 42-year-old high risk pregnant female presented with hyponatremia from multiple causes and was treated with total parenteral nutrition. She developed acute hypernatremia due to the stage of pregnancy and other comorbidities. All the mechanisms of hyponatremia and hypernatremia were summarized here in our case report. This case has picture (graph representation of parameters that led to changes in serum sodium and radiological findings of central pontine myelinolysis on MRI. In conclusion we present a complicated case serum sodium changes during pregnancy and pathophysiological effects on serum sodium changes during pregnancy.

  17. Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks

    Directory of Open Access Journals (Sweden)

    Sam P. Nayler

    2017-10-01

    Full Text Available Ataxia-telangiectasia (A-T is a rare genetic disorder caused by loss of function of the ataxia-telangiectasia-mutated kinase and is characterized by a predisposition to cancer, pulmonary disease, immune deficiency and progressive degeneration of the cerebellum. As animal models do not faithfully recapitulate the neurological aspects, it remains unclear whether cerebellar degeneration is a neurodevelopmental or neurodegenerative phenotype. To address the necessity for a human model, we first assessed a previously published protocol for the ability to generate cerebellar neuronal cells, finding it gave rise to a population of precursors highly enriched for markers of the early hindbrain such as EN1 and GBX2, and later more mature cerebellar markers including PTF1α, MATH1, HOXB4, ZIC3, PAX6, and TUJ1. RNA sequencing was used to classify differentiated cerebellar neurons generated from integration-free A-T and control induced pluripotent stem cells. Comparison of RNA sequencing data with datasets from the Allen Brain Atlas reveals in vitro-derived cerebellar neurons are transcriptionally similar to discrete regions of the human cerebellum, and most closely resemble the cerebellum at 22 weeks post-conception. We show that patient-derived cerebellar neurons exhibit disrupted gene regulatory networks associated with synaptic vesicle dynamics and oxidative stress, offering the first molecular insights into early cerebellar pathogenesis of ataxia-telangiectasia.

  18. Treatment of nonneovascular idiopathic macular telangiectasia type 2 with intravitreal ranibizumab: results of a phase II clinical trial.

    Science.gov (United States)

    Toy, Brian C; Koo, Euna; Cukras, Catherine; Meyerle, Catherine B; Chew, Emily Y; Wong, Wai T

    2012-05-01

    To evaluate the safety and preliminary efficacy of intravitreal ranibizumab for nonneovascular idiopathic macular telangiectasia Type 2. Single-center, open-label Phase II clinical trial enrolling five participants with bilateral nonneovascular idiopathic macular telangiectasia Type 2. Intravitreal ranibizumab (0.5 mg) was administered every 4 weeks in the study eye for 12 months with the contralateral eye observed. Outcome measures included changes in best-corrected visual acuity, area of late-phase leakage on fluorescein angiography, and retinal thickness on optical coherence tomography. The study treatment was well tolerated and associated with few adverse events. Change in best-corrected visual acuity at 12 months was not significantly different between treated study eyes (0.0 ± 7.5 letters) and control fellow eyes (+2.2 ± 1.9 letters). However, decreases in the area of late-phase fluorescein angiography leakage (-33 ± 20% for study eyes, +1 ± 8% for fellow eyes) and in optical coherence tomography central subfield retinal thickness (-11.7 ± 7.0% for study eyes and -2.9 ± 3.5% for fellow eyes) were greater in study eyes compared with fellow eyes. Despite significant anatomical responses to treatment, functional improvement in visual acuity was not detected. Intravitreal ranibizumab administered monthly over a time course of 12 months is unlikely to provide a general and significant benefit to patients with nonneovascular idiopathic macular telangiectasia Type 2.

  19. Fear Extinction Memory Consolidation Requires Potentiation of Pontine-Wave Activity during REM Sleep

    Science.gov (United States)

    Datta, Subimal; O'Malley, Matthew W .

    2013-01-01

    Sleep plays an important role in memory consolidation within multiple memory systems including contextual fear extinction memory, but little is known about the mechanisms that underlie this process. Here, we show that fear extinction training in rats, which extinguished conditioned fear, increased both slow-wave sleep and rapid-eye movement (REM) sleep. Surprisingly, 24 h later, during memory testing, only 57% of the fear-extinguished animals retained fear extinction memory. We found that these animals exhibited an increase in phasic pontine-wave (P-wave) activity during post-training REM sleep, which was absent in the 43% of animals that failed to retain fear extinction memory. The results of this study provide evidence that brainstem activation, specifically potentiation of phasic P-wave activity, during post-training REM sleep is critical for consolidation of fear extinction memory. The results of this study also suggest that, contrary to the popular hypothesis of sleep and memory, increased sleep after training alone does not guarantee consolidation and/or retention of fear extinction memory. Rather, the potentiation of specific sleep-dependent physiological events may be a more accurate predictor for successful consolidation of fear extinction memory. Identification of this unique mechanism will significantly improve our present understanding of the cellular and molecular mechanisms that underlie the sleep-dependent regulation of emotional memory. Additionally, this discovery may also initiate development of a new, more targeted treatment method for clinical disorders of fear and anxiety in humans that is more efficacious than existing methods such as exposure therapy that incorporate only fear extinction. PMID:23467372

  20. Off the beaten path: drug addiction and the pontine laterodorsal tegmentum.

    Science.gov (United States)

    Kohlmeier, Kristi A

    2013-01-01

    Drug addiction is a multileveled behavior controlled by interactions among many diverse neuronal groups involving several neurotransmitter systems. The involvement of brainstem-sourced, cholinergic neurotransmission in the development of addiction and in the persistent physiological processes that drive this maladaptive behavior has not been widely investigated. The major cholinergic input to neurons in the midbrain which are instrumental in assessment of reward and assignment of salience to stimuli, including drugs of abuse, sources from acetylcholine- (ACh-) containing pontine neurons of the laterodorsal tegmentum (LDT). Excitatory LDT input, likely cholinergic, is critical in allowing behaviorally relevant neuronal firing patterns within midbrain reward circuitry. Via this control, the LDT is positioned to be importantly involved in development of compulsive, addictive patterns of behavior. The goal of this review is to present the anatomical, physiological, and behavioral evidence suggesting a role of the LDT in the neurobiology underlying addiction to drugs of abuse. Although focus is directed on the evidence supporting a vital participation of the cholinergic neurons of the LDT, data indicating a contribution of noncholinergic LDT neurons to processes underlying addiction are also reviewed. While sparse, available information of actions of drugs of abuse on LDT cells and the output of these neurons as well as their influence on addiction-related behavior are also presented. Taken together, data from studies presented in this review strongly support the position that the LDT is a major player in the neurobiology of drug addiction. Accordingly, the LDT may serve as a future treatment target for efficacious pharmaceutical combat of drug addiction.

  1. The transcription factor Olig2 is important for the biology of diffuse intrinsic pontine gliomas.

    Science.gov (United States)

    Anderson, Jane L; Muraleedharan, Ranjithmenon; Oatman, Nicole; Klotter, Amanda; Sengupta, Satarupa; Waclaw, Ronald R; Wu, Jianqiang; Drissi, Rachid; Miles, Lili; Raabe, Eric H; Weirauch, Matthew L; Fouladi, Maryam; Chow, Lionel M; Hoffman, Lindsey; DeWire, Mariko; Dasgupta, Biplab

    2017-08-01

    Diffuse intrinsic pontine glioma (DIPG) is a high-grade brainstem glioma of children with dismal prognosis. There is no single unifying model about the cell of origin of DIPGs. Proliferating cells in the developing human and mouse pons, the site of DIPGs, express neural stem/progenitor cell (NPC) markers, including Sox2, nestin, vimentin, Olig2, and glial fibrillary acidic protein, in an overlapping and non-overlapping manner, suggesting progenitor cell heterogeneity in the pons. It is thought that during a restricted window of postnatal pons development, a differentiation block caused by genetic/epigenetic changes leads to unrestrained progenitor proliferation and DIPG development. Nearly 80% of DIPGs harbor a mutation in the H3F3A or the related HIST1H3B gene. Supporting the impaired differentiation model, NPCs derived from human induced pluripotent stem cells expressing the H3F3A mutation showed complete differentiation block. However, the mechanisms regulating an altered differentiation program in DIPG are unknown. We established syngeneic serum-dependent and independent primary DIPG lines, performed molecular characterization of DIPG lines in vitro and in an orthotopic xenograft model, and used small hairpin RNA to examine Olig2 function in DIPG. The transcription factor Olig2 is highly expressed in 70%-80% of DIPGs. Here we report that Olig2 expression and DIPG differentiation are mutually exclusive events in vitro, and only DIPG cells that retained Olig2 in vitro formed robust Olig2-positive brainstem glioma with 100% penetrance in a xenograft model. Our results indicate Olig2 as an onco-requisite factor in DIPG and propose investigation of Olig2 target genes as novel candidates in DIPG therapy. © The Author(s) 2017. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  2. Single- and Multivoxel Proton Spectroscopy in Pediatric Patients With Diffuse Intrinsic Pontine Glioma

    Energy Technology Data Exchange (ETDEWEB)

    Steffen-Smith, Emilie A. [Pediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland (United States); Venzon, David J. [Biostatistics and Data Management Section, National Cancer Institute, National Institutes of Health, Bethesda, Maryland (United States); Bent, Robyn S. [Pediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland (United States); Hipp, Sean J. [Pediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland (United States); Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland (United States); Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland (United States); Warren, Katherine E., E-mail: warrenk@mail.nih.gov [Pediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland (United States)

    2012-11-01

    Purpose: To determine the feasibility of two magnetic resonance spectroscopy (MRS) techniques for treating pediatric patients with diffuse intrinsic pontine gliomas (DIPGs) and to evaluate the relationship of metabolic profiles determined by each technique. Utility of each technique for improving patient management is also discussed. Methods and Materials: Children with DIPG (n = 36) were evaluated using single-voxel spectroscopy (SVS) and magnetic resonance spectroscopic imaging (MRSI) during the same imaging session. Patients were followed longitudinally (n = 150 total studies). Technical feasibility was defined by sufficient water and lipid suppression for detection of metabolites. Correlation of metabolic data obtained by SVS and MRSI was determined using the Spearman rank method. Metabolite ratios, including choline:N-acetyl-aspartate (Cho:NAA) and Cho:creatine (Cho:Cr), were obtained from SVS and MRSI. Results: SVS and MRSI acquisitions were feasible in >90% of studies. Maximum Cho:NAA and Cho:Cr from MRSI analysis were strongly associated with Cho:NAA and Cho:Cr obtained by SVS (r = 0.67 and 0.76, respectively). MRSI Cho:NAA values were more heterogeneous than Cho:Cr values within the same lesion, and a strong linear relationship between the range and maximum Cho:NAA values was observed. Conclusions: SVS and MRSI acquisitions were feasible, with a strong correlation in metabolic data. Both techniques may improve diagnostic evaluation and management of DIPG. SVS is recommended for global assessment of tumor metabolism before and after therapy. MRSI showed heterogeneous patterns of metabolic activity within these tumors and is recommended for planning and monitoring targeted therapies and evaluating nearby tissue for tumor invasion.

  3. CT and MRI characteristica of tumours of the temporal bone and the cerebello-pontine angle

    International Nuclear Information System (INIS)

    Imhof, H.; Henk, C.B.; Dirisamer, A.; Czerny, C.; Gstoettner, W.

    2003-01-01

    Tumours lesions of the temporal bone and of the cerebello-pontine angle are rare.This tumours can be separated into benign and malignant lesions. In this paper the CT and MRI characteristica of tumours of the temporal bone and the cerebello-pontane angle will be demonstrated. High resolution CT (HRCT) as usually performed in the axial plane are using a high resolution bone window level setting, coronal planes are the reconstructed from the axial data set or will be obtained directly. With the MRI FLAIR sequence in the axial plane the whole brain will be scanned either to depict or exclude a tumour invasion into the brain. After this,T2-weighted fast spin echo sequences or fatsuppressed inversion recovery sequences in high resolution technique in the axial plane will be obtained from the temporal bone and axial T1-weighted spinecho sequences before and after the intravenous application of contrast material will be obtained of this region. Finally T1-weighted spinecho sequences in high resolution technique with fatsuppression after the intravenous application of contrast material will be performed in the coronal plane. HRCT and MRI are both used to depict the most exact tumorous borders. HRCT excellently depicts the osseous changes for example exostosis of the external auditory canal, while also with HRCT osseous changes maybe characterized into more benign or malignant types. MRI has a very high soft tissue contrast and may therefore either characterize vascular space-occupying lesions for example glomus jugulare tumours or may differentiate between more benign or malignant lesions. In conclusion HRCT and MRI of the temporal bone are excellent methods to depict and mostly characterize tumour lesions and can help to differentiate between benign and malignant lesion. These imaging methods shall be used complementary and may have a great impact for the therapeutic planning. (orig.) [de

  4. Effective Drug Delivery in Diffuse Intrinsic Pontine Glioma: A Theoretical Model to Identify Potential Candidates

    Directory of Open Access Journals (Sweden)

    Fatma E. El-Khouly

    2017-10-01

    Full Text Available Despite decades of clinical trials for diffuse intrinsic pontine glioma (DIPG, patient survival does not exceed 10% at two years post-diagnosis. Lack of benefit from systemic chemotherapy may be attributed to an intact bloodbrain barrier (BBB. We aim to develop a theoretical model including relevant physicochemical properties in order to review whether applied chemotherapeutics are suitable for passive diffusion through an intact BBB or whether local administration via convection-enhanced delivery (CED may increase their therapeutic potential. Physicochemical properties (lipophilicity, molecular weight, and charge in physiological environment of anticancer drugs historically and currently administered to DIPG patients, that affect passive diffusion over the BBB, were included in the model. Subsequently, the likelihood of BBB passage of these drugs was ascertained, as well as their potential for intratumoral administration via CED. As only non-molecularly charged, lipophilic, and relatively small sized drugs are likely to passively diffuse through the BBB, out of 51 drugs modeled, only 8 (15%—carmustine, lomustine, erlotinib, vismodegib, lenalomide, thalidomide, vorinostat, and mebendazole—are theoretically qualified for systemic administration in DIPG. Local administration via CED might create more therapeutic options, excluding only positively charged drugs and drugs that are either prodrugs and/or only available as oral formulation. A wide variety of drugs have been administered systemically to DIPG patients. Our model shows that only few are likely to penetrate the BBB via passive diffusion, which may partly explain the lack of efficacy. Drug distribution via CED is less dependent on physicochemical properties and may increase the therapeutic options for DIPG.

  5. Incontinência do choro e infarto protuberancial unilateral Incontinence of crying and unilateral pontine infarct

    Directory of Open Access Journals (Sweden)

    Ricardo de Oliveira-Souza

    1995-09-01

    Full Text Available O presente estudo trata do caso de um paciente que apresentou incontinência do choro e hemiplegia direita por infarto ventroprotuberancial paramediano detectado pela RNM. O caráter circunscrito da lesão foi endossado pela normalidade dos potenciais evocados sômato-sensitivos e auditivos de curta-latência. Os episódios de choro desapareceram poucos dias depois do início do tratamento com doses baixas de imipramina. Discutimos o choro e riso patológicos como forma de incontinência da mímica resultante de desconexão límbico-motora, enfatizando a impropriedade de incluí-los na síndrome pseudobulbar, uma vez que dependem de correlatos anatômicos e funcionais distintos.A 64-year-old man presented with pathologic crying and right hemiplegia due to a unilateral pontine infarct from probable branch disease of the basilar artery. The circumscribed nature of the lesion was supported by MRI and short-latency evoked potentials. The weeping spells ceased after a few days of imipramine in low doses. Pathologic laughing and crying can be viewed as a limbic-motor disconnection syndrome, in which the faciovocal motor system is released from forebrain afferents carrying information of emotional content. The inclusion of pathologic laughing and crying in the syndrome pseudobulbar palsy is inaccurate and misleading, since each is related to distinct functional and anatomic systems intrinsic to the human brainstem.

  6. Reproducibility of right-to-left shunt quantification using transthoracic contrast echocardiography in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Vorselaars, V M M; Velthuis, S; Huitema, M P; Hosman, A E; Westermann, C J J; Snijder, R J; Mager, J J; Post, M C

    2018-04-01

    Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary arteriovenous malformations (PAVMs) in hereditary haemorrhagic telangiectasia. Shunt quantification is used to find treatable PAVMs. So far, there has been no study investigating the reproducibility of this diagnostic test. Therefore, this study aimed to describe inter-observer and inter-injection variability of TTCE. We conducted a prospective single centre study. We included all consecutive persons screened for presence of PAVMs in association with hereditary haemorrhagic telangiectasia in 2015. The videos of two contrast injections per patient were divided and reviewed by two cardiologists blinded for patient data. Pulmonary right-to-left shunts were graded using a three-grade scale. Inter-observer and inter-injection agreement was calculated with κ statistics for the presence and grade of pulmonary right-to-left shunts. We included 107 persons (accounting for 214 injections) (49.5% male, mean age 45.0 ± 16.6 years). A pulmonary right-to-left shunt was present in 136 (63.6%) and 131 (61.2%) injections for observer 1 and 2, respectively. Inter-injection agreement for the presence of pulmonary right-to-left shunts was 0.96 (95% confidence interval (CI) 0.9-1.0) and 0.98 (95% CI 0.94-1.00) for observer 1 and 2, respectively. Inter-injection agreement for pulmonary right-to-left shunt grade was 0.96 (95% CI 0.93-0.99) and 0.95 (95% CI 0.92-0.98) respectively. There was disagreement in right-to-left shunt grade between the contrast injections in 11 patients (10.3%). Inter-observer variability for presence and grade of the pulmonary right-to-left shunt was 0.95 (95% CI 0.91-0.99) and 0.97 (95% CI 0.95-0.99) respectively. TTCE has an excellent inter-injection and inter-observer agreement for both the presence and grade of pulmonary right-to-left shunts.

  7. Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

    Directory of Open Access Journals (Sweden)

    Bassam R Ali

    Full Text Available Hereditary haemorrhagic telangiectasia (HHT is an autosomal dominant genetic condition affecting the vascular system and is characterised by epistaxis, arteriovenous malformations and mucocutaneous and gastrointestinal telangiectases. This disorder affects approximately 1 in 8,000 people worldwide. Significant morbidity is associated with this condition in affected individuals, and anaemia can be a consequence of repeated haemorrhages from telangiectasia in the gut and nose. In the majority of the cases reported, the condition is caused by mutations in either ACVRL1 or endoglin genes, which encode components of the TGF-beta signalling pathway. Numerous missense mutations in endoglin have been reported as causative defects for HHT but the exact underlying cellular mechanisms caused by these mutations have not been fully established despite data supporting a role for the endoplasmic reticulum (ER quality control machinery. For this reason, we examined the subcellular trafficking of twenty-five endoglin disease-causing missense mutations. The mutant proteins were expressed in HeLa and HEK293 cell lines, and their subcellular localizations were established by confocal fluorescence microscopy alongside the analysis of their N-glycosylation profiles. ER quality control was found to be responsible in eight (L32R, V49F, C53R, V125D, A160D, P165L, I271N and A308D out of eleven mutants located on the orphan extracellular domain in addition to two (C363Y and C382W out of thirteen mutants in the Zona Pellucida (ZP domain. In addition, a single intracellular domain missense mutant was examined and found to traffic predominantly to the plasma membrane. These findings support the notion of the involvement of the ER's quality control in the mechanism of a significant number, but not all, missense endoglin mutants found in HHT type 1 patients. Other mechanisms including loss of interactions with signalling partners as well as adverse effects on functional

  8. Mixed Capillary Venous Retroperitoneal Hemangioma

    Directory of Open Access Journals (Sweden)

    Mohit Godar

    2013-01-01

    Full Text Available We report a case of mixed capillary venous hemangioma of the retroperitoneum in a 61-year-old man. Abdominal ultrasonography showed a mass to be hypoechoic with increased flow in color Doppler imaging. Dynamic contrast-enhanced computed tomography revealed a centripetal filling-in of the mass, located anterior to the left psoas muscle at the level of sacroiliac joint. On the basis of imaging features, preoperative diagnosis of hemangioma was considered and the mass was excised by laparoscopic method. Immunohistochemical studies were strongly positive for CD31 and CD34, and negative for calretinin, EMA, WT1, HMB45, Ki67, synaptophysin, and lymphatic endothelial cell marker D2–40. Histologically, the neoplasm was diagnosed as mixed capillary venous hemangioma.

  9. Capillary waves with surface viscosity

    Science.gov (United States)

    Shen, Li; Denner, Fabian; Morgan, Neal; van Wachem, Berend; Dini, Daniele

    2017-11-01

    Experiments over the last 50 years have suggested a correlation between the surface (shear) viscosity and the stability of a foam or emulsion. With recent techniques allowing more accurate measurements of the elusive surface viscosity, we examine this link theoretically using small-amplitude capillary waves in the presence of the Marangoni effect and surface viscosity modelled via the Boussinesq-Scriven model. The surface viscosity effect is found to contribute a damping effect on the amplitude of the capillary wave with subtle differences to the effect of the convective-diffusive Marangoni transport. The general wave dispersion is augmented to take into account the Marangoni and surface viscosity effects, and a first-order correction to the critical damping wavelength is derived. The authors acknowledge the financial support of the Shell University Technology Centre for fuels and lubricants.

  10. Capillary Refill using Augmented Reality

    OpenAIRE

    Clausen, Christoffer

    2017-01-01

    Master's thesis in Computer science The opportunities within augmented reality is growing. Augmented reality is a combination of the real and the virtual world in real time, and large companies like Microsoft and Google is now investing heavily in the technology. This thesis presents a solution for simulating a medical test called capillary refill, by using augmented reality. The simulation is performed with an augmented reality headset called HoloLens. The HoloLens will recognise a mark...

  11. Capillary electrophoresis systems and methods

    Science.gov (United States)

    Dorairaj, Rathissh [Hillsboro, OR; Keynton, Robert S [Louisville, KY; Roussel, Thomas J [Louisville, KY; Crain, Mark M [Georgetown, IN; Jackson, Douglas J [New Albany, IN; Walsh, Kevin M [Louisville, KY; Naber, John F [Goshen, KY; Baldwin, Richard P [Louisville, KY; Franco, Danielle B [Mount Washington, KY

    2011-08-02

    An embodiment of the invention is directed to a capillary electrophoresis apparatus comprising a plurality of separation micro-channels. A sample loading channel communicates with each of the plurality of separation channels. A driver circuit comprising a plurality of electrodes is configured to induce an electric field across each of the plurality of separation channels sufficient to cause analytes in the samples to migrate along each of the channels. The system further comprises a plurality of detectors configured to detect the analytes.

  12. Capillaries modified by noncovalent anionic polymer adsorption for capillary zone electrophoresis, micellar electrokinetic capillary chromatography and capillary electrophoresis mass spectrometry

    DEFF Research Database (Denmark)

    Bendahl, L; Hansen, S H; Gammelgaard, Bente

    2001-01-01

    A simple coating procedure for generation of a high and pH-independent electroosmotic flow in capillary zone electrophoresis (CZE) and micellar electrokinetic capillary chromatography (MEKC) is described. The bilayer coating was formed by noncovalent adsorption of the ionic polymers Polybrene...... capillaries was (4.9+/-0.1) x 10(-4) cm2V(-1)s(-1) in a pH-range of 2-10 (ionic strength = 30 mM). When alkaline compounds were used as test substances intracapillary and intercapillary migration time variations (n = 6) were less than 1% relative standard deviation (RSD) and 2% RSD, respectively in the entire...... pH range. The coating was fairly stable in the presence of sodium dodecyl sulfate, and this made it possible to perform fast MEKC separations at low pH. When neutral compounds were used as test substances, the intracapillary migration time variations (n = 6) were less than 2% RSD in a pH range of 2...

  13. Effect of caffeine on γ-ray induced G2 delay in ataxia telangiectasia

    International Nuclear Information System (INIS)

    Bates, P.R.; Lavin, M.F.

    1985-01-01

    Exposure of normal control and ataxia-telangiectasia (A-T) lymphoblastoid cell lines to ionizing radiation gives rise to an increase in the proportion of G2 phase cells. The size and extent of the G2 phase block is greater in A-T cells than in normal cells. Caffeine has a similar overall effect in control and A-T cell lines in reducing the G2 arrest observed after ionizing radiation. While the proportion of cells accumulated in G2 in A-T cells is considerably greater than in controls, addition of caffeine at the time of maximal G2 block brings about a return of G2 phase cell numbers to unirradiated values in 3 hours in both cell types. In normal control cells the caffeine-mediated decrease in G2 cells is reflected by an increase in mitotic cells. These mitotic cells have a higher frequency of chromosome aberrations compared to cells harvested in the absence of caffeine. Similarly in A-T cells addition of caffeine to irradiated cultures, delayed in G2 phase, increased the number of mitotic cells and the frequency of chromosome aberrations. (author)

  14. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study

    International Nuclear Information System (INIS)

    Tamimi, Rulla M; Hankinson, Susan E; Spiegelman, Donna; Kraft, Peter; Colditz, Graham A; Hunter, David J

    2004-01-01

    The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of the haplotype diversity in Caucasian populations. We conducted a nested case–control study of breast cancer within the Nurses' Health Study cohort to address the role of common ATM haplotypes and breast cancer. Cases and controls were genotyped for five haplotype tagging single nucleotide polymorphisms. Haplotypes were predicted for 1309 cases and 1761 controls for which genotype information was available. Six unique haplotypes were predicted in this study, five of which occur at a frequency of 5% or greater. The overall distribution of haplotypes was not significantly different between cases and controls (χ 2 = 3.43, five degrees of freedom, P = 0.63). There was no evidence that common haplotypes of ATM are associated with breast cancer risk. Extensive single nucleotide polymorphism detection using the entire genomic sequence of ATM will be necessary to rule out less common variation in ATM and sporadic breast cancer risk

  15. Ultrastructural and clinical evidence of subretinal debris accumulation in type 2 macular telangiectasia.

    Science.gov (United States)

    Cherepanoff, Svetlana; Killingsworth, Murray C; Zhu, Meidong; Nolan, Timothy; Hunyor, Alex P; Young, Stephanie H; Hageman, Gregory S; Gillies, Mark C

    2012-11-01

    To describe subretinal debris found on ultrastructural examination in an eye with macular telangiectasia (MacTel) type 2 and on optical coherence tomography (OCT) in a subset of patients with MacTel type 2. Blocks from the mid-periphery and temporal perifovea of an eye with clinically documented MacTel type 2 were examined with electron microscopy (EM). Cases came from the Sydney centre of the MacTel project and the practices of the authors. On EM examination, subretinal debris was found in the perifovea with accumulation of degenerate photoreceptor elements in the subretinal space. Despite the substantial subretinal debris, there was minimal retinal pigment epithelial (RPE) reaction. Focal defects were seen in the inner limiting membrane in the perifovea. Of the 65 Sydney MacTel project participants, three (5%) had prominent yellow material at the fovea. OCT revealed smooth mounds between the RPE and the ellipsoid region. The material was hyperautofluorescent. This study suggests that subretinal accumulation of photoreceptor debris may be a feature of MacTel type 2. Ultrastructural and OCT evidence of disease beyond the vasculature, involving photoreceptors and Muller cells, is presented.

  16. Radiation-induced chromosome aberrations and cell killing in normal human fibroblasts and ataxia telangiectasia fibroblasts

    International Nuclear Information System (INIS)

    Kawata, T.; Saito, M.; Uno, T.; Ito, H.; Shigematsu, N.

    2003-01-01

    Full text: When cells are held in a non-dividing state (G0) after irradiation, an enhanced survival can be observed compared to that of immediate plating. A change of survival depending on post irradiation condition is known to be repair of potentially lethal damage (RPLD). The effects of confluent holding recovery (24-h incubation following irradiation) on chromosome aberrations in normal human fibroblasts (AG1522) and ataxia telangiectasia fibroblasts (GM02052C) were examined. A chemical-induced premature chromosome condensation (PCC) technique with fluorescent in situ hybridization (FISH) was applied to study chromosome aberrations in G2 and M-phase. Results from cell survival showed that the capacity for potentially lethal damage repair was normal in AG1522 cells but very little in GM02052C cells. The frequency of chromosome aberrations in AG1522 cells decreased when cells were allowed to repair for 24-h. Especially complex type exchanges were found to decrease markedly at high doses (4Gy and 6Gy). However, the frequency of chromosome aberrations including complex type exchanges showed little decrease in GM02052C cells. Confluent holding can effectively reduce chromosome aberrations, especially complex type exchanges in normal cells

  17. Impaired recovery and mutagenic SOS-like responses in ataxia telangiectasia cells

    Energy Technology Data Exchange (ETDEWEB)

    Hilgers, G. (Universite Libre de Bruxelles (Belgium) Rijksuniversiteit Leiden (Netherlands)); Abrahams, P.J. (Rijksuniversiteit Leiden (Netherlands)); Chen, Y.Q. (Universite Libre de Bruxelles (Belgium)); Schouten, R. (Rijksuniversiteit Leiden (Netherlands)); Cornelis, J.J. (Universite Libre de Bruxelles (Belgium) Institut Pasteur, 75 - Paris (France)); Lowe, J.E. (Sussex Univ., Brighton (UK)); Eb, A.J. van der (Rijksuniversiteit Leiden (Netherlands)); Rommelaere, J. (Universite Libre de Bruxelles (Belgium) Institut Pasteur, 75 - Paris (France))

    1989-01-01

    Radiosensitive fibroblasts from patients with ataxia telangiectasia (AT) were studied for their proficiency in two putative eukaryotic SOS-like responses, namely the enhanced reactivation (ER) and enhanced mutagenesis of damaged viruses infecting pre-irradiated versus mock-treated cells. A previous report indicated that, unlike normal human cells, a line of AT fibroblasts (AT5BIVA) could not be induced to express ER of damaged parvovirus H-1, a single-stranded DNA virus, by UV- or X-irradiation. In the present study, AT5BIVA fibroblasts were also distinguished from normal cells by the inability of the former to achieve enhanced mutagenesis of damaged H-1 virus upon cell UV-irradiation. In contrast, dose-response and time-course experiments revealed normal levels of ER of Herpes simplex virus 1, a double-stranded DNA virus, in X- or UV-irradiated AT5BIVA cells. Taken together, these data point to a possible deficiency of AT cells in a conditioned mutagenic process that contributes to a greater extent to the recovery of damaged single-stranded than double-stranded DNA. Such a defect may concern the replication of damaged DNA or the generation of signals promoting the latter process and may be related to the lack of radiation-induced delay that is typical of AT cell DNA synthesis. (author).

  18. Impaired recovery and mutagenic SOS-like responses in ataxia telangiectasia cells

    International Nuclear Information System (INIS)

    Hilgers, G.; Abrahams, P.J.; Chen, Y.Q.; Schouten, R.; Cornelis, J.J.; Lowe, J.E.; Eb, A.J. van der; Rommelaere, J.

    1989-01-01

    Radiosensitive fibroblasts from patients with ataxia telangiectasia (AT) were studied for their proficiency in two putative eukaryotic SOS-like responses, namely the enhanced reactivation (ER) and enhanced mutagenesis of damaged viruses infecting pre-irradiated versus mock-treated cells. A previous report indicated that, unlike normal human cells, a line of AT fibroblasts (AT5BIVA) could not be induced to express ER of damaged parvovirus H-1, a single-stranded DNA virus, by UV- or X-irradiation. In the present study, AT5BIVA fibroblasts were also distinguished from normal cells by the inability of the former to achieve enhanced mutagenesis of damaged H-1 virus upon cell UV-irradiation. In contrast, dose-response and time-course experiments revealed normal levels of ER of Herpes simplex virus 1, a double-stranded DNA virus, in X- or UV-irradiated AT5BIVA cells. Taken together, these data point to a possible deficiency of AT cells in a conditioned mutagenic process that contributes to a greater extent to the recovery of damaged single-stranded than double-stranded DNA. Such a defect may concern the replication of damaged DNA or the generation of signals promoting the latter process and may be related to the lack of radiation-induced delay that is typical of AT cell DNA synthesis. (author)

  19. Effects of hyperthermia and ionizing radiation in normal and ataxia telangiectasia human fibroblast lines

    International Nuclear Information System (INIS)

    Mitchel, R.E.J.; Chan, A.; Smith, B.P.; Child, S.D.; Paterson, M.C.

    1984-01-01

    The effects of 45 0 C hyperthermia and γ radiation have been studied in three normal human fibroblast lines (GM38, GM730, WI38) and compared to the effects in two lines derived from patients with the hereditary disease ataxia telangiectasia (AR3BI, AT5BI). All lines, both normal and γ-sensitive AT, showed a similar resistance to killing by heat alone, suggesting that the defect responsible for the increased radiation sensitivity in AT lines does not confer increased heat sensitivity. Shouldered survival curves were obtained in each case indicating the ability to accumulate sublethal heat damage. All normal and AT cell lines exhibited increased resistance to the lethal effects of heat in response to a thermal stress, indicating that the defect that causes radiosensitivity in AT cell lines does not prevent the induction of thermotolerance. It was hypothesized that in normal cells, this heat treatment inactivates the process which is already defective in AT lines, and that this process may be required for the proper rejoining of double-strand breaks produced during the repair of other radiation-induced lesions

  20. Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.

    Science.gov (United States)

    Geirdal, Amy Østertun; Dheyauldeen, Sinan; Bachmann-Harildstad, Gregor; Heimdal, Ketil

    2013-02-01

    The purpose of this study was to examine the relationship between coping strategies measured by Coping Orientation to Problems Experienced Scale (COPE) and psychological distress measured by Hospital Anxiety and Depression Scale (HADS) and Becks Hopelessness Scale (BHS) in individuals living with Hereditary hemorrhagic telangiectasia (HHT) and to examine if coping strategies might have a mediating role between experienced illness and psychological distress. HHT is mainly caused by mutations in the ENG- or ALK1-genes and associated with a shorter life span. 90% of patients have recurrent nosebleeds. 66 individuals affected of HHT participated in this cross-sectional study, completing questions due to demographic variables, Experience of illness, COPE, BHS and HADS. X(2) test, bivariate correlations with Pearson r and hierarchical multiple regression were used using PASW 18. Experience of illness made the highest variance in anxiety, depression and hopelessness and the coping strategy "behavioral disengagement" seems to have a mediating role between nose bleedings, being afraid of complications, satisfied with life and psychological distress. Experience of illness is of big importance in psychological distress in individuals affected of HHT, and behavioral disengagement explained the actual relationship between experience of illness and psychological distress.

  1. Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation.

    Science.gov (United States)

    Lin, Zi-Li; Kim, Nam-Hyung

    2015-06-01

    Ataxia-telangiectasia mutated (ATM) is critical for the DNA damage response, cell cycle checkpoints, and apoptosis. Significant effort has focused on elucidating the relationship between ATM and other nuclear signal transducers; however, little is known about the connection between ATM and oocyte meiotic maturation. We investigated the function of ATM in porcine oocytes. ATM was expressed at all stages of oocyte maturation and localized predominantly in the nucleus. Furthermore, the ATM-specific inhibitor KU-55933 blocked porcine oocyte maturation, reducing the percentages of oocytes that underwent germinal vesicle breakdown (GVBD) and first polar body extrusion. KU-55933 also decreased the expression of DNA damage-related genes (breast cancer 1, budding uninhibited by benzimidazoles 1, and P53) and reduced the mRNA and protein levels of AKT and other cell cycle-regulated genes that are predominantly expressed during G2/M phase, including bone morphogenetic protein 15, growth differentiation factor 9, cell division cycle protein 2, cyclinB1, and AKT. KU-55933 treatment decreased the developmental potential of blastocysts following parthenogenetic activation and increased the level of apoptosis. Together, these data suggested that ATM influenced the meiotic and cytoplasmic maturation of porcine oocytes, potentially by decreasing their sensitivity to DNA strand breaks, stimulating the AKT pathway, and/or altering the expression of other maternal genes. © 2015 International Federation for Cell Biology.

  2. The role of the neuro-astro-vascular unit in the etiology of Ataxia Telangiectasia

    Directory of Open Access Journals (Sweden)

    Leenoy eMeshulam

    2012-09-01

    Full Text Available The growing recognition that brain pathologies do not affect neurons only but rather are, to a large extent, pathologies of glial cells as well as of the vasculature opens to new perspectives in our understanding of genetic disorders of the CNS. To validate the role of the neuron-glial-vascular unit in the etiology of genome instability disorders, we report about cell death and morphological aspects of neuro-glia networks and the associated vasculature in a mouse model of Ataxia Telangiectasia (A-T, a human genetic disorder that induces severe motor impairment. We found that AT-mutated protein deficiency was consistent with aberrant astrocytic morphology and alterations of the vasculature, often accompanied by reactive gliosis. Interestingly similar findings could also be reported in the case of other genetic disorders. These observations bolster the notion that astrocyte-specific pathologies, hampered vascularization and astrocyte-endothelium interactions in the CNS could play a crucial role in the etiology of genome instability brain disorders and could underlie neurodegeneration.

  3. NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.

    Science.gov (United States)

    Fang, Evandro Fei; Kassahun, Henok; Croteau, Deborah L; Scheibye-Knudsen, Morten; Marosi, Krisztina; Lu, Huiming; Shamanna, Raghavendra A; Kalyanasundaram, Sumana; Bollineni, Ravi Chand; Wilson, Mark A; Iser, Wendy B; Wollman, Bradley N; Morevati, Marya; Li, Jun; Kerr, Jesse S; Lu, Qiping; Waltz, Tyler B; Tian, Jane; Sinclair, David A; Mattson, Mark P; Nilsen, Hilde; Bohr, Vilhelm A

    2016-10-11

    Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive neurodegeneration and cerebellar ataxia. A-T is causally linked to defects in ATM, a master regulator of the response to and repair of DNA double-strand breaks. The molecular basis of cerebellar atrophy and neurodegeneration in A-T patients is unclear. Here we report and examine the significance of increased PARylation, low NAD + , and mitochondrial dysfunction in ATM-deficient neurons, mice, and worms. Treatments that replenish intracellular NAD + reduce the severity of A-T neuropathology, normalize neuromuscular function, delay memory loss, and extend lifespan in both animal models. Mechanistically, treatments that increase intracellular NAD + also stimulate neuronal DNA repair and improve mitochondrial quality via mitophagy. This work links two major theories on aging, DNA damage accumulation, and mitochondrial dysfunction through nuclear DNA damage-induced nuclear-mitochondrial signaling, and demonstrates that they are important pathophysiological determinants in premature aging of A-T, pointing to therapeutic interventions. Published by Elsevier Inc.

  4. Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Correlations between computed tomography findings and cerebral complications

    Energy Technology Data Exchange (ETDEWEB)

    Etievant, Johan; Si-Mohamed, Salim; Vinurel, Nicolas; Revel, Didier [Hospices Civils de Lyon, Hopital Cardiologique Louis Pradel, Departement d' Imagerie Cardiaque et Thoracique, Diagnostique et Interventionnelle, Bron (France); Universite Claude Bernard Lyon 1, Villeurbanne (France); Dupuis-Girod, Sophie [Hospices Civils de Lyon, Hopital Femme-Mere-Enfant, Service de Genetique, Centre de Reference pour la maladie de Rendu-Osler, Lyon (France); Decullier, Evelyne [Universite Claude Bernard Lyon 1, Villeurbanne (France); Hospices Civils de Lyon, Pole Information Medicale Evaluation Recherche, Lyon (France); Gamondes, Delphine [Hospices Civils de Lyon, Hopital Cardiologique Louis Pradel, Departement d' Imagerie Cardiaque et Thoracique, Diagnostique et Interventionnelle, Bron (France); Khouatra, Chahera [Hospices Civils de Lyon, Hopital Cardiologique Louis Pradel, Service de pneumologie - Centre des Maladies Orphelines Pulmonaires, Lyon (France); Cottin, Vincent [Universite Claude Bernard Lyon 1, Villeurbanne (France); Hospices Civils de Lyon, Hopital Cardiologique Louis Pradel, Service de pneumologie - Centre des Maladies Orphelines Pulmonaires, Lyon (France)

    2018-03-15

    Computed tomography (CT) is the modality of choice to characterise pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). Our objective was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. This retrospective study included patients with HHT-related PAVMs. CT results, i.e. PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess. All CTs were reviewed in consensus by two radiologists. Of 170 patients, 73 patients had unique (42.9 %), 49 multiple (28.8 %), 36 disseminated (21.2 %) and 12 diffuse (7.1 %) PAVMs. Fifteen patients presented with brain abscess; 26 patients presented with ischaemic stroke. The number of PAVMs was significantly correlated with brain abscess (11.5 vs. 6.2, respectively; p=0.025). The mean diameter of the largest feeding artery was significantly correlated with ischaemic stroke frequency (4.9 vs. 3.2 mm, respectively; p=0.0098). The number of PAVMs correlated significantly with risk of brain abscess, and a larger feeding artery significantly with more ischaemic strokes. These findings can lead to a better recognition and management of the PAVMs at risk of cerebral complications. (orig.)

  5. Identification of 4 ataxia telangiectasia cell lines hypersensitive to. gamma. -irradiation but not to hydrogen peroxide

    Energy Technology Data Exchange (ETDEWEB)

    Cantoni, O.; Sestili, P.; Santoro, M.P.; Tannoia, M.C.; Cattabeni, F. (Universita degli Studi di Urbino (Italy). Istituto di Farmacologia e Farmacognosia and Centro di Farmacologia Oncologia Sperimentale); Novelli, G.; Dallapiccola, B. (Universit degli Studi di Urbino (Italy). Cattedra di Genetica); Fiorilli, M. (Universita di Roma ' La Sapienze' (Italy). Cattedra di Allergologia e Immunologia Clinica)

    1989-09-01

    The effct of hydrogen peroxide on the rate of semi-conservative DNA synthesis in ataxia telangiectasia (AT) and normal human lymphoblastoid cells was investigated. The rate of DNA synthesis in AT cells was not depressed to a lesser extent than in normal cells, as might have been expected since H{sub 2O2} is a radiomimetic agent. On the contrary, 4 AT cell lines displayed a higher sensitivity to the inhibitory effect of H{sub 2O2} on DNA synthesis than 2 normal cell lines. Comparable levels of cytotoxicity were detected in cell vaibility studies. Furthermore, neither the level of DNA breakage produced by H{sub 2O2}, nor the rate of repair of these lesions was signigicantly different in normal and AT cells. Together, these results indicate that the AT cell lines utilized in this study are not hypersensitive to the oxidant. It is suggested that H-2-O-2 may not induce lethality via the direct ation of the hydroxyl radical (OH). (Author). 20 refs.; 3 figs.; 1 tab.

  6. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

    Science.gov (United States)

    Janin, N; Andrieu, N; Ossian, K; Laugé, A; Croquette, M-F; Griscelli, C; Debré, M; Bressac-de-Paillerets, B; Aurias, A; Stoppa-Lyonnet, D

    1999-01-01

    Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age ≤ 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age ≥ 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC. © 1999 Cancer Research Campaign PMID:10362113

  7. Nasal closure for the treatment of epistaxis secondary to hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Sena Esteves, Sara; Cardoso, Carla; Silva, Ana; Abrunhosa, José; Almeida E Sousa, Cecília

    Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterised by the presence of multiple arteriovenous malformations (AVMs) affecting multiple organs. Many procedures have been used for epistaxis control in patients with this disorder. The objective of this study was to report the treatment of severe HHT-related epistaxiswith the modified Young's procedure. We describe the treatment of 4 patients with severe blood-transfusion-dependent epistaxis who underwent a modified Young's procedure in a tertiary hospital. The nasal closure was bilateral and complete in all cases. All patients were followed for 12 months or longer. The procedure was well tolerated and complete cessation of bleeding was achieved in all the patients. Young's technique is a safe surgical procedure, well tolerated by patients with severe epistaxis and HHT. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  8. Prospective randomized trial of sclerotherapy vs standard treatment for epistaxis due to hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Boyer, Holly; Fernandes, Patricia; Le, Chap; Yueh, Bevan

    2015-05-01

    Our previous studies have demonstrated the tolerability and low side-effect profile of office-based sclerotherapy with sodium tetradecyl sulfate (STS) for treating recurrent epistaxis due to hereditary hemorrhagic telangiectasia (HHT). The objective of this study was to use a prospective randomized trial to determine the effectiveness of sclerotherapy with STS vs standard treatment. This prospective randomized trial (conducted from November 1, 2011, through January 31, 2014) involved 17 patients with recurrent epistaxis due to HHT. We defined standard treatment as continuation of any treatment that the patient had previously undergone, such as moisturization, packing, and cautery. We used a crossover design, so study participants were randomized to either sclerotherapy or standard treatment during the first time period, and then to the other during the second period. The primary outcome measure was frequency and severity of epistaxis, as measured by the epistaxis severity score (ESS). The ESS is a 10-point scale, with higher scores corresponding to more bleeding. After controlling for treatment order, bleeding was substantially better controlled after sclerotherapy; the ESS after sclerotherapy was nearly one point lower than after standard treatment (-0.95, 1-sided p = 0.027). Treatment order, baseline ESS, the number of lesions, moisturization practices, and a history of previous blood transfusions did not significantly affect the results. This trial demonstrated that sclerotherapy with STS (vs standard treatment) significantly reduced epistaxis due to HHT. © 2015 ARS-AAOA, LLC.

  9. Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study.

    Science.gov (United States)

    Fang, Jia; Chen, Xiaomeng; Zhu, Bijun; Ye, Haibo; Zhang, Weitian; Guan, Jian; Su, Kaiming

    2017-08-01

    To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. The mean ESS before treatment, at the end of treatment, and 3 months after stopping treatment was 5.03 ± 2.05, 0.90 ± 0.84 ( P = .003), and 1.98 ± 1.33 ( P = .006), respectively. Four patients reported mild to moderate side effects, including drowsiness, dizziness, constipation, nausea, and peripheral neuropathy. Two patients stopped the treatment because of adverse effects. Those results showed that thalidomide may be a treatment choice for recurrent epistaxis in HHT patients, although the side effects should be considered. Further study should focus on guidelines for dosing and course and investigate how to reduce the adverse effects.

  10. PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Ola, Roxana; Dubrac, Alexandre; Han, Jinah; Zhang, Feng; Fang, Jennifer S; Larrivée, Bruno; Lee, Monica; Urarte, Ana A; Kraehling, Jan R; Genet, Gael; Hirschi, Karen K; Sessa, William C; Canals, Francesc V; Graupera, Mariona; Yan, Minhong; Young, Lawrence H; Oh, Paul S; Eichmann, Anne

    2016-11-29

    Activin receptor-like kinase 1 (ALK1) is an endothelial serine-threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice. VEGF and PI3K/AKT signalling are increased on Alk1 deletion and BMP9/10 ligand blockade. Genetic deletion of the signal-transducing Vegfr2 receptor prevents excessive angiogenesis but does not fully revert AVM formation. In contrast, pharmacological PI3K inhibition efficiently prevents AVM formation and reverts established AVMs. Thus, Alk1 deletion leads to increased endothelial PI3K pathway activation that may be a novel target for the treatment of vascular lesions in HHT2.

  11. Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations. Results in 31 patients

    International Nuclear Information System (INIS)

    Krings, T.; Chng, S.M.; Ozanne, A.; Alvarez, H.; Lasjaunias, P.L.; Rodesch, G.

    2005-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a heterogeneous disease that can present with a variety of clinical manifestations. The neurovascular complications of this disease, especially in children, may be potentially devastating. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 patients under the age of 16 were included in this retrospective analysis. All children were treated in a single center. Twenty children presented with 28 arteriovenous (AV) fistulae, including seven children with spinal AV fistulae and 14 children with cerebral AV fistulae (one child had both a spinal and cerebral fistulae). Eleven children had small nidus-type AV malformations. All embolizations were performed employing superselective glue injection. Follow-up ranged between 3 and 168 months (mean 66 months). A total of 115 feeding vessels were embolized in 81 single sessions, resulting in a mean overall occlusion rate of the malformation of 77.4% (ranging from 30 to 100%). Two of 31 patients (6.5%) died as a direct complication of the embolization procedure; two patients (6.5%) had a persistent new neurological deficit; eight patients (26.7%) were clinically unchanged following the procedure; in 13 patients (41.9%) an amelioration of symptoms but no cure could be achieved; and six patients (19.4%) were completely asymptomatic following the endovascular procedure. (orig.)

  12. Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia.

    Science.gov (United States)

    Hosman, A; Westermann, C J J; Snijder, R; Disch, F; Mummery, C L; Mager, J J

    2015-12-01

    Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions. In addition, they reported a better quality of life. However, Thalidomide has significant negative side effects, including neuropathy and fatigue. We followed up all HHT patients in the Netherlands who had been taking Thalidomide at the time the original study was completed to find out (i) how many had continued taking Thalidomide and for how long (ii) the nature and severity of any side-effects and (iii) whether side-effects had influenced their decision to continue taking Thalidomide. Only a minority of patients had continued taking the drug despite its beneficial effects on their symptoms and that the side effects were the primary reason to stop. Despite symptom reduction, alternative treatments are still necessary for epistaxis in HHT patients and a large-scale clinical trial is not justified although incidental use in the most severely affected patients can be considered.

  13. The effect of bevacizumab (Avastin) treatment on epistaxis in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Simonds, Jana; Miller, Frank; Mandel, Jess; Davidson, Terence M

    2009-05-01

    Determine the effectiveness of treating epistaxis in hereditary hemorrhagic telangiectasia (HHT) with potassium titanyl phosphate (KTP) laser cautery combined with submucosal injection of 100 mg of bevacizumab. Retrospective pilot study. Bevacizumab was injected throughout the nasal cavity following KTP laser treatment in 10 patients (bevacizumab/KTP group) and compared to nine patients previously treated with KTP laser alone (KTP group). Epistaxis frequency and severity, blood transfusion requirement, intravenous iron supplementation, emergency department visit frequency, and quality of life within 1 month and 1 year pre- and postsurgery were analyzed. Benefit was defined as less than three nosebleeds per week, with less than 10 minutes to stop each nosebleed, and no blood transfusions. The pre- and postsurgery data were analyzed within and between the two groups. The groups were comparable in age and gender. Significant benefit was found in frequency of epistaxis (P epistaxis is superior to KTP laser treatment alone. It significantly decreases frequency and severity of nosebleeds and blood transfusion requirements, and significantly improves work ability and quality of life.

  14. Are patients with severe epistaxis caused by hereditary hemorrhagic telangiectasia satisfied with nostril closure surgery?

    Science.gov (United States)

    Ichimura, Keiichi; Kikuchi, Hisashi; Imayoshi, Shoichiro; Yamauchi, Tomohiko; Ishikawa, Kotaro

    2012-02-01

    Recurrent epistaxis as a manifestation of hereditary hemorrhagic telangiectasia (HHT) is usually difficult to control. Although no treatment is regarded to be completely efficacious, nostril closure is considered a modality of choice for the most severe cases. The cessation of airflow resulting from this procedure can stop bleeding by minimizing risk factors. However, loss of nasal functions is a disadvantage of nostril closure. We conducted a questionnaire survey of patients who underwent nostril closure surgery, regarding the effects and disadvantages of the operation. Seven patients were asked questions on issues including frequency and severity of epistaxis pre- and post-operatively, satisfaction of treatment, and impairment in daily living activities. Most patients reported complete cessation of bleeding. Some still had bleeding, but the frequency and severity were far lower. No transfusions were required in any of the cases. Patients reported some disadvantages, for example, respiratory, olfactory, and phonatory issues. Six out of seven patients were very satisfied with the outcome of surgery. Nostril closure surgery can remarkably reduce frequency and volume of epistaxis. Our survey indicated that satisfactory results were achieved. However, difficulties caused by complete nasal obstruction varied. Thus, individualized coping strategies are required. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  15. Identification of ataxia telangiectasia heterozygotes by flow cytometric analysis of X-ray damage

    International Nuclear Information System (INIS)

    Rudolph, N.S.

    1989-01-01

    Flow cytometry was used to identify heterozygotes for the autosomal recessive DNA-repair deficiency disease ataxia telangiectasia (AT). Confluent G 0 /G 1 fibroblasts from 4 homozygotes (at/at), 5 obligate heterozygates (at/+) and 7 presumed normal (+/+) were X-irradiated with 200 Rad and subcultured immediately in medium containing 5-bromodeoxyuridine (BrdU). Cells were harvested 72 h later and stained with fluoresceinated anti-BrdU antibody to identify cells that had entered S phase. They were counterstained with propidium iodide to measure total DNA content. On the basis of relative release from G 0 /G 1 , the at/+ strains as a group were distinguished from both the presumed +/+ strains and at/at strains, although the individual values for some strains did show overlap between genotypes. When 10 cell strains were coded and analyzed in 'blind' experiments, all 4 heterozygotes were correctly assigned. By a similar assay in which exponentially growing cultures were pulsed briefly with BrdU 8 h after irradiation with 400 Rad and then harvested immediately, presumed +/+ cells as a group could be distinguished from at/at cells but not from at/- cells. This combination of assays assists in the identification of all 3 AT genotypes. This should be of both basic and diagnostic use, particularly in families known to segregate AT. (author). 37 refs.; 3 figs.; 5 tabs

  16. Progression of Diabetic Capillary Occlusion: A Model.

    Directory of Open Access Journals (Sweden)

    Xiao Fu

    2016-06-01

    Full Text Available An explanatory computational model is developed of the contiguous areas of retinal capillary loss which play a large role in diabetic maculapathy and diabetic retinal neovascularization. Strictly random leukocyte mediated capillary occlusion cannot explain the occurrence of large contiguous areas of retinal ischemia. Therefore occlusion of an individual capillary must increase the probability of occlusion of surrounding capillaries. A retinal perifoveal vascular sector as well as a peripheral retinal capillary network and a deleted hexagonal capillary network are modelled using Compucell3D. The perifoveal modelling produces a pattern of spreading capillary loss with associated macular edema. In the peripheral network, spreading ischemia results from the progressive loss of the ladder capillaries which connect peripheral arterioles and venules. System blood flow was elevated in the macular model before a later reduction in flow in cases with progression of capillary occlusions. Simulations differing only in initial vascular network structures but with identical dynamics for oxygen, growth factors and vascular occlusions, replicate key clinical observations of ischemia and macular edema in the posterior pole and ischemia in the retinal periphery. The simulation results also seem consistent with quantitative data on macular blood flow and qualitative data on venous oxygenation. One computational model applied to distinct capillary networks in different retinal regions yielded results comparable to clinical observations in those regions.

  17. Fluid Delivery System For Capillary Electrophoretic Applications.

    Science.gov (United States)

    Li, Qingbo; Liu, Changsheng; Kane, Thomas E.; Kernan, John R.; Sonnenschein, Bernard; Sharer, Michael V.

    2002-04-23

    An automated electrophoretic system is disclosed. The system employs a capillary cartridge having a plurality of capillary tubes. The cartridge has a first array of capillary ends projecting from one side of a plate. The first array of capillary ends are spaced apart in substantially the same manner as the wells of a microtitre tray of standard size. This allows one to simultaneously perform capillary electrophoresis on samples present in each of the wells of the tray. The system includes a stacked, dual carrousel arrangement to eliminate cross-contamination resulting from reuse of the same buffer tray on consecutive executions from electrophoresis. The system also has a gel delivery module containing a gel syringe/a stepper motor or a high pressure chamber with a pump to quickly and uniformly deliver gel through the capillary tubes. The system further includes a multi-wavelength beam generator to generate a laser beam which produces a beam with a wide range of wavelengths. An off-line capillary reconditioner thoroughly cleans a capillary cartridge to enable simultaneous execution of electrophoresis with another capillary cartridge. The streamlined nature of the off-line capillary reconditioner offers the advantage of increased system throughput with a minimal increase in system cost.

  18. The AAA+ proteins Pontin and Reptin enter adult age: from understanding their basic biology to the identification of selective inhibitors.

    Science.gov (United States)

    Matias, Pedro M; Baek, Sung Hee; Bandeiras, Tiago M; Dutta, Anindya; Houry, Walid A; Llorca, Oscar; Rosenbaum, Jean

    2015-01-01

    Pontin and Reptin are related partner proteins belonging to the AAA+ (ATPases Associated with various cellular Activities) family. They are implicated in multiple and seemingly unrelated processes encompassing the regulation of gene transcription, the remodeling of chromatin, DNA damage sensing and repair, and the assembly of protein and ribonucleoprotein complexes, among others. The 2nd International Workshop on Pontin and Reptin took place at the Instituto de Tecnologia Química e Biológica António Xavier in Oeiras, Portugal on October 10-12, 2014, and reported significant new advances on the mechanisms of action of these two AAA+ ATPases. The major points under discussion were related to the mechanisms through which these proteins regulate gene transcription, their roles as co-chaperones, and their involvement in pathophysiology, especially in cancer and ciliary biology and disease. Finally, they may become anticancer drug targets since small chemical inhibitors were shown to produce anti-tumor effects in animal models.

  19. Coordination of eye and head components of movements evoked by stimulation of the paramedian pontine reticular formation

    Science.gov (United States)

    Barton, Ellen J.; Sparks, David L.

    2013-01-01

    Constant frequency microstimulation of the paramedian pontine reticular formation (PPRF) in head-restrained monkeys evokes a constant velocity eye movement. Since the PPRF receives significant projections from structures that control coordinated eye-head movements, we asked whether stimulation of the pontine reticular formation in the head-unrestrained animal generates a combined eye-head movement or only an eye movement. Microstimulation of most sites yielded a constant-velocity gaze shift executed as a coordinated eye-head movement, although eye-only movements were evoked from some sites. The eye and head contributions to the stimulation-evoked movements varied across stimulation sites and were drastically different from the lawful relationship observed for visually-guided gaze shifts. These results indicate that the microstimulation activated elements that issued movement commands to the extraocular and, for most sites, neck motoneurons. In addition, the stimulation-evoked changes in gaze were similar in the head-restrained and head-unrestrained conditions despite the assortment of eye and head contributions, suggesting that the vestibuloocular reflex (VOR) gain must be near unity during the coordinated eye-head movements evoked by stimulation of the PPRF. These findings contrast the attenuation of VOR gain associated with visually-guided gaze shifts and suggest that the vestibulo-ocular pathway processes volitional and PPRF stimulation-evoked gaze shifts differently. PMID:18458891

  20. The AAA+ proteins Pontin and Reptin enter adult age: from understanding their basic biology to the identification of selective inhibitors

    Science.gov (United States)

    Matias, Pedro M.; Baek, Sung Hee; Bandeiras, Tiago M.; Dutta, Anindya; Houry, Walid A.; Llorca, Oscar; Rosenbaum, Jean

    2015-01-01

    Pontin and Reptin are related partner proteins belonging to the AAA+ (ATPases Associated with various cellular Activities) family. They are implicated in multiple and seemingly unrelated processes encompassing the regulation of gene transcription, the remodeling of chromatin, DNA damage sensing and repair, and the assembly of protein and ribonucleoprotein complexes, among others. The 2nd International Workshop on Pontin and Reptin took place at the Instituto de Tecnologia Química e Biológica António Xavier in Oeiras, Portugal on October 10–12, 2014, and reported significant new advances on the mechanisms of action of these two AAA+ ATPases. The major points under discussion were related to the mechanisms through which these proteins regulate gene transcription, their roles as co-chaperones, and their involvement in pathophysiology, especially in cancer and ciliary biology and disease. Finally, they may become anticancer drug targets since small chemical inhibitors were shown to produce anti-tumor effects in animal models. PMID:25988184

  1. Cortico-pontine theta carrier frequency phase shift across sleep/wake states following monoaminergic lesion in rat.

    Science.gov (United States)

    Kalauzi, Aleksandar; Spasic, Sladjana; Petrovic, Jelena; Ciric, Jelena; Saponjic, Jelena

    2012-06-01

    This study was aimed to explore the sleep/wake states related cortico-pontine theta carrier frequency phase shift following a systemically induced chemical axotomy of the monoaminergic afferents within a brain of the freely moving rats. Our experiments were performed in 14 adult, male Sprague Dawley rats, chronically implanted for sleep recording. We recorded sleep during baseline condition, following sham injection (saline i.p. 1 ml/kg), and every week for 5 weeks following injection of the systemic neurotoxins (DSP-4 or PCA; 1 ml/kg, i.p.) for chemical axotomy of the locus coeruleus (LC) and dorsal raphe (DR) axon terminals. After sleep/wake states identification, FFT analysis was performed on 5 s epochs. Theta carrier frequency phase shift (∆Φ) was calculated for each epoch by averaging theta Fourier component phase shifts, and the ∆Φ values were plotted for each rat in control condition and 28 days following the monoaminergic lesions, as a time for permanently established DR or LC chemical axotomy. Calculated group averages have shown that ∆Φ increased between pons and cortex significantly in all sleep/wake states (Wake, NREM and REM) following the monoaminergic lesions, with respect to controls. Monoaminergic lesions established the pontine leading role in the brain theta oscillations during all sleep/wake states.

  2. Identification of the Occipito-Pontine Tract Using Diffusion-Tensor Fiber Tracking in Adult-Onset Adrenoleukodystrophy with Topographic Disorientation

    Directory of Open Access Journals (Sweden)

    Yuji Uchida

    2011-05-01

    Full Text Available X-linked adrenoleukodystrophy is a severe and progressive neurodegenerative disease caused by the peroxisomal transporter ATP-binding cassette, subfamily D, member 1 gene mutations. The defect of this gene product results in accumulation of very-long-chain fatty acids in organs and serum, central demyelination, and peripheral axonopathy. Although there are different magnetic resonance (MR findings which reflect various phenotypes in adrenoleukodystrophy, some cases present with specific symmetrical occipital white-matter lesions. We describe a patient with adult-onset X-linked adrenoleukodystrophy with topographic disorientation, whose brain MR images revealed T2-signal hyperintensity along the occipito-pontine tract and lateral lemnisci, but not in the cortico-spinal tract in the brainstem. The occipito-pontine tract and lateral lemnisci were clearly detected using diffusion-tensor fiber tracking, suggesting that the topographic disorientation of this patient might be related to the occipito-pontine tract. MR tractography can effectively identify the occipito-pontine tract and may help to localize the fibers associated with clinical symptoms.

  3. Role of MRI in the management of children with diffuse pontine tumors: a study of 15 patients and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Kornreich, Liora; Schwarz, Michael; Karmazyn, Boaz; Horev, Gadi [Schneider Children' s Medical Center of Israel, Department of Imaging, Petah Tiqva (Israel); Tel Aviv University, Sackler Faculty of Medicine, Tel Aviv (Israel); Cohen, Ian J.; Shuper, Avinoam; Yaniv, Issac [Tel Aviv University, Sackler Faculty of Medicine, Tel Aviv (Israel); Schneider Children' s Medical Center of Israel, Department of Hematology-Oncology, Petah Tiqva (Israel); Michovitz, Shalom [Tel Aviv University, Sackler Faculty of Medicine, Tel Aviv (Israel); Schneider Children' s Medical Center of Israel, Department of Neurosurgery, Petah Tiqva (Israel); Fenig, Eyal [Tel Aviv University, Sackler Faculty of Medicine, Tel Aviv (Israel); Rabin Medical Center,Beilinson Campus, Institute of Oncology, Radiotherapy Unit, Petah Tiqva (Israel)

    2005-09-01

    Pontine tumors carry the worst prognosis of all brain tumors. In most cases, the diagnosis is based solely on MR imaging, without biopsy. To describe the MR findings of pontine tumors at diagnosis and during follow-up and correlate those with prognosis and to assess the value of MR imaging in patient management compared to clinical evaluation. Ninety-one MR scans of 15 children with diffuse pontine tumors were reviewed at diagnosis and during follow-up. The parameters analyzed were as follows: tumor extent, area, and volume; encasement of the basilar artery; presence of exophytic component; necrosis; cysts; hydrocephalus; and intensity and enhancement. Findings were correlated to length of progression-free and overall survival. Trends of amelioration or worsening on imaging were compared with the clinical findings. Median length of progression-free survival was 10 months, and median survival was 20 months. Only hydrocephalus at presentation was associated with shorter progression-free survival (P=0.02). On the last examination of each patient, the craniocaudal diameter was significantly greater than at diagnosis (P=0.03). The concordance between the imaging and the clinical findings was good. MR is the mainstay for the diagnosis and management of pontine tumors. Cranial growth seems to be an ominous sign. However, the prognostic value of MR is limited. MR findings correlate well with the clinical examination. (orig.)

  4. Microfluidic PMMA interfaces for rectangular glass capillaries

    International Nuclear Information System (INIS)

    Evander, Mikael; Tenje, Maria

    2014-01-01

    We present the design and fabrication of a polymeric capillary fluidic interface fabricated by micro-milling. The design enables the use of glass capillaries with any kind of cross-section in complex microfluidic setups. We demonstrate two different designs of the interface; a double-inlet interface for hydrodynamic focusing and a capillary interface with integrated pneumatic valves. Both capillary interfaces are presented together with examples of practical applications. This communication shows the design optimization and presents details of the fabrication process. The capillary interface opens up for the use of complex microfluidic systems in single-use glass capillaries. They also enable simple fabrication of glass/polymer hybrid devices that can be beneficial in many research fields where a pure polymer chip negatively affects the device's performance, e.g. acoustofluidics. (technical note)

  5. Capillary pumped loop body heat exchanger

    Science.gov (United States)

    Swanson, Theodore D. (Inventor); Wren, deceased, Paul (Inventor)

    1998-01-01

    A capillary pumped loop for transferring heat from one body part to another body part, the capillary pumped loop comprising a capillary evaporator for vaporizing a liquid refrigerant by absorbing heat from a warm body part, a condenser for turning a vaporized refrigerant into a liquid by transferring heat from the vaporized liquid to a cool body part, a first tube section connecting an output port of the capillary evaporator to an input of the condenser, and a second tube section connecting an output of the condenser to an input port of the capillary evaporator. A wick may be provided within the condenser. A pump may be provided between the second tube section and the input port of the capillary evaporator. Additionally, an esternal heat source or heat sink may be utilized.

  6. Role of Early Postradiation Magnetic Resonance Imaging Scans in Children With Diffuse Intrinsic Pontine Glioma

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Christine [Radiation Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States); Kaushal, Aradhana, E-mail: kaushala@mail.nih.gov [Radiation Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States); Hammoud, Dima A. [Radiology and Imaging Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States); Steffen-Smith, Emilie A.; Bent, Robyn [Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States); Citrin, Deborah; Camphausen, Kevin [Radiation Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States); Warren, Katherine E. [Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD (United States)

    2012-07-15

    Purpose: To determine optimal timing of assessing postradiation radiographic response on magnetic resonance imaging (MRI) scans in pediatric patients with diffuse intrinsic pontine glioma (DIPG). Methods and Materials: Patients were treated on a prospective study at the National Cancer Institute (Protocol no. 06-C-0219) evaluating the effects of radiotherapy (RT). Standard RT was administered in standard fractionation over 6 weeks. Postradiation MRI scans were performed at 2 and 6-8 weeks. Results: Eleven patients with DIPG were evaluated. Median age was 6 years (range, 4-13 years). Patients were treated with external-beam RT to 55.8 Gy (n = 10) or 54 Gy (n = 1), with a gross tumor volume to planning target volume expansion of 1.8-2.0 cm. All patients received prescribed dose and underwent posttreatment MRI scans at 2 and 6-8 weeks. Pretreatment imaging revealed compression of fourth ventricle (n = 11); basilar artery encasement (n = 9); tumor extension outside the pons (n = 11); and tumor hemorrhage (n = 2). At the 2-week scan, basilar artery encasement improved in 7 of 9 patients, and extent of tumor was reduced in 5 of 11 patients. Fourth ventricle compression improved in 6 of 11 patients but worsened in 3 of 11 patients. Presumed necrosis was observed in 5 of 11 patients at 2 weeks and in 1 additional patient at 6-8 weeks. There was no significant difference in mean anteroposterior and transverse diameters of tumor between the 2- and 6-8-week time points. Six of 11 patients had increasing ventricular size, with no evidence of obstruction. Conclusions: There is no significant difference in tumor size of DIPG patients who have received standard RT when measured at 2 weeks vs. 6-8 weeks after RT. The majority of patients had the largest change in tumor size at the 2-week post-RT scan, with evolving changes documented on the 6-8-week scan. Six of 11 patients had progressive ventriculomegaly without obstruction, suggestive of communicating hydrocephalus. To the best

  7. Diagnostic criteria for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).

    Science.gov (United States)

    Tobin, W Oliver; Guo, Yong; Krecke, Karl N; Parisi, Joseph E; Lucchinetti, Claudia F; Pittock, Sean J; Mandrekar, Jay; Dubey, Divyanshu; Debruyne, Jan; Keegan, B Mark

    2017-09-01

    Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies. Thirty-five patients were evaluated for suspected CLIPPERS. Clinical and neuroimaging data were reviewed by three neurologists to confirm CLIPPERS by consensus agreement. Neuroimaging and neuropathology were reviewed by experienced neuroradiologists and neuropathologists, respectively, both of whom were blinded to the clinical data. CLIPPERS was diagnosed in 23 patients (18 male and five female) and 12 patients had a non-CLIPPERS diagnosis. CLIPPERS patients' median age of onset was 58 years (interquartile range, 24-72) and were followed a median of 44 months (interquartile range 38-63). Non-CLIPPERS patients' median age of onset was 52 years (interquartile range, 39-59) and were followed a median of 27 months (interquartile range, 14-47). Clinical symptoms of gait ataxia, diplopia, cognitive impairment, and facial paraesthesia did not discriminate CLIPPERS from non-CLIPPERS. Marked clinical and radiological corticosteroid responsiveness was observed in CLIPPERS (23/23), and clinical worsening occurred in all 12 CLIPPERS cases when corticosteroids were discontinued. Corticosteroid responsiveness was common but not universal in non-CLIPPERS [clinical improvement (8/12); radiological improvement (2/12); clinical worsening on discontinuation (3/8)]. CLIPPERS patients had brainstem predominant perivascular gadolinium enhancing

  8. REM sleep modulation by perifornical orexinergic inputs to the pedunculo-pontine tegmental neurons in rats.

    Science.gov (United States)

    Khanday, M A; Mallick, B N

    2015-11-12

    Rapid eye movement sleep (REMS) is regulated by the interaction of the REM-ON and REM-OFF neurons located in the pedunculo-pontine-tegmentum (PPT) and the locus coeruleus (LC), respectively. Many other brain areas, particularly those controlling non-REMS (NREMS) and waking, modulate REMS by modulating these REMS-related neurons. Perifornical (PeF) orexin (Ox)-ergic neurons are reported to increase waking and reduce NREMS as well as REMS; dysfunction of the PeF neurons are related to REMS loss-associated disorders. Hence, we were interested in understanding the neural mechanism of PeF-induced REMS modulation. As a first step we have recently reported that PeF Ox-ergic neurons modulate REMS by influencing the LC neurons (site for REM-OFF neurons). Thereafter, in this in vivo study we have explored the role of PeF inputs on the PPT neurons (site for REM-ON neurons) for the regulation of REMS. Chronic male rats were surgically prepared with implanted bilateral cannulae in PeF and PPT and electrodes for recording sleep-waking patterns. After post-surgical recovery sleep-waking-REMS were recorded when bilateral PeF neurons were stimulated by glutamate and simultaneously bilateral PPT neurons were infused with either saline or orexin receptor1 (OX1R) antagonist. It was observed that PeF stimulation increased waking and decreased NREMS as well as REMS, which were prevented by OX1R antagonist into the PPT. We conclude that the PeF stimulation-induced reduction in REMS was likely to be due to inhibition of REM-ON neurons in the PPT. As waking and NREMS are inversely related, subject to confirmation, the reduction in NREMS could be due to increased waking or vice versa. Based on our findings from this and earlier studies we have proposed a model showing connections between PeF- and PPT-neurons for REMS regulation. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

  9. Intracranial capillary hemangioma mimicking a dissociative disorder

    Directory of Open Access Journals (Sweden)

    Alexander Lacasse

    2012-01-01

    Full Text Available Capillary hemangiomas, hamartomatous proliferation of vascular endothelial cells, are rare in the central nervous system (CNS. Intracranial capillary hemangiomas presenting with reversible behavioral abnormalities and focal neurological deficits have rarely been reported. We report a case of CNS capillary hemangioma presenting with transient focal neurological deficits and behavioral abnormalities mimicking Ganser’s syndrome. Patient underwent total excision of the vascular malformation, resulting in complete resolution of his symptoms.

  10. Capillary condensation between disks in two dimensions

    OpenAIRE

    Gil, Tamir; Ipsen, John Hjorth

    1997-01-01

    Capillary condensation between two two-dimensional wetted circular substrates (disks) is studied by an effective free energy description of the wetting interface. The interfacial free-energy potential is developed on the basis of the theory for the wetting of a single disk, where interfacial capillary fluctuations play a dominant role. A simple approximative analytical expression of the interfacial free energy is developed and is validated numerically. The capillary condensation is characteri...

  11. Capillary concentrators for synchrotron radiation beamlines

    International Nuclear Information System (INIS)

    Heald, S.M.; Brewe, D.L.; Kim, K.H.; Brown, F.C.; Barg, B.; Stern, E.A.

    1996-01-01

    Capillary concentrators condense x-rays by multiple reflections down a gradually tapering capillary. They can provide sub-micron beam spots, and are promising candidates for use in the next generation x-ray microprobe beamlines. The weak energy dependence of their properties make them especially useful for energy scanning applications such as micro-XAFS. This paper examines the potential performance of capillary optics for an x-ray microprobe, as well as some practical issues such as fabrication and alignment. Best performance at third generation sources requires long capillaries, and the authors have been using fiber optics techniques to fabricate capillaries up to one meter in length. The performance of shorter (less than about 0.5 m) capillaries has often been found to agree well with theoretical calculations, indicating the inner surface is a high quality x-ray reflector. These capillaries have been tested at the NSLS for imaging and micro-XAFS down to 2.6 microm resolution with excellent results. On an unfocused bend magnet line flux density approaching 10 6 ph/sec/microm 2 has been achieved. While nearly optimum profiles have been achieved for longer capillaries, the results have been disappointing, and alignment problems are suspected. The dramatic improvement in performance possible at third generation synchrotrons such as the APS is discussed along with improvements possible by using the capillaries in conjunction with coupling optics

  12. Slope wavenumber spectrum models of capillary and capillary-gravity waves

    Institute of Scientific and Technical Information of China (English)

    贾永君; 张杰; 王岩峰

    2010-01-01

    Capillary and capillary-gravity waves possess a random character, and the slope wavenumber spectra of them can be used to represent mean distributions of wave energy with respect to spatial scale of variability. But simple and practical models of the slope wavenumber spectra have not been put forward so far. In this article, we address the accurate definition of the slope wavenumber spectra of water surface capillary and capillary-gravity waves. By combining the existing slope wavenumber models and using th...

  13. Capillary electrophoresis and nanomaterials - Part I: Capillary electrophoresis of nanomaterials.

    Science.gov (United States)

    Adam, Vojtech; Vaculovicova, Marketa

    2017-10-01

    Nanomaterials are in analytical science used for a broad range of purposes, covering the area of sample pretreatment as well as separation, detection, and identification of target molecules. This part of the review covers capillary electrophoresis (CE) of nanomaterials and focuses on the application of CE as a method for characterization used during nanomaterial synthesis and modification as well as the monitoring of their properties and interactions with other molecules. The heterogeneity of the nanomaterial family is extremely large. Depending on different definitions of the term Nanomaterial/Nanoparticle, the group may cover metal and polymeric nanoparticles, carbon nanomaterials, liposomes and even dendrimers. Moreover, these nanomaterials are usually subjected to some kind of surface modification or functionalization, which broadens the diversity even more. Not only for purposes of verification of nanomaterial synthesis and batch-to-batch quality check, but also for determination the polydispersity and for functionality characterization on the nanoparticle surface, has CE offered very beneficial capabilities. Finally, the monitoring of interactions between nanomaterials and other (bio)molecules is easily performed by some kind of capillary electromigration technique. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Vacuum scanning capillary photoemission microscopy

    DEFF Research Database (Denmark)

    Aseyev, S.A.; Cherkun, A P; Mironov, B N

    2017-01-01

    of a gold reflecting layer on a compact disc which has been illuminated by an unfocused laser beam with a wavelength 400nm, from a femtosecond laser with a beam size of 4mm. A quartz capillary with a 2-µm aperture has been used in the experiments. The period of gold microstructure, shown to be 1.6µ...... distribution of the recorded photoelectrons consisted of periodic mountain-valley strips, resembling the surface profile of the sample. Submicron spatial resolution has been achieved. This approach paves the way to study pulsed photodesorption of large organic molecular ions with high spatial and element...

  15. Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency.

    Science.gov (United States)

    Gul, Ersin; Sayar, Esra Hazar; Gungor, Bilgi; Eroglu, Fehime Kara; Surucu, Naz; Keles, Sevgi; Guner, Sukru Nail; Findik, Siddika; Alpdundar, Esin; Ayanoglu, Ihsan Cihan; Kayaoglu, Basak; Geckin, Busra Nur; Sanli, Hatice Asena; Kahraman, Tamer; Yakicier, Cengiz; Muftuoglu, Meltem; Oguz, Berna; Cagdas Ayvaz, Deniz Nazire; Gursel, Ihsan; Ozen, Seza; Reisli, Ismail; Gursel, Mayda

    2017-11-16

    Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated vasculopathy in infancy (SAVI). We sought to test the hypothesis that the inflammation-associated manifestations observed in patients with AT and Artemis deficiency stem from increased type I IFN signature leading to neutrophil-mediated pathological damage. Cytokine/protein signatures were determined by ELISA, cytometric bead array, or quantitative PCR. Stat1 phosphorylation levels were determined by flow cytometry. DNA species accumulating in the cytosol of patients' cells were quantified microscopically and flow cytometrically. Propensity of isolated polymorhonuclear granulocytes to form neutrophil extracellular traps (NETs) was determined using fluorescence microscopy and picogreen assay. Neutrophil reactive oxygen species levels and mitochondrial stress were assayed using fluorogenic probes, microscopy, and flow cytometry. Type I and III IFN signatures were elevated in plasma and peripheral blood cells of patients with AT, Artemis deficiency, and SAVI. Chronic IFN production stemmed from the accumulation of DNA in the cytoplasm of AT and Artemis-deficient cells. Neutrophils isolated from patients spontaneously produced NETs and displayed indicators of oxidative and mitochondrial stress, supportive of their NETotic tendencies. A similar phenomenon was also observed in neutrophils from healthy controls exposed to patient plasma samples or exogeneous IFN-α. Type I IFN-mediated neutrophil activation and NET formation may contribute to inflammatory manifestations observed in patients with AT, Artemis deficiency, and SAVI. Thus, neutrophils represent a promising target to manage inflammatory syndromes in diseases with active type I IFN signature. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights

  16. Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study.

    Science.gov (United States)

    Pommerening, H; van Dullemen, S; Kieslich, M; Schubert, R; Zielen, S; Voss, S

    2015-12-09

    Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. Affected patients show growth failure, poor weight gain, low body mass index (BMI), myopenia and increased fatigue during adolescence. The prevalence of alterations in body composition, muscle strength and hormonal status has not been well described in classical A-T patients. Additionally, no current guidelines are available for the assessment and management of these changes. We analyzed body composition, manual muscle strength and hormonal status in 25 A-T patients and 26 age-matched, healthy controls. Bioelectrical impedance analysis (BIA) was performed to evaluate the body composition, fat-free mass (FFM), body cell mass (BCM), extracellular matrix (ECM), phase angle (PhA), fat mass (FM) and ECM to BCM ratio. Manual muscle strength was measured using a hydraulic hand dynamometer. The BMI, FFM and PhA were significantly lower in A-T patients than in controls (BMI 16.56 ± 3.52 kg/m(2) vs. 19.86 ± 3.54 kg/m(2); Z-Score: -1.24 ± 1.29 vs. 0.05 ± 0.92, p body composition, characterized by depleted BMI, PhA and BCM; by the need to sit in a wheelchair; by altered hormone levels; and by poor muscle strength, is a major factor underlying disease progression and increased fatigue in A-T patients. ClinicalTrials.gov NCT02345200.

  17. Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response.

    Science.gov (United States)

    Smith, Rebecca J; Savoian, Matthew S; Weber, Lauren E; Park, Jeong Hyeon

    2016-11-04

    Ataxia telangiectasia mutated (ATM) and TRRAP proteins belong to the phosphatidylinositol 3-kinase-related kinase family and are involved in DNA damage repair and chromatin remodeling. ATM is a checkpoint kinase that is recruited to sites of DNA double-strand breaks where it phosphorylates a diverse range of proteins that are part of the chromatin and DNA repair machinery. As an integral subunit of the TRRAP-TIP60 complexes, p400 ATPase is a chromatin remodeler that is also targeted to DNA double-strand break sites. While it is understood that DNA binding transcriptional activators recruit p400 ATPase into a regulatory region of the promoter, how p400 recognises and moves to DNA double-strand break sites is far less clear. Here we investigate a possibility whether ATM serves as a shuttle to deliver p400 to break sites. Our data indicate that p400 co-immunoprecipitates with ATM independently of DNA damage state and that the N-terminal domain of p400 is vital for this interaction. Heterologous expression studies using Sf9 cells revealed that the ATM-p400 complex can be reconstituted without other mammalian bridging proteins. Overexpression of ATM-interacting p400 regions in U2OS cells induced dominant negative effects including the inhibition of both DNA damage repair and cell proliferation. Consistent with the dominant negative effect, the stable expression of an N-terminal p400 fragment showed a decrease in the association of p400 with ATM, but did not alter the association of p400 with TRRAP. Taken together, our findings suggest that a protein-protein interaction between ATM and p400 ATPase occurs independently of DNA damage and contributes to efficient DNA damage response and repair.

  18. Ataxia Telangiectasia-Mutated (ATMPolymorphisms and Risk of Lung Cancer in a Chinese Population

    Directory of Open Access Journals (Sweden)

    Ajay A. Myneni

    2017-06-01

    Full Text Available BackgroundThe ataxia telangiectasia-mutated (ATM gene has a key role in DNA repair including activation and stabilization of p53, which implicates the importance of ATM polymorphisms in the development of cancer. This study aims to investigate the association of two ATM single-nucleotide polymorphisms (SNPs with lung cancer, as well as their potential interaction with p53 gene and other known risk factors of lung cancer.MethodsA population-based case–control study was conducted in Taiyuan city, China with 399 cases and 466 controls matched on the distribution of age and sex of cases. The two ATM gene SNPs, ATMrs227060 and ATMrs228589 as well as p53 gene SNP, p53rs1042522 were genotyped using Sequenom platform. Unconditional logistic regression models were used to estimate crude and adjusted odds ratios (aOR and 95% confidence intervals (CIs. Adjusted models controlled for age, sex, and smoking status.ResultsThe study showed that TT genotype of ATMrs227060 (aOR = 1.58, 95% CI: 1.06–2.35 and AA genotype of ATMrs228589 were significantly associated with lung cancer (aOR = 1.50, 95% CI: 1.08–2.08 in a recessive model. Additionally, carrying variant genotypes of ATMrs227060 (TT, ATMrs228589 (AA, and p53rs1042522 (CC concomitantly was associated with much higher risk (aOR = 3.68, 95% CI: 1.43–9.45 of lung cancer than carrying variant genotypes of any one of the above three SNPs. We also found multiplicative and additive interaction between tea drinking and ATMrs227060 in association with lung cancer.ConclusionThis study indicates that ATM gene variants might be associated with development of lung cancer in Chinese population. These results need to be validated in larger and different population samples.

  19. Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Emmanuelle eTillet

    2015-01-01

    Full Text Available Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia (HHT, is an autosomal dominant vascular disorder. Three genes are causally related to HHT: the ENG gene encoding endoglin, a co-receptor of the TGFß family (HHT1, the ACVRL1 gene encoding ALK1 (activin receptor-like kinase 1, a type I receptor of the TGFß family (HHT2, and the SMAD4 gene, encoding a transcription factor critical for this signaling pathway. Bone morphogenetic proteins (BMPs are growth factors of the TGFß family. Among them, BMP9 and BMP10 have been shown to bind directly with high affinity to ALK1 and endoglin, and BMP9 mutations have recently been linked to a vascular-anomaly syndrome that has phenotypic overlap with HHT. BMP9 and BMP10 are both circulating cytokines in blood, and the current working model is that BMP9 and BMP10 maintain a quiescent endothelial state that is dependent on the level of ALK1/endoglin activation on endothelial cells. In accordance with this model, to explain the etiology of HHT we hypothesize that a deficient BMP9/BMP10/ALK1/endoglin pathway may lead to re-activation of angiogenesis or a greater sensitivity to an angiogenic stimulus. Resulting endothelial hyperproliferation and hypermigration may lead to vasodilatation and formation of arteriovenous malformation (AVM. HHT would thus result from a defect in the angiogenic balance. This review will focus on the emerging role played by BMP9 and BMP10 in the development of this disease and the therapeutic approaches that this opens.

  20. Hepatic artery embolization for treatment of patients with hereditary hemorrhagic telangiectasia and symptomatic hepatic vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Chavan, Ajay [Hannover Medical School, Department of Diagnostic Radiology, Hannover (Germany); Klinikum Oldenburg, Department of Radiology and Nuclear Medicine, Oldenburg (Germany); Caselitz, Martin; Wagner, Siegfried; Manns, Michael [Hannover Medical School, Department of Gastroenterology and Hepatology, Hannover (Germany); Gratz, Karl-Friedrich [Hannover Medical School, Department of Nuclear Medicine, Hannover (Germany); Lotz, Joachim; Kirchhoff, Timm; Galanski, Michael [Hannover Medical School, Department of Diagnostic Radiology, Hannover (Germany); Piso, Plinio [Hannover Medical School, Department of Abdominal and Transplantation Surgery, Hannover (Germany)

    2004-11-01

    At present there is no established therapy for treating patients with hereditary hemorrhagic telangiectasia (HHT) and symptomatic hepatic involvement. We present the results of a prospective study with 15 consecutive patients who were treated with staged hepatic artery embolization (HAE). Branches of the hepatic artery were selectively catheterized and embolized in stages using polyvinyl alcohol particles (PVA) and platinum microcoils or steel macrocoils. Prophylactic antibiotics, analgesics and anti-emetics were administered after every embolization. Clinical symptomatology and cardiac output were assessed before and after therapy as well as at the end of follow-up (median 28 months; range 10-136 months). Five patients had abdominal pain and four patients had symptoms of portal hypertension. The cardiac output was raised in all patients, with cardiac failure being present in 11 patients. After treatment, pain resolved in all five patients, and portal hypertension improved in two of the four patients. The mean cardiac output decreased significantly (P<0.001) from 12.57{+-}3.27 l/min pre-treatment to 8.36{+-}2.60 l/min at the end of follow-up. Symptoms arising from cardiac failure resolved or improved markedly in all but one patient. Cholangitis and/or cholecystitis occurred in three patients of whom two required a cholecystectomy. One patient with pre-existent hepatic cirrhosis died as a complication of the procedure. Staged HAE yields long-term relief of clinical symptoms in patients with HHT and hepatic involvement. Patients with pre-existing hepatic cirrhosis may be poor candidates for HAE. (orig.)

  1. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Kuan, Edward C; Peng, Kevin A; Thompson, Christopher F; Suh, Jeffrey D; Wang, Marilene B

    2017-04-01

    Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder which manifests as recurrent, episodic, and potentially debilitating epistaxis. In this study, we aim to (1) characterize baseline sinonasal symptoms for HHT patients and to (2) analyze changes in sinonasal symptoms before and after laser surgical treatment for HHT. We performed a retrospective chart review of sinonasal outcome test-22 (SNOT-22) scores before and after one or more laser surgical treatments for HHT-related epistaxis between January 1, 2010 and December 1, 2015 at a tertiary academic medical center with an HHT Foundation-approved Center of Excellence. Preoperative and all subsequent postoperative SNOT-22 scores (short-term, epistaxis. Mean preoperative, short-term postoperative, and long-term postoperative SNOT-22 scores were 34.6 ± 5.4, 33.9 ± 5.5, and 18.8 ± 4.6, respectively. When analyzing subcategory scores, there was a significant improvement in the rhinologic domain from short-term to long-term postoperatively (13.5 vs. 7.3; p = 0.004), in the non-rhinologic otolaryngic domain from short-term to long-term postoperatively (2.8 vs. 1.7; p = 0.014), and in the psychological domain from preoperative and short-term postoperative to long-term postoperatively (12.2 and 10.0 vs. 6.0; p = 0.015 and 0.01, respectively). Following laser surgery for HHT-related epistaxis, patients' rhinologic symptoms worsened on the short run postoperatively but improved over time. The main benefit of laser treatment appears to be long-term improvement in psychological factors. This study once again underscores the important role of the otolaryngologist in managing sinonasal manifestations of HHT.

  2. The minimal important difference of the epistaxis severity score in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Yin, Linda X; Reh, Douglas D; Hoag, Jeffrey B; Mitchell, Sally E; Mathai, Stephen C; Robinson, Gina M; Merlo, Christian A

    2016-05-01

    Hereditary hemorrhagic telangiectasia (HHT) is a disease of abnormal angiogenesis, causing epistaxis in over 96% of patients. The Epistaxis Severity Score (ESS) was developed as a standardized measurement of nasal symptoms among HHT patients. The minimal important difference (MID) of a disease index estimates the smallest change that a patient and clinician would identify as important. This study aims to establish the MID of the ESS in a diverse population of HHT patients. Retrospective cross-sectional study in patients with a diagnosis of HHT using Curacao criteria or genetic testing. The ESS questionnaire and Medical Outcomes Study 36-Item Short Form (SF-36) were administered to participants recruited through the HHT Foundation Web site. Demographics and relevant medical histories were collected from all participants. An anchor-based method using a change of 5 in the Physical Component Summary (PCS) of the SF-36 and a distributional method were used to estimate the MID. A total of 604 subjects were recruited between April and August 2008. All participants reported epistaxis. An increasing ESS in the study cohort showed a significant negative correlation to the PCS (r = -0.43, P < 0.001). The MID was determined to be 0.41 via the anchor-based approach and 1.01 via the distribution-based approach, giving a mean MID of 0.71. Using both the anchor-based and distribution-based approaches, the estimated MID for the ESS in HHT is 0.71. Further implications include key metrics to help guide treatment responses in clinical care and essential information to calculate power and sample size for future clinical trials. 4. Laryngoscope, 126:1029-1032, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  3. Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study.

    Science.gov (United States)

    Geirdal, Amy Østertun; Dheyauldeen, Sinan; Bachmann-Harildstad, Gregor; Heimdal, Ketil

    2012-06-01

    Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disease characterized by the presence of recurrent epistaxis and small characteristic malformations of the peripheral blood vessels near the surface of the skin or mucosal linings. Arteriovenous malformations (AVM) of the lung, liver, and CNS are also known clinical findings. The purpose of this study was to examine quality of life (QoL) in patients with HHT in Norway. Sixty-six affected patients (39 women and 27 men) were included. QoL on overall-, health-related (HR-QoL), and disease-specific levels were measured with Cantril's Ladder (CL), Short Form 36 (SF-36), and a Symptom-specific QoL question in HHT patients (SFB-HHT-Q), respectively. Comparisons were made between patients and an age and gender adjusted normative sample from the Norwegian population (N = 990). Overall, the results reflected that several HHT disease-related variables were associated with reduced QoL on all three levels; overall QoL (CL), HR-QoL (SF36) as well as disease-specific QoL (SFB-HHT-Q), while demographic variables impacted HR-QoL in HHT patients. Compared to the normative sample, all subscales of SF36, but bodily pain, were significantly poorer in the HHT patients. HHT disease variables had the strongest association with QoL compared to demographic variables. The results substantiate that disease severity is associated with poorer QoL in this patients. Pain contributed independently to all levels of QoL. Copyright © 2012 Wiley Periodicals, Inc.

  4. Lifestyle and dietary influences on nosebleed severity in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Silva, B Maneesha; Hosman, Anna E; Devlin, Hannah L; Shovlin, Claire L

    2013-05-01

    To identify factors influencing the severity of epistaxis in hereditary hemorrhagic telangiectasia (HHT). Participants with and without HHT were recruited from a specialist service and online following advertisement by the HHT Foundation International. Both groups were asked to complete a nonbiased questionnaire. The reported effects of specific treatments or lifestyle factors on epistaxis were assigned positive values if beneficial, negative values if detrimental, or zero if "no difference" and were summed to enable statistical analysis. Epistaxis affected 649 of 666 (97%) participants with HHT and was significantly more frequent than in control participants. Specialist invasive treatments were reported as beneficial, laser therapy more frequently than cauterization. Medical treatments commonly used for HHT epistaxis (female hormones, antiestrogens, tranexamic acid, aminocaproic acid, nasal creams, and bevacizumab) also had significantly positive (beneficial) scores. Lifestyle and dietary factors were generally detrimental, but room humidification, nasal lubrication, and saline treatments were all reported as beneficial (95% confidence intervals greater than zero). Multiple food items were volunteered as being detrimental to epistaxis. The most frequently reported items were alcohol (n = 45; 6.8% of participants) and spices (n = 26, 3.9% of participants). Remaining foods reported to exacerbate epistaxis were also found to be high in salicylates (including red wine, spices, chocolate, coffee, and certain fruits), natural antiplatelet activity (garlic, ginger, ginseng, ginkgo biloba, and vitamin E15), or omega-3 acids (oily fish, salmon). This study supports existing treatments and suggests lifestyle and dietary maneuvers that may also improve nosebleeds in HHT. 2c. Copyright © 2013 The American Laryngological, Rhinological, and Otological Society, Inc.

  5. Ion guiding and losses in insulator capillaries

    International Nuclear Information System (INIS)

    Juhasz, Z.; Sulik, B.; Vikor, Gy.; Biri, S.; Fekete, E.; Ivan, I.; Gall, F.; Toekesi, K.; Matefi-Tempfli, S.; Matefi-Tempfli, M.

    2007-01-01

    Complete text of publication follows. Not long ago it was discovered that insulating capillaries can guide slow ions, so that the ions avoid close contact with the capillary walls and preserve their initial charge state. This phenomenon did not only give a new puzzle for theoreticians but opened the way for new possible applications where ions are manipulated (deflected, focused and directed to different patterns on the irradiated media) with small capillary devices. The most important question for such applications is how large fraction of the ions can be guided to the desired direction. It is already known that the ion guiding is due to the charging up of the inner capillary walls by earlier ion impact events. In tilted capillaries one side of the capillary walls charges up. This deflects the later arriving ions, so that some of them pass through the capillaries nearly parallel with respect to their axes. The angle where the transmission drops to 1/e of the direct transmission at 0 deg is the guiding angle, which characterize the guiding ability. At 0 deg the ideal 100 percent transmission for the ions, which enter the capillaries, is reduced due to the mirror charge attraction and geometrical imperfections. These losses appear in the transmission for tilted capillaries with similar magnitude, since after the deflection region, which usually restricted to the close surroundings of the capillary openings, the guided ions pass through the rest of the capillaries as in non-tilted samples. In our experimental studies with Al 2 O 3 capillaries we found that around 90 percent of the incoming ions are lost. To understand these significant losses, the effects of the mirror charge attraction and geometrical imperfections have been calculated classically. The mirror charge potential was taken from.The model of the capillaries used in the calculations can be seen in Figure 1. The calculations have shown that the effects of mirror charge attraction and the angular

  6. Central pontine myelinolysis with a hyperintense lesion in diffusion weighted MRI: overview by means of a case report; Zentrale pontine Myelinolyse mit hyperintenser Laesion im diffusionsgewichteten MRT: Uebersicht anhand eines Fallberichtes

    Energy Technology Data Exchange (ETDEWEB)

    Kuhn, J.; Bewermeyer, H. [Neurologische Klinik, Kliniken der Stadt Koeln gGmbH, Krankenhaus Merheim, Koeln (Germany); Harzheim, A. [Radiologische Klinik, Kliniken der Stadt Koeln gGmbH, Krankenhaus Merheim, Koeln (Germany)

    2005-07-01

    Central pontine myelinolysis (CPM) is a demyelinating disease of the pons often associated with demyelination of other areas of the central nervous system (CNS). The etiology and pathogenesis of this disorder are still not fully understood. However, almost all cases of CPM are related to severe diseases or chronic alcoholism and occur in the setting of rapidly corrected serum hyponatremia and hypotonicity respectively. Depending on the involvement of other CNS structures, the clinical picture can vary considerably. Magnetic resonance imaging is the most sensitive investigation for the antemortem diagnosis of CPM, although the radiological findings lag behind and do not necessarily correlate with the clinical picture. Quite obviously diffusion-weighted imaging can be useful in the rapid diagnosis of CPM. This short review summarizes the current knowledge on the pathogenesis, clinical presentation, radiological findings, prognosis and therapeutic approaches of CPM. Characteristical clinical features and MR-findings including hyperintensity on diffusion-weighted images are illustrated by a typical case. (orig.)

  7. Two-dimensional capillary origami

    Energy Technology Data Exchange (ETDEWEB)

    Brubaker, N.D., E-mail: nbrubaker@math.arizona.edu; Lega, J., E-mail: lega@math.arizona.edu

    2016-01-08

    We describe a global approach to the problem of capillary origami that captures all unfolded equilibrium configurations in the two-dimensional setting where the drop is not required to fully wet the flexible plate. We provide bifurcation diagrams showing the level of encapsulation of each equilibrium configuration as a function of the volume of liquid that it contains, as well as plots representing the energy of each equilibrium branch. These diagrams indicate at what volume level the liquid drop ceases to be attached to the endpoints of the plate, which depends on the value of the contact angle. As in the case of pinned contact points, three different parameter regimes are identified, one of which predicts instantaneous encapsulation for small initial volumes of liquid. - Highlights: • Full solution set of the two-dimensional capillary origami problem. • Fluid does not necessarily wet the entire plate. • Global energy approach provides exact differential equations satisfied by minimizers. • Bifurcation diagrams highlight three different regimes. • Conditions for spontaneous encapsulation are identified.

  8. Two-dimensional capillary origami

    International Nuclear Information System (INIS)

    Brubaker, N.D.; Lega, J.

    2016-01-01

    We describe a global approach to the problem of capillary origami that captures all unfolded equilibrium configurations in the two-dimensional setting where the drop is not required to fully wet the flexible plate. We provide bifurcation diagrams showing the level of encapsulation of each equilibrium configuration as a function of the volume of liquid that it contains, as well as plots representing the energy of each equilibrium branch. These diagrams indicate at what volume level the liquid drop ceases to be attached to the endpoints of the plate, which depends on the value of the contact angle. As in the case of pinned contact points, three different parameter regimes are identified, one of which predicts instantaneous encapsulation for small initial volumes of liquid. - Highlights: • Full solution set of the two-dimensional capillary origami problem. • Fluid does not necessarily wet the entire plate. • Global energy approach provides exact differential equations satisfied by minimizers. • Bifurcation diagrams highlight three different regimes. • Conditions for spontaneous encapsulation are identified.

  9. Mixed Fluid Conditions: Capillary Phenomena

    KAUST Repository

    Santamarina, Carlos

    2017-07-06

    Mixed fluid phenomena in porous media have profound implications on soil-atmosphere interaction, energy geotechnology, environmental engineering and infrastructure design. Surface tension varies with pressure, temperature, solute concentration, and surfactant concentration; on the other hand, the contact angle responds to interfacial tensions, surface topography, invasion velocity, and chemical interactions. Interfaces are not isolated but interact through the fluid pressure and respond to external fields. Jumps, snap-offs and percolating wetting liquids along edges and crevices are ubiquitous in real, non-cylindrical porous networks. Pore- and macroscale instabilities together with pore structure variability-and-correlation favor fluid trapping and hinder recovery efficiency. The saturation-pressure characteristic curve is affected by the saturation-history, flow-rate, the mechanical response of the porous medium, and time-dependent reactive and diffusive processes; in addition, there are salient differences between unsaturation by internal gas nucleation and gas invasion. Capillary forces add to other skeletal forces in the porous medium and can generate open-mode discontinuities when the capillary entry pressure is high relative to the effective stress. Time emerges as an important variable in mixed-fluid conditions and common quasi-static analyses may fail to capture the system response.

  10. Equilibrium capillary forces with atomic force microscopy

    NARCIS (Netherlands)

    Sprakel, J.H.B.; Besseling, N.A.M.; Leermakers, F.A.M.; Cohen Stuart, M.A.

    2007-01-01

    We present measurements of equilibrium forces resulting from capillary condensation. The results give access to the ultralow interfacial tensions between the capillary bridge and the coexisting bulk phase. We demonstrate this with solutions of associative polymers and an aqueous mixture of gelatin

  11. Assembly for connecting the column ends of two capillary columns

    International Nuclear Information System (INIS)

    Kolb, B.; Auer, M.; Pospisil, P.

    1984-01-01

    In gas chromatography, the column ends of two capillary columns are inserted into a straight capillary from both sides forming annular gaps. The capillary is located in a tee out of which the capillary columns are sealingly guided, and to which carrier gas is supplied by means of a flushing flow conduit. A ''straight-forward operation'' having capillary columns connected in series and a ''flush-back operation'' are possible. The dead volume between the capillary columns can be kept small

  12. Sheathless interface for coupling capillary electrophoresis with mass spectrometry

    Science.gov (United States)

    Wang, Chenchen; Tang, Keqi; Smith, Richard D.

    2014-06-17

    A sheathless interface for coupling capillary electrophoresis (CE) with mass spectrometry is disclosed. The sheathless interface includes a separation capillary for performing CE separation and an emitter capillary for electrospray ionization. A portion of the emitter capillary is porous or, alternatively, is coated to form an electrically conductive surface. A section of the emitter capillary is disposed within the separation capillary, forming a joint. A metal tube, containing a conductive liquid, encloses the joint.

  13. Vasoactive intestinal polypeptide excites medial pontine reticular formation neurons in the brainstem rapid eye movement sleep-induction zone

    DEFF Research Database (Denmark)

    Kohlmeier, Kristi Anne; Reiner, P B

    1999-01-01

    Although it has long been known that microinjection of the cholinergic agonist carbachol into the medial pontine reticular formation (mPRF) induces a state that resembles rapid eye movement (REM) sleep, it is likely that other transmitters contribute to mPRF regulation of behavioral states. A key...... candidate is the peptide vasoactive intestinal polypeptide (VIP), which innervates the mPRF and induces REM sleep when injected into this region of the brainstem. To begin understanding the cellular mechanisms underlying this phenomenon, we examined the effects of VIP on mPRF cells using whole-cell patch...... conclude that VIP excites mPRF neurons by activation of a sodium current. This effect is mediated at least in part by G-protein stimulation of adenylyl cyclase, cAMP, and protein kinase A. These data suggest that VIP may play a physiological role in REM induction by its actions on mPRF neurons....

  14. Central pontine myelinolysis with a hyperintense lesion in diffusion weighted MRI: overview by means of a case report

    International Nuclear Information System (INIS)

    Kuhn, J.; Bewermeyer, H.; Harzheim, A.

    2005-01-01

    Central pontine myelinolysis (CPM) is a demyelinating disease of the pons often associated with demyelination of other areas of the central nervous system (CNS). The etiology and pathogenesis of this disorder are still not fully understood. However, almost all cases of CPM are related to severe diseases or chronic alcoholism and occur in the setting of rapidly corrected serum hyponatremia and hypotonicity respectively. Depending on the involvement of other CNS structures, the clinical picture can vary considerably. Magnetic resonance imaging is the most sensitive investigation for the antemortem diagnosis of CPM, although the radiological findings lag behind and do not necessarily correlate with the clinical picture. Quite obviously diffusion-weighted imaging can be useful in the rapid diagnosis of CPM. This short review summarizes the current knowledge on the pathogenesis, clinical presentation, radiological findings, prognosis and therapeutic approaches of CPM. Characteristical clinical features and MR-findings including hyperintensity on diffusion-weighted images are illustrated by a typical case. (orig.)

  15. The penetration of aerosols through fine capillaries

    International Nuclear Information System (INIS)

    Mitchell, J.P.; Edwards, R.T.; Ball, M.H.E.

    1989-10-01

    A novel experimental technique has been developed to study the penetration of aerosol particles ranging from about 1 to 15 μm aerodynamic diameter through capillaries varying from 20 to 80 μm bore and from 10 to 50 mm in length. When the driving pressure was 100 kPa, the penetration of the airborne particles was considerably smaller than expected from a simple comparison of particle diameter with the bore of the capillary. Particle size distributions determined after penetration through the capillaries were in almost all cases similar to the particle size distribution of the aerosol at the capillary entrance. This lack of size-selectivity can be explained in terms of the capillary behaving as a conventional suction-based sampler from a near still (calm) air environment. The resulting particle penetration data are important in assessing the potential for the leakage of aerosols through seals in containers used to transport radioactive materials. (author)

  16. Telangiectasia hemorrágica hereditária: ácido tranexâmico no tratamento de úlcera plantar Hereditary hemorrhagic telangiectasia: tranexamic acid for plantar ulcer

    Directory of Open Access Journals (Sweden)

    Gabriella Corrêa de Albuquerque

    2005-12-01

    Full Text Available Relato de um caso de úlcera plantar por fístula arteriovenosa em paciente portador de telangiectasia hemorrágica hereditária ou doença de Rendu-Osler-Weber tratado com ácido tranexâmico. Este fármaco é utilizado para tratamento de epistaxe, referindo-se o principal achado deste artigo ao uso eficaz desse medicamento na terapia de úlceras plantares hemorrágicas. São descritos os aspectos fisiopatológicos e clínicos da doença e as propriedades antifibrinolíticas do ácido tranexâmico. Este foi bem tolerado e apresentou evidências de eficácia na utilização para controle do sangramento e cicatrização da úlcera.Case report of one patient with Hereditary Hemorrhagic Telangiectasia, also known as Rendu-Osler-Weber syndrome, treated with Tranexamic Acid for arteriovenous plantar ulcer. This drug has proved effective in controlling epistaxis, but the main point of this report is to expose the success use of this medication in the therapy of skin bleeding ulcer. The pathophysiologic and clinical features of the disease are reviewed and also the pharmacological aspects of the antifibrinolytic drugs. This drug was well tolerated by the patient and show evidence of good activity in the bleeding and healed the ulcer.

  17. Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

    Science.gov (United States)

    Parisi, Pasquale; Persechino, Severino; Paolino, Maria Chiara; Nicita, Francesco; Torrente, Isabella; Bozzao, Alessandro; Villa, Maria Pia

    2013-02-11

    Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 'sporadic' and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability.

  18. Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

    Directory of Open Access Journals (Sweden)

    Parisi Pasquale

    2013-02-01

    Full Text Available Abstract Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113 and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye, 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are ‘sporadic’ and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability.

  19. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

  20. Capillary leak syndrome: etiologies, pathophysiology, and management.

    Science.gov (United States)

    Siddall, Eric; Khatri, Minesh; Radhakrishnan, Jai

    2017-07-01

    In various human diseases, an increase in capillary permeability to proteins leads to the loss of protein-rich fluid from the intravascular to the interstitial space. Although sepsis is the disease most commonly associated with this phenomenon, many other diseases can lead to a "sepsis-like" syndrome with manifestations of diffuse pitting edema, exudative serous cavity effusions, noncardiogenic pulmonary edema, hypotension, and, in some cases, hypovolemic shock with multiple-organ failure. The term capillary leak syndrome has been used to describe this constellation of disease manifestations associated with an increased capillary permeability to proteins. Diseases other than sepsis that can result in capillary leak syndrome include the idiopathic systemic capillary leak syndrome or Clarkson's disease, engraftment syndrome, differentiation syndrome, the ovarian hyperstimulation syndrome, hemophagocytic lymphohistiocytosis, viral hemorrhagic fevers, autoimmune diseases, snakebite envenomation, and ricin poisoning. Drugs including some interleukins, some monoclonal antibodies, and gemcitabine can also cause capillary leak syndrome. Acute kidney injury is commonly seen in all of these diseases. In addition to hypotension, cytokines are likely to be important in the pathophysiology of acute kidney injury in capillary leak syndrome. Fluid management is a critical part of the treatment of capillary leak syndrome; hypovolemia and hypotension can cause organ injury, whereas capillary leakage of administered fluid can worsen organ edema leading to progressive organ injury. The purpose of this article is to discuss the diseases other than sepsis that produce capillary leak and review their collective pathophysiology and treatment. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  1. Two-dimensional capillary electrophoresis: capillary isoelectric focusing and capillary zone electrophoresis with laser-induced fluorescence detection

    Science.gov (United States)

    Dickerson, Jane A.; Ramsay, Lauren M.; Dada, Oluwatosin O.; Cermak, Nathan

    2011-01-01

    Capillary isoelectric focusing and capillary zone electrophoresis are coupled with laser-induced fluorescence detection to create an ultrasensitive two-dimensional separation method for proteins. In this method, two capillaries are joined through a buffer filled interface. Separate power supplies control the potential at the injection end of the first capillary and at the interface; the detector is held at ground potential. Proteins are labeled with the fluorogenic reagent Chromeo P503, which preserves the isoelectric point of the labeled protein. The labeled proteins were mixed with ampholytes and injected into the first dimension capillary. A focusing step was performed with the injection end of the capillary at high pH and the interface at low pH. To mobilize components, the interface was filled with a high pH buffer, which was compatible with the second dimension separation. A fraction was transferred to the second dimension capillary for separation. The process of fraction transfer and second dimension separation was repeated two dozen times. The separation produced a spot capacity of 125. PMID:20603830

  2. Microwave discharges in capillary tubes

    International Nuclear Information System (INIS)

    Dervisevic, Emil

    1984-01-01

    This research thesis aims at being a contribution to the study of microwave discharge by a surface wave, and more precisely focusses on the discharge in capillary tubes filled with argon. The author first present theoretical models which describe, on the one hand, the propagation of the surface wave along the plasma column, and, on the other hand, longitudinal and radial profiles of the main discharge characteristics. The second part addresses the study of the influence of parameters (gas pressure and tube radius) on discharge operation and characteristics. Laws of similitude as well as empirical relationships between argon I and argon II emission line intensities, electron density, and electric field in the plasma have been established [fr

  3. The effects of epistaxis on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Merlo, Christian A; Yin, Linda X; Hoag, Jeffrey B; Mitchell, Sally E; Reh, Douglas D

    2014-11-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease mainly characterized by epistaxis in more than 96% of patients. Recently, a validated questionnaire known as the HHT Epistaxis Severity Score (ESS) was developed. However, little is known about the relationship between epistaxis and quality of life. We hypothesize that epistaxis severity is a major factor predicting health-related quality of life (HR-QoL) in HHT patients. This is a cross-sectional study. The ESS questionnaire and Medical Outcomes Study 36-item short form (SF-36) were administered to subjects through an Internet survey. All participants had a definitive diagnosis of HHT through Curaçao criteria or genetic testing. Demographic information, genetics, and extensive histories were also collected. Descriptive analyses were performed with calculations of means and standard deviations (SDs) for continuous variables and proportions for categorical variables. Linear regressions were then performed to assess the association between HR-QoL and ESS. A total of 604 subjects participated between April and August 2008. All patients reported epistaxis, 285 (47.2%) had telangiectasias, and 545 (90.2%) had a family history of HHT; 167 (27.6%) patients had mild epistaxis (ESS epistaxis (≥4 ESS epistaxis (ESS ≥7). Patients with severe epistaxis had lower scores for both the Physical Component Summary (PCS) and the Mental Component Summary (MCS) of HR-QoL when compared to those with mild epistaxis (p epistaxis. © 2014 ARS-AAOA, LLC.

  4. Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia.

    Directory of Open Access Journals (Sweden)

    Eun-Jung Choi

    Full Text Available Endoglin (ENG is a causative gene of type 1 hereditary hemorrhagic telangiectasia (HHT1. HHT1 patients have a higher prevalence of brain arteriovenous malformation (AVM than the general population and patients with other HHT subtypes. The pathogenesis of brain AVM in HHT1 patients is currently unknown and no specific medical therapy is available to treat patients. Proper animal models are crucial for identifying the underlying mechanisms for brain AVM development and for testing new therapies. However, creating HHT1 brain AVM models has been quite challenging because of difficulties related to deleting Eng-floxed sequence in Eng(2fl/2fl mice. To create an HHT1 brain AVM mouse model, we used several Cre transgenic mouse lines to delete Eng in different cell-types in Eng(2fl/2fl mice: R26CreER (all cell types after tamoxifen treatment, SM22α-Cre (smooth muscle and endothelial cell and LysM-Cre (lysozyme M-positive macrophage. An adeno-associated viral vector expressing vascular endothelial growth factor (AAV-VEGF was injected into the brain to induce focal angiogenesis. We found that SM22α-Cre-mediated Eng deletion in the embryo caused AVMs in the postnatal brain, spinal cord, and intestines. Induction of Eng deletion in adult mice using R26CreER plus local VEGF stimulation induced the brain AVM phenotype. In both models, Eng-null endothelial cells were detected in the brain AVM lesions, and formed mosaicism with wildtype endothelial cells. However, LysM-Cre-mediated Eng deletion in the embryo did not cause AVM in the postnatal brain even after VEGF stimulation. In this study, we report two novel HHT1 brain AVM models that mimic many phenotypes of human brain AVM and can thus be used for studying brain AVM pathogenesis and testing new therapies. Further, our data indicate that macrophage Eng deletion is insufficient and that endothelial Eng homozygous deletion is required for HHT1 brain AVM development.

  5. Phospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia

    Directory of Open Access Journals (Sweden)

    Majid Zaki dizaji

    2016-12-01

    Full Text Available BackgroundAtaxia telangiectasia (A-T is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult.  In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to ionizing radiation (IR, atherosclerosis, diabetes, and cancers. We used SMC1pSer966 (pSMC1 in-cell colorimetric ELISA to diagnosis and screen in A-T families.Materials and Methods: With informed consent, 2cc peripheral blood was collected from the 15 A-T patients, their parents, and 24 healthy controls with no family history of malignancy, diabetes, and atherosclerosis. Extracted peripheral blood mononuclear cells (PBMCs were cultured in poly-L-Lysine treated 96-well plate with density of 70,000 cells per well. SMC1 phosphorylation was evaluated with cell-based ELISA kit 1 hour after 5 Gy IR and the pSMC1data normalized with Glyceraldehyde-3-phosphate dehydrogenase (GAPDH.Results: SMC1 phosphorylation was significantly low in A-T`s PBMC (mean + standard deviation [SD]: 0.075 + 0.034 in comparison to carriers (mean + SD: 0.190 + 0.060 and healthy controls (mean + SD: 0.312 +0.081, but unluckily could only discriminate A-T patients (Area Under the Curve -receiver operating characteristic [AUC-ROC]: 1.00, 1.00-1.00. This method in spite of rapidness and simplicity showed poor imprecision (22.49% coefficient of variation [CV] for intraday imprecision.Conclusion: It seems pSMC1 assessment by in-cell ELISA can be used for detection of A-T patients, but it may not sensitive enough for identification of carriers. This ELISA test is very simple, rapid, and requires less than 2cc blood. Thus it may be proposed for the early differential diagnosis of A-T as an alternative method.

  6. Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.

    Science.gov (United States)

    Renault, Anne-Laure; Mebirouk, Noura; Cavaciuti, Eve; Le Gal, Dorothée; Lecarpentier, Julie; d'Enghien, Catherine Dubois; Laugé, Anthony; Dondon, Marie-Gabrielle; Labbé, Martine; Lesca, Gaetan; Leroux, Dominique; Gladieff, Laurence; Adenis, Claude; Faivre, Laurence; Gilbert-Dussardier, Brigitte; Lortholary, Alain; Fricker, Jean-Pierre; Dahan, Karin; Bay, Jacques-Olivier; Longy, Michel; Buecher, Bruno; Janin, Nicolas; Zattara, Hélène; Berthet, Pascaline; Combès, Audrey; Coupier, Isabelle; Hall, Janet; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne

    2017-10-01

    Recent studies have linked constitutive telomere length (TL) to aging-related diseases including cancer at different sites. ATM participates in the signaling of telomere erosion, and inherited mutations in ATM have been associated with increased risk of cancer, particularly breast cancer. The goal of this study was to investigate whether carriage of an ATM mutation and TL interplay to modify cancer risk in ataxia-telangiectasia (A-T) families.The study population consisted of 284 heterozygous ATM mutation carriers (HetAT) and 174 non-carriers (non-HetAT) from 103 A-T families. Forty-eight HetAT and 14 non-HetAT individuals had cancer, among them 25 HetAT and 6 non-HetAT were diagnosed after blood sample collection. We measured mean TL using a quantitative PCR assay and genotyped seven single-nucleotide polymorphisms (SNPs) recurrently associated with TL in large population-based studies.HetAT individuals were at increased risk of cancer (OR = 2.3, 95%CI = 1.2-4.4, P = 0.01), and particularly of breast cancer for women (OR = 2.9, 95%CI = 1.2-7.1, P = 0.02), in comparison to their non-HetAT relatives. HetAT individuals had longer telomeres than non-HetAT individuals (P = 0.0008) but TL was not associated with cancer risk, and no significant interaction was observed between ATM mutation status and TL. Furthermore, rs9257445 (ZNF311) was associated with TL in HetAT subjects and rs6060627 (BCL2L1) modified cancer risk in HetAT and non-HetAT women.Our findings suggest that carriage of an ATM mutation impacts on the age-related TL shortening and that TL per se is not related to cancer risk in ATM carriers. TL measurement alone is not a good marker for predicting cancer risk in A-T families. © The Author 2017. Published by Oxford University Press.

  7. Capillary condensation between disks in two dimensions

    DEFF Research Database (Denmark)

    Gil, Tamir; Ipsen, John Hjorth

    1997-01-01

    Capillary condensation between two two-dimensional wetted circular substrates (disks) is studied by an effective free energy description of the wetting interface. The interfacial free-energy potential is developed on the basis of the theory for the wetting of a single disk, where interfacial...... capillary fluctuations play a dominant role. A simple approximative analytical expression of the interfacial free energy is developed and is validated numerically. The capillary condensation is characterized by the analysis of the coverage of the condensed phase, its stability, and asymptotic behaviors...

  8. Nanoparticle-based capillary electroseparation of proteins in polymer capillaries under physiological conditions

    DEFF Research Database (Denmark)

    Nilsson, C.; Harwigsson, I.; Becker, K.

    2010-01-01

    Totally porous lipid-based liquid crystalline nanoparticles were used as pseudostationary phase for capillary electroseparation with LIF detection of proteins at physiological conditions using unmodified cyclic olefin copolymer capillaries (Topas (R), 6.7 cm effective length). In the absence of n...... at protein friendly conditions. The developed capillary-based method facilitates future electrochromatography of proteins on polymer-based microchips under physiological conditions and enables the initial optimization of separation conditions in parallel to the chip development....

  9. Capillary detectors for high resolution tracking

    International Nuclear Information System (INIS)

    Annis, P.; Bay, A.; Bonekaemper, D.; Buontempo, S.; Ereditato, A.; Fabre, J.P.; Fiorillo, G.; Frekers, D.; Frenkel, A.; Galeazzi, F.; Garufi, F.; Goldberg, J.; Golovkin, S.; Hoepfner, K.; Konijn, J.; Kozarenko, E.; Kreslo, I.; Liberti, B.; Martellotti, G.; Medvedkov, A.; Mommaert, C.; Panman, J.; Penso, G.; Petukhov, Yu.; Rondeshagen, D.; Tyukov, V.; Vasilchenko, V.; Vilain, P.; Vischers, J.L.; Wilquet, G.; Winter, K.; Wolff, T.; Wong, H.

    1997-01-01

    We present a new tracking device based on glass capillary bundles or layers filled with highly purified liquid scintillator and read out at one end by means of image intensifiers and CCD devices. A large-volume prototype consisting of 5 x 10 5 capillaries with a diameter of 20 μm and a length of 180 cm and read out by a megapixel CCD has been tested with muon and neutrino beams at CERN. With this prototype a two track resolution of 33 μm was achieved with passing through muons. Images of neutrino interactions in a capillary bundle have also been acquired and analysed. Read-out chains based on electron bombarded CCD (EBCCD) and image pipeline devices are also investigated. Preliminary results obtained with a capillary bundle read out by an EBCCD are presented. (orig.)

  10. Capillary detectors for high resolution tracking

    CERN Document Server

    Annis, P

    1997-01-01

    We present a new tracking device based on glass capillary bundles or layers filled with highly purified liquid scintillator and read out at one end by means of image intensifiers and CCD devices. A large-volume prototype consisting of 5 × 105 capillaries with a diameter of 20 μm and a length of 180 cm and read out by a megapixel CCD has been tested with muon and neutrino beams at CERN. With this prototype a two track resolution of 33 μm was achieved with passing through muons. Images of neutrino interactions in a capillary bundle have also been acquired and analysed. Read-out chains based on Electron Bombarded CCD (EBCCD) and image pipeline devices are also investigated. Preliminary results obtained with a capillary bundle read out by an EBCCD are presented.

  11. Microgravity Investigation of Capillary Driven Imbibition

    Science.gov (United States)

    Dushin, V. R.; Nikitin, V. F.; Smirnov, N. N.; Skryleva, E. I.; Tyurenkova, V. V.

    2018-05-01

    The goal of the present paper is to investigate the capillary driven filtration in porous media under microgravity conditions. New mathematical model that allows taking into account the blurring of the front due to the instability of the displacement that is developing at the front is proposed. The constants in the mathematical model were selected on the basis of the experimental data on imbibition into unsaturated porous media under microgravity conditions. The flow under the action of a combination of capillary forces and a constant pressure drop or a constant flux is considered. The effect of capillary forces and the type of wettability of the medium on the displacement process is studied. A criterion in which case the capillary effects are insignificant and can be neglected is established.

  12. Characterization of asphaltenes by nonaqueous capillary electrophoresis

    NARCIS (Netherlands)

    Kok, W.T.; Tüdös, A.J.; Grutters, M.; Shepherd, A.G.

    2011-01-01

    Nonaqueous capillary electrophoresis was used for the separation and characterization of asphaltene samples from different sources. For the separation medium (background electrolyte), mixtures of tetrahydrofuran and a high-permittivity organic solvent could be used. The best results were obtained

  13. Hierarchical capillary adhesion of microcantilevers or hairs

    International Nuclear Information System (INIS)

    Liu Jianlin; Feng Xiqiao; Xia Re; Zhao Hongping

    2007-01-01

    As a result of capillary forces, animal hairs, carbon nanotubes or nanowires of a periodically or randomly distributed array often assemble into hierarchical structures. In this paper, the energy method is adopted to analyse the capillary adhesion of microsized hairs, which are modelled as clamped microcantilevers wetted by liquids. The critical conditions for capillary adhesion of two hairs, three hairs or two bundles of hairs are derived in terms of Young's contact angle, elastic modulus and geometric sizes of the beams. Then, the hierarchical capillary adhesion of hairs is addressed. It is found that for multiple hairs or microcantilevers, the system tends to take a hierarchical structure as a result of the minimization of the total potential energy of the system. The level number of structural hierarchy increases with the increase in the number of hairs if they are sufficiently long. Additionally, we performed experiments to verify our theoretical solutions for the adhesion of microbeams

  14. Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Meschini, Roberta, E-mail: meschini@unitus.it; Morucci, Elisa; Berni, Andrea; Lopez-Martinez, Wilner; Palitti, Fabrizio

    2015-07-15

    Highlights: • Role of chromatin compaction on chromosomal instability. • Reduced radiation-induced clastogenicity in Ataxia telangiectasia cell lines. • Histone tails hyperacetylation reduces heterochromatin content favouring DSBs repair. - Abstract: At present, a lot is known about biochemical aspects of double strand breaks (DBS) repair but how chromatin structure affects this process and the sensitivity of DNA to DSB induction is still an unresolved question. Ataxia telangiectasia (A-T) patients are characterised by very high sensitivity to DSB-inducing agents such as ionising radiation. This radiosensitivity is revealed with an enhancement of chromosomal instability as a consequence of defective DNA repair for a small fraction of breaks located in the heterochromatin, where they are less accessible. Besides, recently it has been reported that Ataxia Telangiectasia Mutated (ATM) mediated signalling modifies chromatin structure. In order to study the impact of chromatin compaction on the chromosomal instability of A-T cells, the response to trichostatin-A, an histone deacetylase inhibitor, in normal and A-T lymphoblastoid cell lines was investigated testing its effect on chromosomal aberrations, cell cycle progression, DNA damage and repair after exposure to X-rays. The results suggest that the response to both trichostatin-A pre- and continuous treatments is independent of the presence of either functional or mutated ATM protein, as the reduction of chromosomal damage was found also in the wild-type cell line. The presence of trichostatin-A before exposure to X-rays could give rise to prompt DNA repair functioning on chromatin structure already in an open conformation. Differently, trichostatin-A post-treatment causing hyperacetylation of histone tails and reducing the heterochromatic DNA content might diminish the requirement for ATM and favour DSBs repair reducing chromosomal damage only in A-T cells. This fact could suggest that trichostatin-A post

  15. Vulvar Lobular Capillary Hemangioma (Pyogenic Granuloma

    Directory of Open Access Journals (Sweden)

    Kian-Mei Chong

    2005-03-01

    Conclusion: Pyogenic granuloma is considered a reactive hyperproliferative vascular response to trauma or other stimuli. The name “pyogenic granuloma” is a misnomer since the condition is not associated with pus and does not represent a granuloma histologically. There are a few cases of lobular capillary hemangioma of the glans penis but it is rare on the female genitalia. We present this case to help physicians become aware that lobular capillary hemangiomas may occur at this site.

  16. Simulation of capillary bridges between nanoscale particles.

    Science.gov (United States)

    Dörmann, Michael; Schmid, Hans-Joachim

    2014-02-04

    Capillary forces are very important as they exceed in general other adhesion forces. But at the same time the exact calculation of these forces is very complex, so often assumptions and approximations are used. Previous research was done with regard to micrometer sized particles, but the behavior of nanoscale particles is different. Hence, the results for micrometer sized particles cannot be directly transferred when considering nanoscale particles. Therefore, a simulation method was developed to calculate numerically the shape of a rotationally symmetrical capillary bridge between two spherical particles or a particle and a plate. The capillary bridge in the gap between the particles is formed due to capillary condensation and is in thermodynamic equilibrium with the gas phase. Hence the Kelvin equation and the Young-Laplace equation can be used to calculate the profile of the capillary bridge, depending on the relative humidity of the surrounding air. The bridge profile consists of several elements that are determined consecutively and interpolated linearly. After the shape is determined, the volume and force, divided into capillary pressure force and surface tension force, can be calculated. The validation of this numerical model will be shown by comparison with several different analytical calculations for micrometer-sized particles. Furthermore, it is demonstrated that two often used approximations, (1) the toroidal approximation and (2) the use of an effective radius, cannot be used for nanoscale particles without remarkable mistake. It will be discussed how the capillary force and its components depend on different parameters, like particle size, relative humidity, contact angle, and distance, respectively. The rupture of a capillary bridge due to particle separation will also be presented.

  17. DNA Sequencing by Capillary Electrophoresis

    Science.gov (United States)

    Karger, Barry L.; Guttman, Andras

    2009-01-01

    Sequencing of human and other genomes has been at the center of interest in the biomedical field over the past several decades and is now leading toward an era of personalized medicine. During this time, DNA sequencing methods have evolved from the labor intensive slab gel electrophoresis, through automated multicapillary electrophoresis systems using fluorophore labeling with multispectral imaging, to the “next generation” technologies of cyclic array, hybridization based, nanopore and single molecule sequencing. Deciphering the genetic blueprint and follow-up confirmatory sequencing of Homo sapiens and other genomes was only possible by the advent of modern sequencing technologies that was a result of step by step advances with a contribution of academics, medical personnel and instrument companies. While next generation sequencing is moving ahead at break-neck speed, the multicapillary electrophoretic systems played an essential role in the sequencing of the Human Genome, the foundation of the field of genomics. In this prospective, we wish to overview the role of capillary electrophoresis in DNA sequencing based in part of several of our articles in this journal. PMID:19517496

  18. Cell adhesion during bullet motion in capillaries.

    Science.gov (United States)

    Takeishi, Naoki; Imai, Yohsuke; Ishida, Shunichi; Omori, Toshihiro; Kamm, Roger D; Ishikawa, Takuji

    2016-08-01

    A numerical analysis is presented of cell adhesion in capillaries whose diameter is comparable to or smaller than that of the cell. In contrast to a large number of previous efforts on leukocyte and tumor cell rolling, much is still unknown about cell motion in capillaries. The solid and fluid mechanics of a cell in flow was coupled with a slip bond model of ligand-receptor interactions. When the size of a capillary was reduced, the cell always transitioned to "bullet-like" motion, with a consequent decrease in the velocity of the cell. A state diagram was obtained for various values of capillary diameter and receptor density. We found that bullet motion enables firm adhesion of a cell to the capillary wall even for a weak ligand-receptor binding. We also quantified effects of various parameters, including the dissociation rate constant, the spring constant, and the reactive compliance on the characteristics of cell motion. Our results suggest that even under the interaction between P-selectin glycoprotein ligand-1 (PSGL-1) and P-selectin, which is mainly responsible for leukocyte rolling, a cell is able to show firm adhesion in a small capillary. These findings may help in understanding such phenomena as leukocyte plugging and cancer metastasis. Copyright © 2016 the American Physiological Society.

  19. Gamma-ray induced inhibition of DNA synthesis in ataxia telangiectasia fibroblasts is a function of excision repair capacity

    International Nuclear Information System (INIS)

    Smith, P.J.; Paterson, M.C.

    1980-01-01

    The extent of the deficiency in γ-ray induced DNA repair synthesis in an ataxia telangiectasia (AT) human fibroblast strain was found to show no oxygen enhancement, consistent with a defect in the repair of base damage. Repair deficiency, but not repair proficiency, in AT cells was accompanied by a lack of inhibition of DNA synthesis by either γ-rays or the radiomimetic drug bleomycin. Experiments with 4-nitroquinoline 1-oxide indicated that lack of inhibition was specific for radiogenic-type damage. Thus excision repair, perhaps by DNA strand incision or chromatin modification, appears to halt replicon initiation in irradiated repair proficient cells whereas in repair defective AT strains this putatively important biological function is inoperative

  20. Murine scid cells complement ataxia-telangiectasia cells and show a normal port-irradiation response of DNA synthesis

    International Nuclear Information System (INIS)

    Komatsu, K.; Yoshida, M.; Okumura, Y.

    1993-01-01

    The murine severe combined immunodeficient mutation (scid) is characterized by a lack of both B and T cells, due to a deficit in lymphoid variable-(diversity)-joining (V(D)J) rearrangement. Scid cells are highly sensitive to both radiation-induced killing and chromosomal aberrations. Significantly reduced D 0 and n values were demonstrated in scid cells and were similar to ataxia-telangiectasia (AT) cells (a unique human disease conferring whole body radiosensitivity). However, the kinetics of DNA synthesis after irradiation were different between the two cell types. In contrast with the radioresistant DNA synthesis of AT cells, DNA synthesis of scid cells was markedly inhibited after irradiation. The existence of different mutations was also supported by evidence of complementation in somatic cell hybrids between scid cells and AT cells. Results indicate that the radiobiological character of scid is similar to AT but is presumably caused by different mechanisms. (author)

  1. Effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study

    International Nuclear Information System (INIS)

    Pritchard, J.; Sandland, M.R.; Breatnach, F.B.; Pincott, J.R.; Cox, R.; Husband, P.

    1982-01-01

    Stage I lymphocyte-predominant Hodgkin's disease was diagnosed in a 44-month-old girl. Although immune deficiency was suspected and IgA deficiency demonstrated, the diagnosis of an ataxia-telangiectasia (AT)-like syndrome was not confirmed until eight weeks later when results of studies on the radiosensitivity of cultured skin fibroblasts were available. The child had none of the usual physical stigmata of AT. Severe acute radiation damage followed the treatment of this child with standard doses of radiation therapy. Clinical, pathologic, and radiobiologic correlations are drawn. The diagnosis of a malignant lymphoma disorder in children under the age of five should alert clinicians to the possibility of immune deficiency and, even in the absence of classical physical signs, to AT in particular. Suggestions for the management of future similar cases are put forward

  2. The production and repair of double strand breaks in cells from normal humans and patients with ataxia telangiectasia

    International Nuclear Information System (INIS)

    Lehman, A.R.; Stevens, S.

    1977-01-01

    The production and repair of double strand breaks induced by γ-rays in the DNA of human fibroblasts have been measured by sedimentation in sucrose gradients under non-denaturing conditions. Unirradiated DNA formed a rapidly sedimenting gel. Low doses of radiation released freely sedimenting DNA molecules from this gel. Higher doses reduced the rate of sedimentation of the free DNA due to the introduction of double strand breaks. The breakage efficiency was 1 break/1.3x10 10 daltons of DNA/krad. Postirradiation incubation after a high dose of radiation resulted in an increase in molecular weight of the free DNA molecules, and after a low dose the rapidly-sedimenting gel was reformed. These data suggest that double strand breaks are repaired in human fibroblasts. No significant differences were found between fibroblasts from two normal donors and four patients with the radiosensitive disorder, ataxia telangiectasia, in either the production or repair of double strand breaks

  3. Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Tau, Noam, E-mail: taunoam@gmail.com; Atar, Eliyahu [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Mei-Zahav, Meir [Schneider Children’s Medical Center of Israel, Department of Pulmonology and National HHT Center (Israel); Bachar, Gil N. [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Dagan, Tamir; Birk, Einat; Bruckheimer, Elchanan [Schneider Children’s Medical Center of Israel, Institute of Pediatric Cardiology (Israel)

    2016-08-15

    PurposeCoil embolization of pulmonary arteriovenous malformations (PAVMs) has a high re-canalization/re-perfusion rate. Embolization with Amplatzer plugs has been previously described, but the long-term efficacy is not established. This study reports the experience of a referral medical center with the use of coils and Amplatzer plugs for treating PAVMs in patients with hereditary hemorrhagic telangiectasia.MethodsThe study was approved by the Institutional Review Board with waiver of informed consent. The cohort included all patients who underwent PAVM embolization in 2004–2014 for whom follow-up imaging scans were available. The medical files were retrospectively reviewed for background data, embolization method (coils, Amplatzer plugs, both), and complications. Re-canalization of treated PAVMs was assessed from intrapulmonary angiograms (following percutaneous procedures) or computed tomography angiograms. Fisher’s exact test and Pearson Chi-squared test or t test were used for statistical analysis, with significance at p < 0.05.Results16 patients met the study criteria. Imaging scans were available for 63 of the total 110 PAVMs treated in 41 procedures. Coils were used for embolization in 37 PAVMs, Amplatzer plugs in 21, and both in five. Median follow-up time was 7.7 years (range 1.4–18.9). Re-canalization was detected in seven vessels, all treated with coils; there were no cases of re-canalization in plug-occluded vessels (p = 0.0413).ConclusionThe use of Amplatzer plugs for the embolization of PAVMs in patients with hemorrhagic telangiectasia is associated with a significantly lower rate of re-canalization of feeding vessels than coils. Long-term prospective studies are required to confirm these findings.

  4. Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

    International Nuclear Information System (INIS)

    Tau, Noam; Atar, Eliyahu; Mei-Zahav, Meir; Bachar, Gil N.; Dagan, Tamir; Birk, Einat; Bruckheimer, Elchanan

    2016-01-01

    PurposeCoil embolization of pulmonary arteriovenous malformations (PAVMs) has a high re-canalization/re-perfusion rate. Embolization with Amplatzer plugs has been previously described, but the long-term efficacy is not established. This study reports the experience of a referral medical center with the use of coils and Amplatzer plugs for treating PAVMs in patients with hereditary hemorrhagic telangiectasia.MethodsThe study was approved by the Institutional Review Board with waiver of informed consent. The cohort included all patients who underwent PAVM embolization in 2004–2014 for whom follow-up imaging scans were available. The medical files were retrospectively reviewed for background data, embolization method (coils, Amplatzer plugs, both), and complications. Re-canalization of treated PAVMs was assessed from intrapulmonary angiograms (following percutaneous procedures) or computed tomography angiograms. Fisher’s exact test and Pearson Chi-squared test or t test were used for statistical analysis, with significance at p < 0.05.Results16 patients met the study criteria. Imaging scans were available for 63 of the total 110 PAVMs treated in 41 procedures. Coils were used for embolization in 37 PAVMs, Amplatzer plugs in 21, and both in five. Median follow-up time was 7.7 years (range 1.4–18.9). Re-canalization was detected in seven vessels, all treated with coils; there were no cases of re-canalization in plug-occluded vessels (p = 0.0413).ConclusionThe use of Amplatzer plugs for the embolization of PAVMs in patients with hemorrhagic telangiectasia is associated with a significantly lower rate of re-canalization of feeding vessels than coils. Long-term prospective studies are required to confirm these findings.

  5. Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature.

    Science.gov (United States)

    Boumis, Evangelo; Capone, Alessandro; Galati, Vincenzo; Venditti, Carolina; Petrosillo, Nicola

    2018-02-01

    In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their potential pathogenic role in patients with particular predisposing factors. Patients with hereditary hemorrhagic telangiectasia (HHT) are exposed to infections because of telangiectasias and arteriovenous malformations (AVMs). We describe what is, to our knowledge, the first case of infective endocarditis (IE) caused by Lactobacillus rhamnosus in a patient with HHT. A systematic review of the relevant medical literature is presented. A patient with HHT and an aortic bioprosthesis was admitted because of prolonged fever not responding to antibiotics. The patient had a history of repeated serious infections with hospitalizations and prolonged use of antibiotics, and used to assume large amounts of different commercial products containing probiotics. Weeks before the onset of symptoms the patient had been treated with nasal packings and with surgical closure of a nasal bleeding site because of recurrent epistaxis. A diagnosis of IE of the aortic bioprosthesis was made. All blood coltures were positive for L. rhamnosus. The patients responded to a cycle of 6 weeks of amoxicillin/clavulanate plus gentamicin. A systematic review of IE linked to consumption of probiotics, and of infective endocarditis in patients with HHT was conducted. 10 cases of IE linked to probiotics consumption and 6 cases of IE in patients with HHT were found. Consumption of probiotics can pose a risk of serious infections in patients with particular predisposing factors. Patients with HHT can be considered at risk because of their predisposition to infections. Prophylaxis with antibiotics before nasal packings in patients with HHT can be considered.

  6. Impaired skin capillary recruitment in essential hypertension is caused by both functional and structural capillary rarefaction

    NARCIS (Netherlands)

    Serne, EH; Gans, ROB; ter Maaten, JC; Tangelder, GJ; Donker, AJM; Stehouwer, CDA

    Capillary rarefaction occurs in many tissues in patients with essential hypertension and may contribute to an increased vascular resistance and impaired muscle metabolism. Rarefaction may be caused by a structural (anatomic) absence of capillaries, functional nonperfusion, or both. The aim of this

  7. Monoliths in capillary electrochromatography and capillary liquid chromatography in conjunction with mass spectrometry

    Czech Academy of Sciences Publication Activity Database

    Moravcová, Dana; Rantamäki, A. H.; Duša, Filip; Wiedmer, S. K.

    2016-01-01

    Roč. 37, 7-8 (2016), s. 880-912 ISSN 0173-0835 Institutional support: RVO:68081715 Keywords : capillary electrochromatography * capillary liquid chromatography * mass spec- trometry * monolithic columns Subject RIV: CB - Analytical Chemistry, Separation Impact factor: 2.744, year: 2016

  8. REM sleep enhancement and behavioral cataplexy following orexin (hypocretin)-II receptor antisense perfusion in the pontine reticular formation.

    Science.gov (United States)

    Thakkar, M M; Ramesh, V; Cape, E G; Winston, S; Strecker, R E; McCarley, R W

    1999-01-01

    Orexin (hypocretin)-containing neurons of the hypothalamus project to brainstem sites that are involved in the neural control of REM sleep, including the locus coeruleus, the dorsal raphe nucleus, the cholinergic zone of the mesopontine tegmentum, and the pontine reticular formation (PRF). Orexin knockout mice exhibit narcolepsy/cataplexy, and a mutant and defective gene for the orexin type II receptor is present in dogs with an inherited form of narcolepsy/cataplexy. However, the physiological systems mediating these effects have not been described. We reasoned that, since the effector neurons for the majority of REM sleep signs, including muscle atonia, were located in the PRF, this region was likely implicated in the production of these orexin-related abnormalities. To test this possibility, we used microdialysis perfusion of orexin type II receptor antisense in the PRF of rats. Ten to 24 hours after antisense perfusion, REM sleep increased two- to three-fold during both the light period (quiescent phase) and the dark period (active phase), and infrared video showed episodes of behavioral cataplexy. Moreover, preliminary data indicated no REM-related effects following perfusion with nonsense DNA, or when perfusion sites were outside the PRF. More work is needed to provide precise localization of the most effective site of orexin-induced inhibition of REM sleep phenomena.

  9. Modeling aerobic biodegradation in the capillary fringe.

    Science.gov (United States)

    Luo, Jian; Kurt, Zohre; Hou, Deyi; Spain, Jim C

    2015-02-03

    Vapor intrusion from volatile subsurface contaminants can be mitigated by aerobic biodegradation. Laboratory column studies with contaminant sources of chlorobenzene and a mixture of chlorobenzene, 1,2-dichlorobenzene, and 1,4-dichlorobenzene showed that contaminants were rapidly degraded in thin reactive zones with high biomass and low substrate concentrations in the vicinity of the capillary fringe. Such behavior was well characterized by a model that includes oxygen-, substrate-, and biomass-dependent biodegradation kinetics along with diffusive transport processes. An analytical solution was derived to provide theoretical support for the simplification of reaction kinetics and the approximation of reactive zone location and mass flux relationships at steady state. Results demonstrate the potential of aerobic natural attenuation in the capillary fringe for preventing contaminant migration in the unsaturated zone. The solution indicates that increasing contaminant mass flux into the column creates a thinner reactive zone and pushes it toward the oxygen boundary, resulting in a shorter distance to the oxygen source and a larger oxygen mass flux that balances the contaminant mass flux. As a consequence, the aerobic biodegradation can reduce high contaminant concentrations to low levels within the capillary fringe and unsaturated zone. The results are consistent with the observations of thin reactive layers at the interface in unsaturated zones. The model considers biomass while including biodegradation in the capillary fringe and unsaturated zone and clearly demonstrates that microbial communities capable of using the contaminants as electron donors may lead to instantaneous degradation kinetics in the capillary fringe and unsaturated zone.

  10. Micro-injector for capillary electrophoresis.

    Science.gov (United States)

    Sáiz, Jorge; Koenka, Israel Joel; García-Ruiz, Carmen; Müller, Beat; Chwalek, Thomas; Hauser, Peter C

    2015-08-01

    A novel micro-injector for capillary electrophoresis for the handling of samples with volumes down to as little as 300 nL was designed and built in our laboratory for analyses in which the available volume is a limitation. The sample is placed into a small cavity located directly in front of the separation capillary, and the injection is then carried out automatically by controlled pressurization of the chamber with compressed air. The system also allows automated flushing of the injection chamber as well as of the capillary. In a trial with a capillary electrophoresis system with contactless conductivity detector, employing a capillary of 25 μm diameter, the results showed good stability of migration times and peak areas. To illustrate the technique, the fast separation of five inorganic cations (Na(+) , K(+) , NH4 (+) , Ca(2+) , and Mg(2+) ) was set up. This could be achieved in less than 3 min, with good limits of detection (10 μM) and linear ranges (between about 10 and 1000 μM). The system was demonstrated for the determination of the inorganic cations in porewater samples of a lake sediment core. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  11. Recent applications of nanomaterials in capillary electrophoresis.

    Science.gov (United States)

    González-Curbelo, Miguel Ángel; Varela-Martínez, Diana Angélica; Socas-Rodríguez, Bárbara; Hernández-Borges, Javier

    2017-10-01

    Nanomaterials have found an important place in Analytical Chemistry and, in particular, in Separation Science. Among them, metal-organic frameworks, magnetic and non-magnetic nanoparticles, carbon nanotubes and graphene, as well as their combinations, are the most important nanomaterials that have been used up to now. Concerning capillary electromigration techniques, these nanomaterials have also been used as both pseudostationary phases in electrokinetic chromatography (EKC) and as stationary phases in microchip capillary electrophoresis (CE) and capillary electrochromatography (CEC), as a result of their interesting and particular properties. This review article pretends to provide a general and critical revision of the most recent applications of nanomaterials in this field (period 2010-2017). © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  12. Capillary interactions in nano-particle suspensions

    International Nuclear Information System (INIS)

    Bossev, D.P.; Warren, G.

    2009-01-01

    We have investigated the structures formed by colloidal particles suspended in solvents at volume fractions below 10% and interacting through capillary bridges. Such systems resemble colloidal gas of sticky nano-spheres that form pearl-necklace like chains that, in turn, induce strong viscoelasticity due to the formation of 3-D fractal network. The capillary force dominates the electrostatic and Van der Waals forces in solutions and can bridge multiple particles depending of the volume of the capillary bridge. We have investigated the morphology of the structures formed at different fractions of the bridging fluid. Small-angle neutron scattering (SANS) is used to study nanoparticles with an average diameter of 10 nm in polar and non-polar organic solvents at ambient temperatures. SANS intensity as a function of the scattering vector is analyzed as a product of a form factor, that depends on the particle shape, and a structure factor, that characterizes the interparticle inter reactions. The interaction of particles in polar solvents is considered to be through electrostatic repulsion and the data is successfully fitted by Hayter-Penfold mean spherical approximation (HPMSA). Computer simulations of a pearl necklace-like chain of spheres is conducted to explain the structure factor when capillary bridges are present. Alternatively, we have analyzed the slope of the intensity at low scattering vector in a double logarithmic plot to determine the dimension of the fractal structures formed by the particles at different volume fraction of the bridging fluid. We have also studied the properties of the capillary bridge between a pair of particles. The significance of this study is to explore the possibility of using capillary force as a tool to engineer new colloidal structures and materials in solutions and to optimize their viscoelastic properties. (author)

  13. Validation of capillary blood analysis and capillary testing mode on the epoc Point of Care system

    Directory of Open Access Journals (Sweden)

    Jing Cao

    2017-12-01

    Full Text Available Background: Laboratory test in transport is a critical component of patient care, and capillary blood is a preferred sample type particularly in children. This study evaluated the performance of capillary blood testing on the epoc Point of Care Blood Analysis System (Alere Inc. Methods: Ten fresh venous blood samples was tested on the epoc system under the capillary mode. Correlation with GEM 4000 (Instrumentation Laboratory was examined for Na+, K+, Cl-, Ca2+, glucose, lactate, hematocrit, hemoglobin, pO2, pCO2, and pH, and correlation with serum tested on Vitros 5600 (Ortho Clinical Diagnostics was examined for creatinine. Eight paired capillary and venous blood was tested on epoc and ABL800 (Radiometer for the correlation of Na+, K+, Cl-, Ca2+, glucose, lactate, hematocrit, hemoglobin, pCO2, and pH. Capillary blood from 23 apparently healthy volunteers was tested on the epoc system to assess the concordance to reference ranges used locally. Results: Deming regression correlation coefficients for all the comparisons were above 0.65 except for ionized Ca2+. Accordance of greater than 85% to the local reference ranges were found in all assays with the exception of pO2 and Cl-. Conclusion: Data from this study indicates that capillary blood tests on the epoc system provide comparable results to reference method for these assays, Na+, K+, glucose, lactate, hematocrit, hemoglobin, pCO2, and pH. Further validation in critically ill patients is needed to implement the epoc system in patient transport. Impact of the study: This study demonstrated that capillary blood tests on the epoc Point of Care Blood Analysis System give comparable results to other chemistry analyzers for major blood gas and critical tests. The results are informative to institutions where pre-hospital and inter-hospital laboratory testing on capillary blood is a critical component of patient point of care testing. Keywords: Epoc, Capillary, Transport, Blood gas, Point of care

  14. Infraglottic lobular capillary hemangioma: A case report

    Directory of Open Access Journals (Sweden)

    Vinh Ly Pham Hoang

    2018-03-01

    Full Text Available Lobular capillary hemangioma (LCH is a benign proliferation of capillary blood vessels adopting a lobular configuration. A laryngeal origin of LCH is exceedingly rare. Here, we describe a case of an 11-year-old boy presenting with a subglottic lesion, leading to a subglottic stenosis. Histopathologic findings of the lesion implicated an LCH, which was removed successfully by a coblator. This is the first report of a subglottic LCH. Physicians should be aware of this unique lesion and laryngeal LCH should be considered in diagnosing the cause of a subglottic stenosis. Additionally, coblation should be an effective treatment for laryngeal LCH.

  15. Use of Plastic Capillaries for Macromolecular Crystallization

    Science.gov (United States)

    Potter, Rachel R.; Hong, Young-Soo; Ciszak, Ewa M.

    2003-01-01

    Methods of crystallization of biomolecules in plastic capillaries (Nalgene 870 PFA tubing) are presented. These crystallization methods used batch, free-interface liquid- liquid diffusion alone, or a combination with vapor diffusion. Results demonstrated growth of crystals of test proteins such as thaumatin and glucose isomerase, as well as protein studied in our laboratory such dihydrolipoamide dehydrogenase. Once the solutions were loaded in capillaries, they were stored in the tubes in frozen state at cryogenic temperatures until the desired time of activation of crystallization experiments.

  16. Can positrons be guided by insulating capillaries?

    International Nuclear Information System (INIS)

    DuBois, R.D.; Toekesi, K.

    2011-01-01

    Complete text of publication follows. Investigations of guiding of few hundred eV antiparticles by macroscopic insulating capillaries have been described. Using subfemtoamp positron and electron beams, we demonstrated that a portion of the entering beams were transmitted and emerged in the direction of the capillary. We also demonstrated that the transmitted intensities decreased as the capillary tilt angle was increased (see Fig. 1). Both of these are indications of guiding. However, a comparison with transmitted photon data implies that the positron transmission may result from geometric factors associated with our diffuse beams and tapered capillary used in these studies. For electrons, the comparison indicates differences which could imply that even very low intensity beams can be guided. Measurements of the transmitted intensity as a function of charge entering the capillary were inconclusive as no major increases in the transmitted intensity were observed. 2D static simulations imply that our beam intensities, although extremely small with respect to previous guiding experiments, were capable of supplying sufficient charge for guiding to occur. Although not definitive, our study implies that sub-femtoamp beam intensities are sufficient to form charge patches and produce guiding. This may have been observed for electrons with the question remaining open for positrons. That guiding was not clearly seen may have been due to the capillary geometry used or it may indicate that although sufficient charge is being supplied, the surface and bulk resistivities of glass permit this charge to dissipate faster than it is formed. This aspect was not taken into consideration in our simulations but a crude estimate of the discharge rate implies that beam intensities on the order of pA, rather than fA as used here, may be required for guiding to occur in the capillaries used here. Additional studies are required to definitively answer the question as to whether antiparticles

  17. Capillary condensation of adsorbates in porous materials.

    Science.gov (United States)

    Horikawa, Toshihide; Do, D D; Nicholson, D

    2011-11-14

    Hysteresis in capillary condensation is important for the fundamental study and application of porous materials, and yet experiments on porous materials are sometimes difficult to interpret because of the many interactions and complex solid structures involved in the condensation and evaporation processes. Here we make an overview of the significant progress in understanding capillary condensation and hysteresis phenomena in mesopores that have followed from experiment and simulation applied to highly ordered mesoporous materials such as MCM-41 and SBA-15 over the last few decades. Copyright © 2011 Elsevier B.V. All rights reserved.

  18. Hysteretic capillary condensation in a porous material

    International Nuclear Information System (INIS)

    Lilly, M.P.; Hallock, R.B.

    1995-01-01

    The authors report on the behavior of hysteresis subloops in the capillary condensation of 4 He in the porous material Nuclepore. For hysteretic systems composed of many independent elements, the Preisach model may be used to predict the behavior of the resulting hysteresis. One prediction is that subloops with common chemical potential endpoints will be congruent. The observations of such subloops show that the prediction of congruence fails for this capillary condensation system. To understand deviations from Preisach behavior the authors modify the model to account for intersections among the pores. The modified model is in close agreement with the experimental results

  19. Intracerebral Capillary Hemangioma: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Youn, In Young; Kim, Jae Kyun; Byun, Jun Soo [Dept. of Radiology, Chung Ang University Medical Center, Chung Ang University College of Medicine, Seoul (Korea, Republic of); Park, Eon Sub [Dept. of Radiology, Chung Ang University Medical Center, Chung Ang University College of Medicine, Seoul (Korea, Republic of)

    2012-01-15

    Intracerebral capillary hemangiomas are very rare benign vascular tumors that mostly occur during infancy. We described a 69-year-old man with generalized tonic-clonic seizures who was diagnosed with an intracranial mass. Multidetector computed tomography, magnetic resonance imaging and digital subtraction angiography studies were performed for evaluation of brain, and there was a well-enhancing mass found in the right temporal lobe without a definite feeding vessel. The patient underwent surgery and the pathologic examination demonstrated marked proliferation of small vessels with a lobular pattern in the brain parenchyma, which was confirmed to be capillary hemangioma.

  20. Studies on pulsed hollow cathode capillary discharges

    Energy Technology Data Exchange (ETDEWEB)

    Choi, P; Dumitrescu-Zoita, C; Larour, J; Rous, J [Ecole Polytechnique, 91 - Palaiseau (France). Lab. de Physique des Milieux Ionises; Favre, M; Moreno, J; Chuaqui, H; Wyndham, E [Pontificia Univ. Catolica de Chile, Santiago (Chile). Facultad de Fisica; Zambra, M [Comision Chilena de Energia Nuclear, Santiago (Chile); Wong, C S [Univ. of Malaya, Kuala Lumpur (Malaysia). Plasma Research Lab

    1997-12-31

    Preliminary results on radiation characteristics of pulsed hollow cathode capillary discharges are presented. The device combines the on axis electron beam assisted ionization capabilities of the transient hollow cathode discharge with a novel high voltage low inductance geometrical design, which integrates the local energy storage into the electrode system. A nanosecond regime high temperature plasma is produced in a long, high aspect ratio capillary, with light emission in the UV to XUV region. The discharge is operated from near vacuum to pressure in the 1000 mTorr range. (author). 2 figs., 7 refs.

  1. TESTICULAR CAPILLARY HEMANGIOMA: DESCRIPTION OF A CASE

    Directory of Open Access Journals (Sweden)

    A. S. Markova

    2012-01-01

    Full Text Available The paper describes a clinical case of testicular capillary hemangioma in a 24-year-old man undergone a partial resection of the testis with the intraoperative morphological examination. Testicular capillary hemangioma is a rare benign tumor of a vascular origin, which can be similar to malignant testicular tumors on the clinical presentation, as well as on the imaging methods, in particular to seminoma. The intraoperative histological study can assist in avoiding organ-removing surgical interventions in diagnostically ambiguous cases if a benign testicular tumor is diagnosed.

  2. Quantification of nucleotides by ICPMS: coupling of ICPMS with capillary electrophoresis or capillary HPLC

    International Nuclear Information System (INIS)

    Inagaki, K.; Fujii, S.; Takatsu, A.; Yarita, T.; Zhu, Y.; Chiba, K.

    2009-01-01

    Full text: Quantification of nucleotides in small volumes of biological samples has eagerly been demanded. A method using ICPMS coupled with capillary electrophoresis or capillary liquid chromatography is reported. A new interface system, which consists of a double tube nebulizer inserted with a fused silica capillary tube and a cylinder mini-chamber with a sheath gas inlet, was designed. Moreover, the surface conditions of the sampling and skimmer cones, and the introduction of H 2 gas into the plasma were found to significantly improve the signal/background ratio for phosphorus determination at m/z 31. (author)

  3. Comprehensive protein profiling by multiplexed capillary zone electrophoresis using cross-linked polyacrylamide coated capillaries.

    Science.gov (United States)

    Liu, Shaorong; Gao, Lin; Pu, Qiaosheng; Lu, Joann J; Wang, Xingjia

    2006-02-01

    We have recently developed a new process to create cross-linked polyacrylamide (CPA) coatings on capillary walls to suppress protein-wall interactions. Here, we demonstrate CPA-coated capillaries for high-efficiency (>2 x 10(6) plates per meter) protein separations by capillary zone electrophoresis (CZE). Because CPA virtually eliminates electroosmotic flow, positive and negative proteins cannot be analyzed in a single run. A "one-sample-two-separation" approach is developed to achieve a comprehensive protein analysis. High throughput is achieved through a multiplexed CZE system.

  4. [The re-introduction of malaria in the Pontine Marshes and the Cassino district during the end of World War II. Biological warfare or global war tactics?].

    Science.gov (United States)

    Sabbatani, Sergio; Fiorino, Sirio; Manfredi, Roberto

    2013-12-01

    After the fall of the Fascist regime on September 8, 1943, Italy was split into two parts: (i) the Southern regions where the King Victor Emanuel III and the military general staff escaped was under the control of English-American allied armies, and (ii) the northern regions comprising Lazio, Tuscany, Umbria, and Marche still under the control of the Germans. The German Wehrmacht, after suffering several defeats on Southern lines, established a new strengthened line of defence called the Gustav line, located south of Rome and crossing in the western portion the recently-drained Pontine Marshes. In his book published in 2006, Frank Snowden hypothesised that occupying German armies in 1943 had initiated a programme of re-flooding the Pontine plain as a biological warfare strategy to re-introduce malaria infection in the territories south of Rome, Such a plan was intended (i) to slow down the advance of English-American forces, and (ii) to punish Italians who abandoned their former allies. Other authors, including Annibale Folchi, Erhard Geissler, and Jeanne Guillemin, have disputed this hypothesis based on an analysis of recently-uncovered archive documents. What is not disputed is that the flooding of the Pontine and Roman plains in 1943 contributed to a severe malaria epidemic in 1944, which was associated with exceptionally high morbidity and mortality rates in the afflicted populations. Herein, we critically evaluate the evidence and arguments of whether the Wehrmacht specifically aimed to spread malaria as a novel biological warfare strategy in Italy during the Second World War. In our opinion, evidence for specific orders to deliberately spread malaria by the German army is lacking, although the strategy itself may have been considered by Nazis during the waning years of the war.

  5. A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

    Science.gov (United States)

    Tabatabaiefar, Mohammad Amin; Alipour, Paria; Pourahmadiyan, Azam; Fattahi, Najmeh; Shariati, Laleh; Golchin, Neda; Mohammadi-Asl, Javad

    2017-08-15

    Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent sinopulmonary infections, and increased risk of malignancy, especially of lymphoid origin. Ataxia Telangiectasia Mutated gene, ATM, as a causative gene for the A-T disorder, encodes the ATM protein, which plays an important role in the activation of cell-cycle checkpoints and initiation of DNA repair in response to DNA damage. Targeted next-generation sequencing (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly, and dysarthria. Sanger sequencing was used to confirm the candidate pathogenic variants. Computational docking was done using the HEX software to examine how this change affects the interactions of ATM with the upstream and downstream proteins. Three different variants were identified comprising two homozygous SNPs and one novel homozygous frameshift variant (c.80468047delTA, p.Thr2682ThrfsX5), which creates a stop codon in exon 57 leaving the protein truncated at its C-terminal portion. Therefore, the activation and phosphorylation of target proteins are lost. Moreover, the HEX software confirmed that the mutated protein lost its interaction with upstream and downstream proteins. The variant was classified as pathogenic based on the American College of Medical Genetics and Genomics guideline. This study expands the spectrum of ATM pathogenic variants in Iran and demonstrates the utility of targeted NGS in genetic diagnostics. Copyright © 2017. Published by Elsevier B.V.

  6. Recurrent gastrointestinal hemorrhage in treatment with dasatinib in a patient showing SMAD4 mutation with acute lymphoblastic leukemia Philadelphia positive and juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

    Directory of Open Access Journals (Sweden)

    Chiara Sartor

    2013-07-01

    Full Text Available We report a case of a patient affected by juvenile polyposis and hereditary hemorrhagic telangiectasia linked to a SMAD4 mutation who developed acute lymphoblastic leukemia positive for the Philadelphia chromosome translocation and with a complex karyotype. During the treatment with the tyrosine kinase inhibitor dasatinib the patient presented recurrent severe gastrointestinal hemorrhages linked to the genetic background and aggravated by thrombocytopenia.

  7. Deterministic rather than stochastic factors explain most of the variation in the expression of skin telangiectasia after radiotherapy

    International Nuclear Information System (INIS)

    Safwat, Akmal; Bentzen, Soeren M.; Turesson, Ingela; Hendry, Jolyon H.

    2002-01-01

    Background: The large patient-to-patient variability in the grade of normal tissue injury after a standard course of radiotherapy is well established clinically. A better understanding of this individual variation may provide valuable insights into the pathogenesis of radiation damage and the prospects of predicting the outcome. Purpose: To estimate the relative importance of the stochastic vs. patient-related components of variability in the expression of radiation-induced normal tissue damage. Methods and Materials: The study data were selected from the dose fractionation studies of Turesson in Gothenburg. Patients treated with bilateral internal mammary fields, who completed at least 10 years of follow-up, were included. The material included 22 different fractionation schedules (11 on each side). Telangiectasia was graded on an arbitrary 6-point scale using clinical photographs of the irradiated fields. For each field, in each patient, a curve showing the grade of telangiectasia as a function of time was constructed. A measure of radioresponsiveness was obtained from the difference between the area under the curve (AUC) for a specific field in an individual patient minus the mean AUC of fields receiving the same dose fractionation schedule. As a confirmatory procedure, the same analysis was repeated with a weighted area under the curve (WAUC) approach, in which the time spent at or above each of the 5 nonzero grades was calculated for each field in each patient. These times were used as explanatory variables in a linear regression analysis of biological equivalent dose to establish statistically the weight of each grade providing the optimal relationship between dose and effect. Using these regression coefficients, the weighted area under the grade-time curve (WAUC) was estimated. Results: The AUC was significantly correlated with the isoeffective dose in 2-Gy fractions (ID2). An analysis of variance components, using the maximum likelihood method, showed that

  8. Hysteretic capillary condensation of 4He on Nuclepore substrates

    International Nuclear Information System (INIS)

    Godshalk, K.M.; Smith, D.T.; Hallock, R.B.

    1987-01-01

    Measurements of the approach to capillary condensation and the hysteresis encountered in capillary condensation are reported for helium adsorbed on the polycarbonate substrate Nuclepore. (Author) (5 refs., 3 figs.)

  9. Viscosity measurement in the capillary tube viscometer under unsteady flow

    International Nuclear Information System (INIS)

    Park, Heung Jun; Yoo, Sang Sin; Suh, Sang Ho

    2000-01-01

    The objective of the present study is to develop a new device that the viscous characteristics of fluids are determined by applying the unsteady flow concept to the traditional capillary tube viscometer. The capillary tube viscometer consists of a small cylindrical reservoir, capillary tube, a load cell system that measures the mass flow rate, interfaces, and computer. Due to the small size of the reservoir the height of liquid in the reservoir decreases as soon as the liquid in the reservoir drains out through the capillary and the mass flow rate in the capillary decreases as the hydrostatic pressure in the reservoir decreases resulting in a decrease of the shear rate in the capillary tube. The instantaneous shear rate and driving force in the capillary tube are determined by measuring the mass flow rate through the capillary, and the fluid viscosity is determined from the measured flow rate and the driving force

  10. Sodium-reduced continuous venovenous hemodiafiltration (CVVHDF) for the prevention of central pontine myelinolysis (CPM) in hyponatremic patients scheduled for orthotopic liver transplantation.

    Science.gov (United States)

    Lenk, Marcus R; Kaspar, Michael

    2012-08-01

    Two patients in end-stage hepatic failure presented for orthotopic liver transplantation with longstanding severe hyponatremia (121 and 122 mmol/L). Both patients underwent liver transplantation with the concomitant use of continuous venovenous hemodiafiltration. Replacement and dialysate solutions were prepared individually to contain a sodium level that was individually considered safe with regard to the development of central pontine myelinolysis. The sodium increase in both patients was within the expected and planned limits despite a situation of mass transfusion. Both patients did well postoperatively and neither patient suffered neurological deficits. Copyright © 2012 Elsevier Inc. All rights reserved.

  11. A double-blind, randomized study comparing pure chromated glycerin with chromated glycerin with 1% lidocaine and epinephrine for sclerotherapy of telangiectasias and reticular veins.

    Science.gov (United States)

    Kern, Philippe; Ramelet, Albert-Adrien; Wutschert, Robert; Mazzolai, Lucia

    2011-11-01

    Chromated glycerin (CG) is an effective, although painful, sclerosing agent for telangiectasias and reticular leg veins treatment. To determine pain level and relative efficacy of pure or one-third lidocaine-epinephrine 1% mixed chromated glycerin in a prospective randomized double-blind trial. Patients presenting with telangiectasias and reticular leg veins on the lateral aspect of the thigh (C(1A) or (S) E(P) A(S) P(N1) ) were randomized to receive pure CG or CG mixed with one-third lidocaine-epinephrine 1% (CGX) treatment. Lower limb photographs were taken before and after treatment and analyzed by blinded expert reviewers for efficacy assessment (visual vein disappearance). Patients' pain and satisfaction were assessed using visual analogue scales. Data from 102 of 110 randomized patients could be evaluated. Patient pain scores were significantly higher when pure CG was used than with CGX (psclerotherapy pain without affecting efficacy when treating telangiectasias and reticular leg veins. © 2011 by the American Society for Dermatologic Surgery, Inc.

  12. Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study.

    Science.gov (United States)

    Geisthoff, Urban W; Seyfert, Ulrich T; Kübler, Marcus; Bieg, Birgitt; Plinkert, Peter K; König, Jochem

    2014-09-01

    Epistaxis is the most frequent manifestation in hereditary hemorrhagic telangiectasia, in which no optimal treatment exists. It can lead to severe anemia and reduced quality of life. Positive effects of tranexamic acid, an antifibrinolytic drug, have been reported on epistaxis related to this disorder. We sought to evaluate the efficacy of treating nosebleeds in hereditary hemorrhagic telangiectasia with tranexamic acid. In a randomized, double-blind, placebo controlled, cross-over phase IIIB study, 1 gram of tranexamic acid or placebo was given orally 3 times daily for 3 months for a total of 6 months. 22 patients were included in the intention-to-treat analysis. Hemoglobin levels, the primary outcome measure, did not change significantly (p=0.33). The secondary outcome measure was epistaxis score and patients reported a statistically significant reduction in nosebleeds, equaling a clinically relevant 54% diminution (p=0.0031), as compared to the placebo period. No severe side effects were observed. Tranexamic acid reduces epistaxis in patients with hereditary hemorrhagic telangiectasia. (Clinical trial registration numbers: BfArM 141 CHC 9008-001 and ClinicalTrials.gov NCT01031992). Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. Hemorrhage-adjusted iron requirements, hematinics and hepcidin define hereditary hemorrhagic telangiectasia as a model of hemorrhagic iron deficiency.

    Directory of Open Access Journals (Sweden)

    Helen Finnamore

    Full Text Available Iron deficiency anemia remains a major global health problem. Higher iron demands provide the potential for a targeted preventative approach before anemia develops. The primary study objective was to develop and validate a metric that stratifies recommended dietary iron intake to compensate for patient-specific non-menstrual hemorrhagic losses. The secondary objective was to examine whether iron deficiency can be attributed to under-replacement of epistaxis (nosebleed hemorrhagic iron losses in hereditary hemorrhagic telangiectasia (HHT.The hemorrhage adjusted iron requirement (HAIR sums the recommended dietary allowance, and iron required to replace additional quantified hemorrhagic losses, based on the pre-menopausal increment to compensate for menstrual losses (formula provided. In a study population of 50 HHT patients completing concurrent dietary and nosebleed questionnaires, 43/50 (86% met their recommended dietary allowance, but only 10/50 (20% met their HAIR. Higher HAIR was a powerful predictor of lower hemoglobin (p = 0.009, lower mean corpuscular hemoglobin content (p<0.001, lower log-transformed serum iron (p = 0.009, and higher log-transformed red cell distribution width (p<0.001. There was no evidence of generalised abnormalities in iron handling Ferritin and ferritin(2 explained 60% of the hepcidin variance (p<0.001, and the mean hepcidinferritin ratio was similar to reported controls. Iron supplement use increased the proportion of individuals meeting their HAIR, and blunted associations between HAIR and hematinic indices. Once adjusted for supplement use however, reciprocal relationships between HAIR and hemoglobin/serum iron persisted. Of 568 individuals using iron tablets, most reported problems completing the course. For patients with hereditary hemorrhagic telangiectasia, persistent anemia was reported three-times more frequently if iron tablets caused diarrhea or needed to be stopped.HAIR values, providing an indication of

  14. Hypofractionation vs Conventional Radiation Therapy for Newly Diagnosed Diffuse Intrinsic Pontine Glioma: A Matched-Cohort Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Janssens, Geert O., E-mail: g.janssens@rther.umcn.nl [Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Jansen, Marc H. [Pediatric Oncology/Hematology, VU University Medical Center, Amsterdam (Netherlands); Lauwers, Selmer J. [Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Nowak, Peter J. [Department of Radiation Oncology, Erasmus Medical Centre, Rotterdam (Netherlands); Oldenburger, Foppe R. [Department of Radiation Oncology, Academic Medical Centre, Amsterdam (Netherlands); Bouffet, Eric [Department of Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto (Canada); Saran, Frank [Department of Pediatric Oncology, The Royal Marsden NHS Foundation Trust, Sutton (United Kingdom); Kamphuis-van Ulzen, Karin [Department of Radiology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Lindert, Erik J. van [Department of Neurosurgery, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Schieving, Jolanda H. [Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Boterberg, Tom [Department of Radiation Oncology, Ghent University Hospital, Ghent (Belgium); Kaspers, Gertjan J. [Pediatric Oncology/Hematology, VU University Medical Center, Amsterdam (Netherlands); Span, Paul N.; Kaanders, Johannes H. [Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Gidding, Corrie E. [Department of Pediatric Oncology, Radboud University Nijmegen Medical Centre, Nijmegen (Netherlands); Hargrave, Darren [Department of Oncology, Great Ormond Street Hospital, London (United Kingdom)

    2013-02-01

    Purpose: Despite conventional radiation therapy, 54 Gy in single doses of 1.8 Gy (54/1.8 Gy) over 6 weeks, most children with diffuse intrinsic pontine glioma (DIPG) will die within 1 year after diagnosis. To reduce patient burden, we investigated the role of hypofractionation radiation therapy given over 3 to 4 weeks. A 1:1 matched-cohort analysis with conventional radiation therapy was performed to assess response and survival. Methods and Materials: Twenty-seven children, aged 3 to 14, were treated according to 1 of 2 hypofractionation regimens over 3 to 4 weeks (39/3 Gy, n=16 or 44.8/2.8 Gy, n=11). All patients had symptoms for {<=}3 months, {>=}2 signs of the neurologic triad (cranial nerve deficit, ataxia, long tract signs), and characteristic features of DIPG on magnetic resonance imaging. Twenty-seven patients fulfilling the same diagnostic criteria and receiving at least 50/1.8 to 2.0 Gy were eligible for the matched-cohort analysis. Results: With hypofractionation radiation therapy, the overall survival at 6, 9, and 12 months was 74%, 44%, and 22%, respectively. Progression-free survival at 3, 6, and 9 months was 77%, 43%, and 12%, respectively. Temporary discontinuation of steroids was observed in 21 of 27 (78%) patients. No significant difference in median overall survival (9.0 vs 9.4 months; P=.84) and time to progression (5.0 vs 7.6 months; P=.24) was observed between hypofractionation vs conventional radiation therapy, respectively. Conclusions: For patients with newly diagnosed DIPG, a hypofractionation regimen, given over 3 to 4 weeks, offers equal overall survival with less treatment burden compared with a conventional regimen of 6 weeks.

  15. Discrepant longitudinal volumetric and metabolic evolution of diffuse intrinsic Pontine gliomas during treatment: implications for current response assessment strategies

    Energy Technology Data Exchange (ETDEWEB)

    Loebel, U. [University Medical Center Hamburg-Eppendorf, Department of Diagnostic and Interventional Neuroradiology, Hamburg (Germany); St. Jude Children' s Research Hospital, Department of Diagnostic Imaging, Memphis, TN (United States); Hwang, S.; Edwards, A.; Patay, Z. [St. Jude Children' s Research Hospital, Department of Diagnostic Imaging, Memphis, TN (United States); Li, Y.; Li, X. [St. Jude Children' s Research Hospital, Department of Biostatistics, Memphis, TN (United States); Broniscer, A. [St. Jude Children' s Research Hospital, Department of Oncology, Memphis, TN (United States); University of Tennessee Health Science Center, Department of Pediatrics, Memphis, TN (United States)

    2016-10-15

    Based on clinical observations, we hypothesized that in infiltrative high-grade brainstem neoplasms, such as diffuse intrinsic pontine glioma (DIPG), longitudinal metabolic evaluation of the tumor by magnetic resonance spectroscopy (MRS) may be more accurate than volumetric data for monitoring the tumor's biological evolution during standard treatment. We evaluated longitudinal MRS data and corresponding tumor volumes of 31 children with DIPG. We statistically analyzed correlations between tumor volume and ratios of Cho/NAA, Cho/Cr, and NAA/Cr at key time points during the course of the disease through the end of the progression-free survival period. By the end of RT, tumor volume had significantly decreased from the baseline (P <.0001) and remained decreased through the last available follow-up magnetic resonance imaging study (P =.007632). However, the metabolic profile of the tumor tissue (Cho/Cr, NAA/Cr, and Cho/NAA ratios) did not change significantly over time. Our data show that longitudinal tumor volume and metabolic profile changes are dissociated in patients with DIPG during progression-free survival. Volume changes, therefore, may not accurately reflect treatment-related changes in tumor burden. This study adds to the existing body of evidence that the value of conventional MRI metrics, including volumetric data, needs to be reevaluated critically and, in infiltrative tumors in particular, may not be useful as study end-points in clinical trials. We submit that advanced quantitative MRI data, including robust, MRS-based metabolic ratios and diffusion and perfusion metrics, may be better surrogate markers of key end-points in clinical trials. (orig.)

  16. Hox paralog group 2 genes control the migration of mouse pontine neurons through slit-robo signaling.

    Directory of Open Access Journals (Sweden)

    Marc J Geisen

    2008-06-01

    Full Text Available The pontine neurons (PN represent a major source of mossy fiber projections to the cerebellum. During mouse hindbrain development, PN migrate tangentially and sequentially along both the anteroposterior (AP and dorsoventral (DV axes. Unlike DV migration, which is controlled by the Netrin-1/Dcc attractive pathway, little is known about the molecular mechanisms guiding PN migration along the AP axis. Here, we show that Hoxa2 and Hoxb2 are required both intrinsically and extrinsically to maintain normal AP migration of subsets of PN, by preventing their premature ventral attraction towards the midline. Moreover, the migration defects observed in Hoxa2 and Hoxb2 mutant mice were phenocopied in compound Robo1;Robo2, Slit1;Slit2, and Robo2;Slit2 knockout animals, indicating that these guidance molecules act downstream of Hox genes to control PN migration. Indeed, using chromatin immunoprecipitation assays, we further demonstrated that Robo2 is a direct target of Hoxa2 in vivo and that maintenance of high Robo and Slit expression levels was impaired in Hoxa2 mutant mice. Lastly, the analysis of Phox2b-deficient mice indicated that the facial motor nucleus is a major Slit signaling source required to prevent premature ventral migration of PN. These findings provide novel insights into the molecular control of neuronal migration from transcription factor to regulation of guidance receptor and ligand expression. Specifically, they address the question of how exposure to multiple guidance cues along the AP and DV axes is regulated at the transcriptional level and in turn translated into stereotyped migratory responses during tangential migration of neurons in the developing mammalian brain.

  17. Prospective Evaluation of Radiotherapy With Concurrent and Adjuvant Temozolomide in Children With Newly Diagnosed Diffuse Intrinsic Pontine Glioma

    International Nuclear Information System (INIS)

    Jalali, Rakesh; Raut, Nirmal; Arora, Brijesh; Gupta, Tejpal; Dutta, Debnarayan; Munshi, Anusheel; Sarin, Rajiv; Kurkure, Purna

    2010-01-01

    Purpose: To present outcome data in a prospective study of radiotherapy (RT) with concurrent and adjuvant temozolomide (TMZ) in children with diffuse intrinsic pontine gliomas (DIPGs). Methods and Materials: Pediatric patients with newly diagnosed DIPGs were prospectively treated with focal RT to a dose of 54 Gy in 30 fractions along with concurrent daily TMZ (75 mg/m 2 , Days 1-42). Four weeks after completing the initial RT-TMZ schedule, adjuvant TMZ (200 mg/m 2 , Days 1-5) was given every 28 days to a maximum of 12 cycles. Response was evaluated clinically and radiologically with magnetic resonance imaging and positron emission tomography scans. Results: Between March 2005 and November 2006, 20 children (mean age, 8.3 years) were accrued. Eighteen patients have died from disease progression, one patient is alive with progressive disease, and one patient is alive with stable disease. Median overall survival and progression-free survival were 9.15 months and 6.9 months, respectively. Grade III/IV toxicity during the concurrent RT-TMZ phase included thrombocytopenia in 3 patients, leucopenia in 2, and vomiting in 7. Transient Grade II skin toxicity developed in the irradiated fields in 18 patients. During the adjuvant TMZ phase, Grade III/IV leucopenia developed in 2 patients and Grade IV thrombocytopenia in 1 patient. Patients with magnetic resonance imaging diagnosis of a high-grade tumor had worse survival than those with a low-grade tumor (p = 0.001). Patients with neurologic improvement after RT-TMZ had significantly better survival than those who did not (p = 0.048). Conclusions: TMZ with RT has not yielded any improvement in the outcome of DIPG compared with RT alone. Further clinical trials should explore novel treatment modalities.

  18. Anomalous capillary flow of coal tar pitches

    Energy Technology Data Exchange (ETDEWEB)

    Saint Romain, J.L.; Lahaye, J.; Ehrburger, P.; Couderc, P.

    1986-06-01

    Capillary flow of liquid coal tar pitch into a coke bed was studied. Anomalies in the flow could not be attributed to a plugging effect for mesophase content lower than 20 wt%. The flow behaviour of small pitch droplets can be correlated with the change in physicochemical properties, as measured by the glass transition temperature, on penetration into the coke bed. 4 references.

  19. Capillary-Patterns for Biometric Authentication

    NARCIS (Netherlands)

    Paloma Benedicto, J.; Bruekers, A.A.M.; Presura, C.N.; Garcia Molina, G.

    2007-01-01

    In this report, we present a method using the capillary structuresunder the "distal interphalangeal joint" (DIP joint), which is located between the second and third (distal) phalanges of the finger, for achieving secure biometric authentication. Images of the DIPjoint are acquired using a

  20. Capillary Condensation in Pores with Rough Walls:

    Czech Academy of Sciences Publication Activity Database

    Bryk, P.; Rżysko, W.; Malijevský, Alexandr; Sokołowski, S.

    2007-01-01

    Roč. 313, č. 1 (2007), s. 41-52 ISSN 0021-9797 Grant - others:TOK(XE) 509249 Institutional research plan: CEZ:AV0Z40720504 Source of funding: R - rámcový projekt EK Keywords : adsorption * pore * capillary condensation Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 2.309, year: 2007

  1. Numerical simulations of capillary barrier field tests

    International Nuclear Information System (INIS)

    Morris, C.E.; Stormont, J.C.

    1997-01-01

    Numerical simulations of two capillary barrier systems tested in the field were conducted to determine if an unsaturated flow model could accurately represent the observed results. The field data was collected from two 7-m long, 1.2-m thick capillary barriers built on a 10% grade that were being tested to investigate their ability to laterally divert water downslope. One system had a homogeneous fine layer, while the fine soil of the second barrier was layered to increase its ability to laterally divert infiltrating moisture. The barriers were subjected first to constant infiltration while minimizing evaporative losses and then were exposed to ambient conditions. The continuous infiltration period of the field tests for the two barrier systems was modelled to determine the ability of an existing code to accurately represent capillary barrier behavior embodied in these two designs. Differences between the field test and the model data were found, but in general the simulations appeared to adequately reproduce the response of the test systems. Accounting for moisture retention hysteresis in the layered system will potentially lead to more accurate modelling results and is likely to be important when developing reasonable predictions of capillary barrier behavior

  2. Delayed Capillary Breakup of Falling Viscous Jets

    NARCIS (Netherlands)

    Javadi, A.; Eggers, J.; Bonn, D.; Habibi, M.; Ribe, N.M.

    2013-01-01

    Thin jets of viscous fluid like honey falling from capillary nozzles can attain lengths exceeding 10 m before breaking up into droplets via the Rayleigh-Plateau (surface tension) instability. Using a combination of laboratory experiments and WKB analysis of the growth of shape perturbations on a jet

  3. Imbibition of ``Open Capillary'': Fundamentals and Applications

    Science.gov (United States)

    Tani, Marie; Kawano, Ryuji; Kamiya, Koki; Okumura, Ko

    2015-11-01

    Control or transportation of small amount of liquid is one of the most important issues in various contexts including medical sciences or pharmaceutical industries to fuel delivery. We studied imbibition of ``open capillary'' both experimentally and theoretically, and found simple scaling laws for both statics and dynamics of the imbibition, similarly as that of imbibition of capillary tubes. Furthermore, we revealed the existence of ``precursor film,'' which developed ahead of the imbibing front, and the dynamics of it is described well by another scaling law for capillary rise in a corner. Then, to show capabilities of open capillaries, we demonstrated two experiments by fabricating micro mixing devices to achieve (1) simultaneous multi-color change of the Bromothymol blue (BTB) solution and (2) expression of the green florescent protein (GFP). This research was partly supported by ImPACT Program of Council for Science, Technology and Innovation (Cabinet Office, Government of Japan). M. T. is supported by the Japan Society for the Promotion of Science Research Fellowships for Young Scientists.

  4. Van de Graaff generator for capillary electrophoresis.

    Science.gov (United States)

    Lee, Seung Jae; Castro, Eric R; Guijt, Rosanne M; Tarn, Mark D; Manz, Andreas

    2017-09-29

    A new approach for high voltage capillary electrophoresis (CE) is proposed, which replaces the standard high voltage power supply with a Van de Graaff generator, a low current power source. Because the Van de Graaff generator is a current-limited source (10μA), potentials exceeding 100kV can be generated for CE when the electrical resistance of the capillary is maximized. This was achieved by decreasing the capillary diameter and reducing the buffer ionic strength. Using 2mM borate buffer and a 5μm i.d. capillary, fluorescently labeled amino acids were separated with efficiencies up to 3.5 million plates; a 5.7 fold improvement in separation efficiency compared to a normal power supply (NPS) typically used in CE. This separation efficiency was realized using a simple set-up without significant Joule heating, making the Van de Graaff generator a promising alternative for applying the high potentials required for enhancing resolution in the separation and analysis of highly complex samples, for example mixtures of glycans. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Capillary Electrophoresis Analysis of Conventional Splicing Assays

    DEFF Research Database (Denmark)

    de Garibay, Gorka Ruiz; Acedo, Alberto; García-Casado, Zaida

    2014-01-01

    of these assays is often challenging. Here, we explore this issue by conducting splicing assays in 31 BRCA2 genetic variants. All variants were assessed by RT-PCR followed by capillary electrophoresis and direct sequencing. If assays did not produce clear-cut outputs (Class-2 or Class-5 according to analytical...

  6. Analytical biotechnology: Capillary electrophoresis and chromatography

    International Nuclear Information System (INIS)

    Horvath, C.; Nikelly, J.G.

    1990-01-01

    The papers describe the separation, characterization, and equipment required for the electrophoresis or chromatography of cyclic nucleotides, pharmaceuticals, therapeutic proteins, recombinant DNA products, pheromones, peptides, and other biological materials. One paper, On-column radioisotope detection for capillary electrophoresis, has been indexed separately for inclusion on the data base

  7. Application of CHESS single-bounce capillaries at synchrotron beamlines

    Science.gov (United States)

    Huang, R.; Szebenyi, T.; Pfeifer, M.; Woll, A.; Smilgies, D.-M.; Finkelstein, K.; Dale, D.; Wang, Y.; Vila-Comamala, J.; Gillilan, R.; Cook, M.; Bilderback, D. H.

    2014-03-01

    Single-bounce capillaries are achromatic X-ray focusing optics that can provide efficient and high demagnification focusing with large numerical apertures. Capillary fabrication at CHESS can be customized according to specific application requirements. Exemplary applications are reviewed in this paper, as well as recent progress on condensers for high-resolution transmission X-ray microscopy and small focal size capillaries.

  8. Analysis of glycated hemoglobin A1c by capillary electrophoresis and capillary isoelectric focusing

    Czech Academy of Sciences Publication Activity Database

    Koval, Dušan; Kašička, Václav; Cottet, H.

    2011-01-01

    Roč. 413, č. 1 (2011), s. 8-15 ISSN 0003-2697 R&D Projects: GA ČR GP203/09/P485; GA ČR(CZ) GA203/08/1428 Institutional research plan: CEZ:AV0Z40550506 Keywords : capillary zone electrophoresis * capillary isoelectric focusing * glycated hemoglobin HbA1c Subject RIV: CB - Analytical Chemistry, Separation Impact factor: 2.996, year: 2011

  9. Validation of capillary blood analysis and capillary testing mode on the epoc Point of Care system.

    Science.gov (United States)

    Cao, Jing; Edwards, Rachel; Chairez, Janette; Devaraj, Sridevi

    2017-12-01

    Laboratory test in transport is a critical component of patient care, and capillary blood is a preferred sample type particularly in children. This study evaluated the performance of capillary blood testing on the epoc Point of Care Blood Analysis System (Alere Inc). Ten fresh venous blood samples was tested on the epoc system under the capillary mode. Correlation with GEM 4000 (Instrumentation Laboratory) was examined for Na+, K+, Cl-, Ca2+, glucose, lactate, hematocrit, hemoglobin, pO2, pCO2, and pH, and correlation with serum tested on Vitros 5600 (Ortho Clinical Diagnostics) was examined for creatinine. Eight paired capillary and venous blood was tested on epoc and ABL800 (Radiometer) for the correlation of Na+, K+, Cl-, Ca2+, glucose, lactate, hematocrit, hemoglobin, pCO2, and pH. Capillary blood from 23 apparently healthy volunteers was tested on the epoc system to assess the concordance to reference ranges used locally. Deming regression correlation coefficients for all the comparisons were above 0.65 except for ionized Ca2+. Accordance of greater than 85% to the local reference ranges were found in all assays with the exception of pO2 and Cl-. Data from this study indicates that capillary blood tests on the epoc system provide comparable results to reference method for these assays, Na+, K+, glucose, lactate, hematocrit, hemoglobin, pCO2, and pH. Further validation in critically ill patients is needed to implement the epoc system in patient transport. This study demonstrated that capillary blood tests on the epoc Point of Care Blood Analysis System give comparable results to other chemistry analyzers for major blood gas and critical tests. The results are informative to institutions where pre-hospital and inter-hospital laboratory testing on capillary blood is a critical component of patient point of care testing.

  10. A complete soil hydraulic model accounting for capillary and adsorptive water retention, capillary and film conductivity, and hysteresis

    NARCIS (Netherlands)

    Sakai, Masaru; Van Genuchten, Martinus Th|info:eu-repo/dai/nl/31481518X; Alazba, A. A.; Setiawan, Budi Indra; Minasny, Budiman

    2015-01-01

    A soil hydraulic model that considers capillary hysteretic and adsorptive water retention as well as capillary and film conductivity covering the complete soil moisture range is presented. The model was obtained by incorporating the capillary hysteresis model of Parker and Lenhard into the hydraulic

  11. Ionizing radiation-induced phosphorylation of RPA p34 is deficient in ataxia telangiectasia and reduced in aged normal fibroblasts

    International Nuclear Information System (INIS)

    Xinbo Cheng; Nge Cheong; Ya Wang; Iliakis, George

    1996-01-01

    Replication protein A (RPA, also called human single stranded DNA binding protein, hSSB) is a trimeric, multifunctional protein complex involved in DNA replication, DNA repair and recombination. Phosphorylation of RPA p34 subunit is observed after exposure of cells to radiation and other DNA damaging agents, which implicates the protein not only in repair but also in the regulation of replication on damaged DNA template. Here, we show that the phosphorylation observed in RPA p34 after exposure to ionizing radiation, X- or γ-rays, is reduced and occurs later in primary fibroblasts from patients suffering from ataxia telangiectasia (AT), as compared to normal fibroblasts. We also show that in primary normal human fibroblasts, radiation-induced phosphorylation of RPA p34 is 'age'-dependent and decreases significantly as cultures senesce. Radiation-induced phosphorylation of RPA p34 is nearly absent in non-cycling cells, while the expression of p21 cip1/waf1/sdi1 remains inducible. The results demonstrate a growth-stage and culture-age dependency in radiation-induced RPA p34 phosphorylation, and suggest the operation of a signal transduction pathway that is inactivated in senescing or quiescent fibroblasts and defective in AT cells

  12. Ataxia-telangiectasia cells are not uniformly deficient in poly(ADP-ribose) synthesis following X-irradiation

    International Nuclear Information System (INIS)

    Zwelling, L.A.; Kerrigan, D.; Mattern, M.R.

    1983-01-01

    The synthesis of poly(adenosine diphosphoribose [poly(ADP-R)] follows the DNA strand breakage produced by a number of physical and chemical agents, including X-radiation, and may be important for repair of several types of DNA damage. The reduction or abolition of its synthesis following X-irradiation might explain the enhanced sensitivity of ataxia-telangiectasia (A-T) cells to X-ray. We have examined 8 lines of human fibroblasts (including 4 A-T lines) for stimulation of the synthesis of poly(ADP-R) by X-irradiation. Similar amounts of X-ray-stimulated synthesis of poly(ADP-R) were detected in 4 lines of A-T fibroblasts, and in fibrolasts from a xeroderma pigmentosum (XP) patient, a Fanconi's anemia (FA) patient and 2 normal patients. 6 lines of human lymphoblastoid lines were also examined for X-ray-stimulated poly(ADP-R) synthesis. 4 A-T lines displayed an unusually high synthesis of poly(ADP-R) in unirradiated cells compared with 2 normal lines. (orig./AJ)

  13. Ataxia-telangiectasia cells are not uniformly deficient in poly(ADP-ribose) synthesis following X-irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Zwelling, L.A.; Kerrigan, D. (National Cancer Inst., Bethesda, MD (USA). Lab. of Molecular Pharmacology); Mattern, M.R. (National Cancer Inst., Bethesda, MD (USA). Lab. of Molecular Carcinogenesis)

    1983-04-01

    The synthesis of poly(adenosine diphosphoribose (poly(ADP-R)) follows the DNA strand breakage produced by a number of physical and chemical agents, including X-radiation, and may be important for repair of several types of DNA damage. The reduction or abolition of its synthesis following X-irradiation might explain the enhanced sensitivity of ataxia-telangiectasia (A-T) cells to X-ray. We have examined 8 lines of human fibroblasts (including 4 A-T lines) for stimulation of the synthesis of poly(ADP-R) by X-irradiation. Similar amounts of X-ray-stimulated synthesis of poly(ADP-R) were detected in 4 lines of A-T fibroblasts, and in fibrolasts from a xeroderma pigmentosum (XP) patient, a Fanconi's anemia (FA) patient and 2 normal patients. 6 lines of human lymphoblastoid lines were also examined for X-ray-stimulated poly(ADP-R) synthesis. 4 A-T lines displayed an unusually high synthesis of poly(ADP-R) in unirradiated cells compared with 2 normal lines.

  14. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia

    International Nuclear Information System (INIS)

    Jaspers, N.G.; Taalman, R.D.; Baan, C.

    1988-01-01

    Fibroblast cultures from six unrelated patients having a familial type of immunodeficiency combined with microcephaly, developmental delay, and chromosomal instability were studied with respect to their response to ionizing radiation. The cells from five of them resembled those from individuals with ataxia telangiectasia (AT) in that they were two to three times more radiosensitive on the basis of clonogenic cell survival. In addition, after exposure to either X-rays or bleomycin, they showed an inhibition of DNA replication that was less pronounced than that in normal cells and characteristic of AT fibroblasts. However, the patients are clinically very different from AT patients, not showing any signs of neurocutaneous symptoms. Genetic complementation studies in fused cells, with the radioresistant DNA synthesis used as a marker, showed that the patients' cells could complement representatives of all presently known AT complementation groups. Furthermore, they were shown to constitute a genetically heterogeneous group as well. It is concluded that these patients are similar to AT patients with respect to cytological parameters. The clinical differences between these patients and AT patients are a reflection of genetic heterogeneity. The data indicate that the patients suffer from a chromosome-instability syndrome that is distinct from AT

  15. Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention.

    Science.gov (United States)

    Ross, Lynda J; Capra, Sandra; Baguley, Brenton; Sinclair, Kate; Munro, Kate; Lewindon, Peter; Lavin, Martin

    2015-08-01

    Ataxia-telangiectasia (A-T) is a rare genomic syndrome resulting in severe disability. Chronic childhood disorders can profoundly influence growth and development. Nutrition-related issues in A-T are not well described, and there are no nutritional guidelines. This study investigated the nutrition-related characteristics and behaviours of Australian A-T patients attending a national clinic. A cross-sectional analysis of 13 A-T patients (nine females; aged: 4-23 years): nutritional status was assessed by anthropometric and body cell mass (BCM) calculations. Parents reported their child's diet history and physical and behavioural factors that affect nutrition including fatigue and need for assistance. Ten (77%) had short stature (height for age z scores nutritional barriers as chronic tiredness and the need for care giver assistance with meals. This study confirms profound malnutrition in Australian A-T patients. Poor intakes and diet quality suggest the need for early nutrition intervention. Ongoing support for families and early discussions on tube feeding are required to address changing needs in childhood and likely nutritional decline into adulthood. A prospective study is required to assess feasibility and effectiveness of nutrition interventions in young people with A-T. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  16. Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients

    Energy Technology Data Exchange (ETDEWEB)

    Barral, Matthias; Sirol, Marc; Hamzi, Lounis; Gayat, Etienne; Boudiaf, Mourad [Hopital Lariboisiere-APHP, Department of Abdominal Imaging, Paris (France); Place, Vinciane [Hopital Lariboisiere-APHP, Department of Abdominal Imaging, Paris (France); Universite Diderot-Paris 7, UFR de Medecine, Paris (France); Borsik, Michel [Hopital Lariboisiere-APHP, Deparment of Ear, Nose and Throat, Paris (France); Soyer, Philippe [Hopital Lariboisiere-APHP, Department of Abdominal Imaging, Paris (France); Universite Diderot-Paris 7, UFR de Medecine, Paris (France); Unite 965 INSERM/Paris7, Hopital Lariboisiere-APHP, Paris (France)

    2012-01-15

    To analyse quantitatively and qualitatively asymptomatic hepatic and pancreatic involvement in hereditary haemorrhagic telangiectasia (HHT) using 64-section helical CT. The 64-section helical CT examinations of 19 patients with HHT (8 men, 11 women; mean age, 58.6 years) were quantitatively and qualitatively analysed and compared to those of 19 control subjects who were matched for age and sex. Comparisons were made using univariate analysis. Dilated and tortuous intrahepatic arterial branches was the most discriminating independent variable (P < 0.0001) and had the highest specificity (100%; 19/19; 95%CI: 82%-100%) and accuracy (97%; 37/38; 95%CI: 86%-100%) for the diagnosis of HHT. Heterogeneous enhancement of hepatic parenchyma, intrahepatic telangiectases, hepatic artery to hepatic vein shunting, hepatic artery enlargement (i.e. diameter > 6.5 mm) and portal vein enlargement (i.e. diameter > 13 mm) were other variables that strongly correlated with the presence of HHT. Intrapancreatic telangiectases and arteriovenous malformations were found in 42% and 16% of patients with HHT, respectively. Liver and pancreatic involvement in asymptomatic HHT patients is associated with myriad suggestive findings on 64-section helical CT. It can be anticipated that familiarity with these findings would result in more confident diagnosis of HHT. (orig.)

  17. Absceso intramedular en paciente con enfermedad de Rendu-Osler-Weber Spinal abscess in a patient with hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Lorena V Maldonado

    2007-12-01

    Full Text Available La enfermedad de Rendu-Osler-Weber es una enfermedad autosómica dominante que se manifiesta por telangiectasias en piel y mucosas y malformaciones arteriovenosas en diversos órganos. El compromiso neurológico puede ocurrir por la presencia de malformaciones arterio-venosas cerebrales, hemorragia intracraneal, y más habitualmente por accidentes cerebrovasculares isquémicos y abscesos cerebrales secundarios a embolia paradojal, en pacientes con malformaciones arteriovenosas pulmonares. El absceso intramedular es una entidad rara, inusual como complicación de la enfermedad de Rendu-Osler-Weber. Presentamos el caso de una mujer de 56 años de edad, con antecedentes familiares de enfermedad de Rendu-Osler- Weber, que ingresó a Terapia Intensiva con cuadriplejia aguda e hipoxemia, en quien se diagnosticó fístulas arteriovenosas pulmonares y un absceso intramedular cervical.Rendu-Osler-Weber syndrome is an autosomal dominant disorder characterized by multiple skin and mucosal telangiectasis and multiorgan arteriovenous malformations. Neurological manifestations may occur because of cerebral arteriovenous malformations, intracranial hemorrhage, and most commonly by ischemic stroke and brain abscess secondary to paradoxical embolization in patients with pulmonary arteriovenous malformations. Intramedullary abscess is a rare, unusual condition, in Rendu-Osler-Weber syndrome. We report the case of a 56 years old woman, with a familial history of Rendu-Osler-Weber syndrome, admitted to intensive care with acute quadriplegia and hypoxemia. Our diagnosis was pulmonary arteriovenous malformations and intramedullary abscess.

  18. Normal rejoining of DNA strand breaks in ataxia telangiectasia fibroblast lines after low x-ray exposure

    International Nuclear Information System (INIS)

    Hariharan, P.V.; Eleczko, S.; Smith, B.P.; Paterson, M.C.

    1981-01-01

    The alkaline elution method was used to measure the enzymatic repair of x-ray-induced DNA strand breaks in skin fibroblasts derived from human subjects afflicted with ataxia telangiectasia (AT). Monolayer cultures of normal control and AT cell lines were exposed acutely to moderately lethal (250-rad) and highly lethal (1250-rad) doses of 250-kV x rays under aerobic conditions. Upon receiving 250 rad, the control fibroblasts from a clinically normal donor rejoined all detectable single-strand breaks (plus alkali-labile bonds) within 30 to 60 min of incubation. When challenged with 1250 rad the kinetics of strand rejoining by the normal control cells were biphasic. For both exposures, no significant difference in either the rate or the extent of strand rejoining was detected between the normal cell line (GM38) and three mutant cell lines (AT2BE, AT3BI, AT4BI) belonging to the three known genetic complementation groups in AT. It would thus appear that the enhanced radiosensitivity of cultured AT cells does not stem from faulty rejoining of radiogenic DNA strand breaks

  19. The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation

    International Nuclear Information System (INIS)

    Wit, J. de; Bootsma, D.; Jaspers, N.G.J.; Rijksverdedigingsorganisatie TNO, Rijswijk

    1981-01-01

    The rate of DNA synthesis was studied in normal cell strains and in strains from patients suffering from the inherited disorder ataxia telangiectasia (AT). After exposure to relatively low doses of oxic X-rays (0- 4 krad) DNA synthesis was depressed in AT cell strains to a significantly lesser extent than in normal cells. This response was observed in both an excision-deficient and an excision-proficient strain. In contrast, there was no difference in DNA-synthesis inhibition between AT and normal cells after UV exposure. After X-irradiation of cells from patients with xeroderma pigmentosum, both complementation group A and XP variants, the observed rate of DNA synthesis was equal to that in normal cells. An exception was the strain XP3BR which has been shown to be X-ray-sensitive. This strain exhibited diminished DNA synthesis inhibition after X-ray doses below 1 krad. These data suggest a relationship between hypersensitivity to X-rays and diminished depression of DNA synthesis. (orig.)

  20. [Paradoxical brain embolism mediated through a pulmonary arteriovenous malformation with hereditary hemorrhagic telangiectasia in a Japanese patient].

    Science.gov (United States)

    Takeda, June; Todo, Kenichi; Yamamoto, Shiro; Yamagami, Hiroshi; Kawamoto, Michi; Kohara, Nobuo

    2012-01-01

    We report a case of paradoxical brain embolism mediated through a pulmonary arteriovenous malformation (PAVM) with hereditary hemorrhagic telangiectasia (HHT). A 25-year-old right handed man was admitted to our hospital after sudden headache and visual field abnormality. In neurologic examinations, he had left superior-quadrantanopsia. Laboratory findings showed iron deficiency anemia. Diffusion weighted images disclosed a high-signal-intensity area in the right occipito-temporal lobe, and intraarterial digital subtraction cerebral angiography revealed occlusion of the right posterior cerebral artery. Transesophageal echocardiography revealed continuous right-to-left shunt. We confirmed his history of spontaneous recurrent epistaxis and the first-degree relatives with epistaxis or PAVM. A contrast enhanced CT scan of the chest revealed a PAVM. The diagnosis of paradoxical brain embolism mediated through the PAVM with HHT was, thus, established. The PAVM was occluded by using embolization coils successfully. In Asian countries, the prevalence of PAVM with HHT is thought to be lower than in European countries. We should carefully take medical and family histories, especially epistaxis, in a young stroke patient.

  1. Abnormal levels of UV-induced unscheduled DNA synthesis in ataxia telangiectasia cells after exposure to ionizing radiation

    International Nuclear Information System (INIS)

    Jaspers, N.G.J.; Nederlandse Centrale Organisatie voor Toegepast Natuurwetenschappelijk Onderzoek, Rijswijk. Medical Biological Lab.); Bootsma, D.

    1982-01-01

    In cultured cells from normal individuals and from patients having ataxia telangiectasia (AT) the rate of unscheduled DNA synthesis (UDS) induced by UV light was investigated by autoradiography. The number of grains in 6 different AT cell strains was similar to that observed in normal cells. Exposure of normal cells to doses of X-rays up to 20 krad had no influence on the rate of UV-induced UDS. In contrast, the UV-induced UDS was significantly modified in AT cells by treatment with X-rays. In AT cell strains that were reported to have reduced levels of γ-ray-induced repair DNA synthesis ('excision-deficient' AT cells) the effect of X-rays on UV-induced UDS was inhibitory, whereas UV-induced UDS was stimulated by X-ray exposure in 'excision-proficient' AT cell strains. Different UV and X-ray dose-response relationships were seen in the two categories of AT cell strains. (orig./AJ)

  2. Identification of 4 ataxia telangiectasia cell lines hypersensitive to γ-irradiation but not to hydrogen peroxide

    International Nuclear Information System (INIS)

    Cantoni, O.; Sestili, P.; Santoro, M.P.; Tannoia, M.C.; Cattabeni, F.; Novelli, G.; Dallapiccola, B.; Fiorilli, M.

    1989-01-01

    The effct of hydrogen peroxide on the rate of semi-conservative DNA synthesis in ataxia telangiectasia (AT) and normal human lymphoblastoid cells was investigated. The rate of DNA synthesis in AT cells was not depressed to a lesser extent than in normal cells, as might have been expected since H 2O2 is a radiomimetic agent. On the contrary, 4 AT cell lines displayed a higher sensitivity to the inhibitory effect of H 2O2 on DNA synthesis than 2 normal cell lines. Comparable levels of cytotoxicity were detected in cell vaibility studies. Furthermore, neither the level of DNA breakage produced by H 2O2 , nor the rate of repair of these lesions was signigicantly different in normal and AT cells. Together, these results indicate that the AT cell lines utilized in this study are not hypersensitive to the oxidant. It is suggested that H-2-O-2 may not induce lethality via the direct ation of the hydroxyl radical (OH). (Author). 20 refs.; 3 figs.; 1 tab

  3. Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT).

    Science.gov (United States)

    Wirsching, Kornelia E C; Haubner, Frank; Kühnel, Thomas S

    2017-04-01

    The objective of the study was to evaluate the influence of temporary nasal occlusion (tNO) with hypoallergenic tape on the frequency and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). This prospective observational study included 20 HHT patients who were undergoing Nd:YAG laser therapy at regular intervals. Over a 3-month period, laser therapy was supplemented by tNO with hypoallergenic tape for 5 h/day on average. On a 0-10 numeric rating scale, the patients reported significantly greater satisfaction in epistaxis terms after tNO treatment, with mean scores of 5 before and 7 after 3-month tNO (p = 0.05). The Epistaxis Severity Score also fell significantly from a median of 3.59-2.43 after 3-month tNO compared with laser therapy alone (p = 0.01). The patients' hemoglobin levels remained stable during the study (median: 12.2 g/dL before tNO; median: 11.7 g/dL after tNO; p = 0.387). Overall, the present study confirms the positive influence of tNO on epistaxis in HHT patients and on subjective satisfaction. This simple and inexpensive strategy is therefore a helpful option, especially in addition to regular Nd:YAG laser therapy, and is recommended by the authors.

  4. An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia (HHT) 1 vs. HHT 2

    Science.gov (United States)

    Hunter, Benjamin N.; Timmins, Benjamin H.; McDonald, Jamie; Whitehead, Kevin J.; Ward, P. Daniel; Wilson, Kevin F.

    2015-01-01

    Objective Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia whose hallmark symptom is spontaneous recurrent epistaxis. Two major genetic sub-types of this syndrome are HHT1 and HHT2. Severity of epistaxis ranges from occasional low-volume bleeding to frequent large-volume hemorrhage. This study evaluated the severity and progression of epistaxis in HHT1 vs. HHT2. Study Design Retrospective cohort study Methods Retrospective chart review was performed for 183 genotyped HHT patients seen at our Center from 2010-2013. Data collected included epistaxis severity score (ESS), age of epistaxis onset, number and type of treatments, age at which treatments were sought, complete blood count values, ferritin, number of telangiectases, blood transfusions, iron therapy history, and patient demographics. Results 115 subjects with HHT2 were compared to 68 with HHT1. Subjects with HHT2 had a higher ESS compared to HHT1 (p=0.043) and a later age of onset of epistaxis (p=0.005). HHT2 subjects were more likely to use oral iron (p=0.032) and were more likely to seek interventions to control their epistaxis (p= 0.029). Conclusion HHT2 is associated with more severe epistaxis and a subsequent higher rate of interventions, requiring more aggressive therapy as compared to HHT1. PMID:26372311

  5. Complications from office sclerotherapy for epistaxis due to hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu).

    Science.gov (United States)

    Hanks, John E; Hunter, David; Goding, George S; Boyer, Holly C

    2014-05-01

    The aim of this study was to identify and evaluate adverse clinical outcomes following office-based sclerotherapy using sodium tetradecyl sulfate (STS) for epistaxis due to hereditary hemorrhagic telangiectasias (HHT or Osler-Weber-Rendu). A retrospective chart review of 36 adult patients treated with STS sclerotherapy for severe and/or recurrent epistaxis due to HHT was performed. A total of 153 separate treatment sessions were analyzed. Each patient underwent an average of 4.3 sessions with an average of 7 intralesional injections per session. Bleeding during the procedure was experienced by 8 patients with a maximum reported blood loss of 200 mL in 1 patient, but less than 50 mL in all others. Seven patients reported some postinjection pain, which included nasal, cheek, and eye pain. Nasal congestion, sneezing, and vasovagal responses were each noted to occur 2 times. No complications of postprocedural visual loss, deep venous thrombosis/pulmonary embolus, transient ischemic attack (TIA)/stroke, or anaphylaxis were encountered. Conventional therapies used in the management of HHT-related epistaxis, such as laser coagulation, septodermoplasty, selective arterial embolization, and Young's occlusion each have specific associated complications, including worsened epistaxis, septal perforation, foul odor, nasal crusting, and compromised nasal breathing. STS is a safe office-based treatment option for HHT-mediated epistaxis that is associated with exceedingly few of the aforementioned serious sequelae. © 2014 ARS-AAOA, LLC.

  6. The effect of caffeine on X-ray-induced mitotic delay in normal human and ataxia-telangiectasia fibroblasts

    International Nuclear Information System (INIS)

    Zampetti-Bosseler, F.; Scott, D.

    1985-01-01

    The authors previously showed that radiation-sensitive fibroblasts from ataxia-telangiectasia (A-T) patients sustain less G 2 delay after X-irradiation than normal fibroblasts. Caffeine is known to reduce the amount of X-ray-induced delay in various mammalian cell types. It is proposed that A-T cells have an altered chromatin structure, similar to that of caffeine-treated normal cells and that this results in a failure of A-T cells to delay their progression through the cell cycle to allow time for DNA repair. The authors now show that caffeine treatment after X-irradiation reduces G 2 delay in both A-T and normal cells. The authors confirm the results previously obtained on lymphocytes that caffeine potentiates the chromosome-damaging effects of X-rays in both A-T and normal fibroblasts. These and other data suggest that the radiation responses of A-T cells and of caffeine-treated normal cells are caused by different mechanisms. (Auth.)

  7. Treatment of Non-neovascular Idiopathic Macular Telangiectasia Type 2 with Intravitreal Ranibizumab: Results of a Phase II Clinical Trial

    Science.gov (United States)

    Toy, Brian C.; Koo, Euna; Cukras, Catherine; Meyerle, Catherine B.; Chew, Emily Y.; Wong, Wai T.

    2015-01-01

    Purpose To evaluate the safety and preliminary efficacy of intravitreal ranibizumab for non-neovascular idiopathic macular telangiectasia, type 2 (IMT2). Methods Single-center, open-label phase II clinical trial enrolling 5 participants with bilateral non-neovascular IMT2. Intravitreal ranibizumab (0.5mg) was administered every 4 weeks in the study eye for 12 months with the contralateral eye observed. Outcome measures included changes in: best corrected visual acuity (BCVA), area of late-phase leakage on fluorescein angiography (FA), and retinal thickness on optical coherence tomography (OCT). Results The study treatment was well-tolerated and associated with few adverse events. Change in BCVA at 12 months was not significantly different between treated study eyes (0.0±7.5 letters) and control fellow eyes (+2.2±1.9 letters). However, decreases in the area of late-phase FA leakage (−33±20% for study eyes, +1±8% for fellow eyes) and in OCT central subfield retinal thickness (−11.7±7.0% for study eyes and −2.9±3.5% for fellow eyes) were greater in study eyes compared to fellow eyes. Conclusions Despite significant anatomical responses to treatment, functional improvement in visual acuity was not detected. Intravitreal ranibizumab administered monthly over a time course of 12 months is unlikely to provide a general and significant benefit to patients with non-neovascular IMT2. PMID:22266930

  8. Kinetics of chromatid aberrations in G2 ataxia-telangiectasia cells exposed to X-rays and ara A

    International Nuclear Information System (INIS)

    Mozdarani, Hossein; Bryant, P.E.

    1989-01-01

    The cytogenetic effects of X-rays alone or in combination with 9-β-D-arabinofuranosyladenine (ara A) were studied in an immortalized fibroblastic line of ataxia-telangiectasia (A-T) cells. It is postulated that the kinetics of disappearance (rejoining) of chromatid deletions with postirradiation incubation time reflects the underlying repair of dsb, and is inhibited by ara A. The rejoining kinetics for deletions in A-T was similar to that found in a previous study of normal human fibroblasts (Mozdarani and Bryant 1987). The number of deletions in X-irradiated A-T cells at 1.5 h before fixation was found to be higher by a factor of approximately 2 than that found previously in normals, indicating that in A-T a higher rate of conversion of dsb into chromatid deletions occurs. The frequency of exchanges induced in G2 A-T cells was similarly enhanced but, unlike the situation in normal cells, ara A was found to cause only a slight increase in this frequency. (author)

  9. Hemorrhage-Adjusted Iron Requirements, Hematinics and Hepcidin Define Hereditary Hemorrhagic Telangiectasia as a Model of Hemorrhagic Iron Deficiency

    Science.gov (United States)

    Finnamore, Helen; Le Couteur, James; Hickson, Mary; Busbridge, Mark; Whelan, Kevin; Shovlin, Claire L.

    2013-01-01

    Background Iron deficiency anemia remains a major global health problem. Higher iron demands provide the potential for a targeted preventative approach before anemia develops. The primary study objective was to develop and validate a metric that stratifies recommended dietary iron intake to compensate for patient-specific non-menstrual hemorrhagic losses. The secondary objective was to examine whether iron deficiency can be attributed to under-replacement of epistaxis (nosebleed) hemorrhagic iron losses in hereditary hemorrhagic telangiectasia (HHT). Methodology/Principal Findings The hemorrhage adjusted iron requirement (HAIR) sums the recommended dietary allowance, and iron required to replace additional quantified hemorrhagic losses, based on the pre-menopausal increment to compensate for menstrual losses (formula provided). In a study population of 50 HHT patients completing concurrent dietary and nosebleed questionnaires, 43/50 (86%) met their recommended dietary allowance, but only 10/50 (20%) met their HAIR. Higher HAIR was a powerful predictor of lower hemoglobin (p = 0.009), lower mean corpuscular hemoglobin content (pstopped. Conclusions/significance HAIR values, providing an indication of individuals’ iron requirements, may be a useful tool in prevention, assessment and management of iron deficiency. Iron deficiency in HHT can be explained by under-replacement of nosebleed hemorrhagic iron losses. PMID:24146883

  10. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage Syndrome by the assay of radioresistant DNA synthesis

    International Nuclear Information System (INIS)

    Kleijer, W.J.; Kraan, M. van der; Los, F.J.; Jaspers, N.G.J.

    1994-01-01

    Prenatal diagnosis was performed in 16 pregnancies at risk of ataxia-telangiectasia (A-T) or Nijmegen Breakage Syndrome (NBS). Radioresistant DNA synthesis (RDS) was investigated in cultured chorionic villus (CV) cells and/or amniotic fluid (AF) cells. In four pregnancies, an affected foetus was diagnosed with increased RDS in cultured CV cells. In three of the four cases confirmation of the diagnosis was obtained by analysis of AF cells and/or skin fibroblasts from the foetus cultured after termination of the pregnancy; in the fourth case a fibroblast culture from the aborted foetus failed. In one case, only AF cells could be analysed in a late stage of pregnancy; pregnancy was terminated due to intermediate/equivocal results but the foetus fibroblasts showed normal RDS. Normal RDS was demonstrated in the other 11 pregnancies at 25% risk either by analysis of CB cells (nine cases) or of AF cells (two cases). In some cases the (normal) results on the CV cells were corroborated by subsequent analysis of Af cells. The results suggest that RDS analysis of CV cells allows reliable prenatal diagnosis of A-T/NBS. However, amniocentesis may be necessary to confirm normal results on CV cells if the foetus is female (because of the risk of maternal cell contamination) or in the rare case of equivocal results. (author)

  11. Early capillary flux homogenization in response to neural activation.

    Science.gov (United States)

    Lee, Jonghwan; Wu, Weicheng; Boas, David A

    2016-02-01

    This Brief Communication reports early homogenization of capillary network flow during somatosensory activation in the rat cerebral cortex. We used optical coherence tomography and statistical intensity variation analysis for tracing changes in the red blood cell flux over hundreds of capillaries nearly at the same time with 1-s resolution. We observed that while the mean capillary flux exhibited a typical increase during activation, the standard deviation of the capillary flux exhibited an early decrease that happened before the mean flux increase. This network-level data is consistent with the theoretical hypothesis that capillary flow homogenizes during activation to improve oxygen delivery. © The Author(s) 2015.

  12. Applications of capillary optics for focused ion beams

    International Nuclear Information System (INIS)

    Umezawa, Kenji

    2014-01-01

    This article introduces applications of focused ion beams (∼1 μm) with glass capillaries systems. A first report on the interaction between ion beams and glass capillaries was published in 1996. The guiding capabilities of glass capillaries were discovered due to ion reflection from inner wall of glass surfaces. Meanwhile, the similar optics have been already realized in focusing X-rays using glass capillaries. The basic technology of X-rays optics using glass capillaries had been developed in the 1980's and 1900's. Also, low energy atom scattering spectroscopy for insulator material analysis will be mentioned. (author)

  13. Design of Capillary Flows with Spatially Graded Porous Films

    Science.gov (United States)

    Joung, Young Soo; Figliuzzi, Bruno Michel; Buie, Cullen

    2013-11-01

    We have developed a new capillary tube model, consisting of multi-layered capillary tubes oriented in the direction of flow, to predict capillary speeds on spatially graded porous films. Capillary flows through thin porous media have been widely utilized for small size liquid transport systems. However, for most media it is challenging to realize arbitrary shapes and spatially functionalized micro-structures with variable flow properties. Therefore, conventional media can only be used for capillary flows obeying Washburn's equation and the modifications thereof. Given this background, we recently developed a method called breakdown anodization (BDA) to produce highly wetting porous films. The resulting surfaces show nearly zero contact angles and fast water spreading speed. Furthermore, capillary pressure and spreading diffusivity can be expressed as functions of capillary height when customized electric fields are used in BDA. From the capillary tube model, we derived a general capillary flow equation of motion in terms of capillary pressure and spreading diffusivity. The theoretical model shows good agreement with experimental capillary flows. The study will provide novel design methodologies for paper-based microfluidic devices.

  14. Capillary Interactions between a Probe Tip and a Nanoparticle

    International Nuclear Information System (INIS)

    Li-Ning, Sun; Le-Feng, Wang; Wei-Bin, Rong

    2008-01-01

    To understand capillary interactions between probe tips and nanoparticles under ambient conditions, a theoretical model of capillary forces between them is developed based on the geometric relations. It is found that the contribution of surface tension force to the total capillary force attains to similar order of magnitude as the capillary pressure force in many cases. It is also shown that the tip shape and the radial distance of the meniscus have great influence on the capillary force. The capillary force decreases with the increasing separation distances, and the variance of the contact angles may change the magnitudes of capillary forces several times at large radial distances. The applicability of the symmetric meniscus approximation is discussed. (condensed matter: structure, mechanical and thermal properties)

  15. Hereditary haemorrhagic telangiectasia: study of hepatic vascular alterations with multi-detector row helical CT and reconstruction programs; Telangiectasia emorragica ereditaria: TC multidetettore multifasica e programmi di ricostruzione nello studio delle alterazioni vascolari epatiche

    Energy Technology Data Exchange (ETDEWEB)

    Memeo, Maurizio; Stabile Ianora, Amato Antonio; Scaldapane, Arnaldo; Rotondo, Antonio; Angelelli, Giuseppe [Policlinico Universitario, Bari (Italy). DiMIMP Sezione di Diagnostica per Immagini; Suppressa, Patrizia; Cirulli, Anna; Sabba' , Carlo [Policlinico Universitario, Bari (Italy). Centro Interdipartimentale per lo studio dell' HHT

    2005-02-01

    Purpose: To evaluate hepatic alterations in patients affected by Hereditary Haemorrhagic Telangiectasia (HHT) by using multidetector row helical CT (MDCT) and new reconstruction programs. Materials and methods: An MDCT multiphasic study of the liver was performed in 105 consecutive patients: 89 considered to be affected by HHT and 16 with suspicion of disease alone. The scan delay was determined by using a test bolus of contrast material. The CT examination was performed with a triphasic technique (double arterial phase and portal venous phase). multiplanar and angiographic reconstructions were then obtained, and the images checked for the presence of shunts, hepatic perfusion disorders, vascular lesions (telangiectasis and large confluent vascular masses), indirect signs of portal hypertension, and anatomical vascular variants. Results: Hepatic vascular alterations were found in 78/105 cases (67/89) patients affected by HHT and 11/16 patients with clinical suspicion alone). Therefore HHT diagnosis was excluded in 5 patients. 78/100 (78%) patients with HHT had intrahepatic vascular alterations: arterioportal shunts in 40/78 (51.2%) arteriosystemic shunts in 16/78 (20.5%) and both shunt types in 22/78 (28.3%). Intraparenchymal perfusion disorders were found in 46/78 (58.9%) patients. Telangiectasis were recognised in 50/78 (64.1%) patients. Large confluent vascular masses (LCVMs) were identified in 20/78 (25.6%) patients. indirect signs of portal hypertension were found in 46/78 (58.9%) cases. Variant hepatic arterial anatomy was present in 38/100 cases (38%). Conclusions: Multiphasic MDCT and the new reconstruction programs enable the identification and characterisation of the complex vascular alterations typical of HHT. [Italian] Scopo: Valutare le alterazioni epatiche nei pazienti affetti da Telangiectasia Emorraica Ereditaria (TEE) utilizzando una TC multidetettore (TCMD) ed in nuovi programmi di ricostruzione. Materiale e metodi: E' stato eseguito uno

  16. Microfluidic chip-capillary electrophoresis devices

    CERN Document Server

    Fung, Ying Sing; Du, Fuying; Guo, Wenpeng; Ma, Tongmei; Nie, Zhou; Sun, Hui; Wu, Ruige; Zhao, Wenfeng

    2015-01-01

    Capillary electrophoresis (CE) and microfluidic chip (MC) devices are relatively mature technologies, but this book demonstrates how they can be integrated into a single, revolutionary device that can provide on-site analysis of samples when laboratory services are unavailable. By introducing the combination of CE and MC technology, Microfluidic Chip-Capillary Electrophoresis Devices broadens the scope of chemical analysis, particularly in the biomedical, food, and environmental sciences. The book gives an overview of the development of MC and CE technology as well as technology that now allows for the fabrication of MC-CE devices. It describes the operating principles that make integration possible and illustrates some achievements already made by the application of MC-CE devices in hospitals, clinics, food safety, and environmental research. The authors envision further applications for private and public use once the proof-of-concept stage has been passed and obstacles to increased commercialization are ad...

  17. Demonstration of Nautilus Centripetal Capillary Condenser Technology

    Science.gov (United States)

    Wheeler, RIchard; Tang, Linh; Wambolt, Spencer; Golliher, Eric; Agui, Juan

    2016-01-01

    This paper describes the results of a proof of concept effort for development of a Nautilus Centripetal Capillary Condenser (NCCC or NC3) used for microgravity compatible water recovery from moist air with integral passive phase separation. Removal of liquid condensate from the air stream exiting a condenser is readily performed here on Earth. In order to perform this function in space however, without gravity or mechanical action, other tactics including utilization of inertial, drag and capillary forces are required. Within the NC3, liquid water forms via condensation on cold condenser surfaces as humid air passes along multiple spiral channels, each in its own plane, all together forming a stacked plate assembly. Non-mechanical inertial forces are employed to transfer condensate, as it forms, via centripetal action to the outer perimeter of each channel. A V-shaped groove, constructed on this outer edge of the spiral channel, increases local capillary forces thereby retaining the liquid. Air drag then pulls the liquid along to a collection region near the center of the device. Dry air produced by each parallel spiral channel is combined in a common orthogonal, out-of-plane conduit passing down the axial center of the stacked device. Similarly, the parallel condensate streams are combined and removed from the condenser/separator through yet another out-of-plane axial conduit. NC3 is an integration of conventional finned condenser operation, combined with static phase separation and capillary transport phenomena. A Mars' transit mission would be a logical application for this technology where gravity is absent and the use of vibrating, energy-intensive, motor-driven centrifugal separators is undesired. Here a vapor stream from either the Heat Melt Compactor or the Carbon dioxide Reduction Assembly, for example, would be dried to a dew point of 10 deg using a passive NC3 condenser/separator with the precious water condensate recycled to the water bus.

  18. Bacterial surface layer proteins as a novel capillary coating material for capillary electrophoretic separations

    Energy Technology Data Exchange (ETDEWEB)

    Moreno-Gordaliza, Estefanía, E-mail: emorenog@ucm.es [Division of Analytical Biosciences, Leiden Academic Centre for Drug Research, Universiteit Leiden, Einsteinweg 55, 2300, RA, Leiden (Netherlands); Department of Analytical Chemistry, Faculty of Chemistry, Universidad Complutense de Madrid, Avda. Complutense s/n, 28040, Madrid (Spain); Stigter, Edwin C.A. [Division of Analytical Biosciences, Leiden Academic Centre for Drug Research, Universiteit Leiden, Einsteinweg 55, 2300, RA, Leiden (Netherlands); Department of Molecular Cancer Research, Universitair Medisch Centrum Utrecht, Wilhelmina Kinder Ziekenhuis, Lundlaan 6, 3584, EA Utrecht (Netherlands); Lindenburg, Petrus W.; Hankemeier, Thomas [Division of Analytical Biosciences, Leiden Academic Centre for Drug Research, Universiteit Leiden, Einsteinweg 55, 2300, RA, Leiden (Netherlands)

    2016-06-07

    A novel concept for stable coating in capillary electrophoresis, based on recrystallization of surface layer proteins on hydrophobized fused silica capillaries, was demonstrated. Surface layer protein A (SlpA) from Lactobacillus acidophilus bacteria was extracted, purified and used for coating pre-silanized glass substrates presenting different surface wettabilities (either hydrophobic or hydrophilic). Contact angle determination on SlpA-coated hydrophobic silica slides showed that the surfaces turned to hydrophilic after coating (53 ± 5°), due to a protein monolayer formation by protein-surface hydrophobic interactions. Visualization by atomic force microscopy demonstrated the presence of a SlpA layer on methylated silica slides displaying a surface roughness of 0.44 ± 0.02 nm. Additionally, a protein layer was visualized by fluorescence microscopy in methylated silica capillaries coated with SlpA and fluorescein isothiocyanate-labeled. The SlpA-coating showed an outstanding stability, even after treatment with 20 mM NaOH (pH 12.3). The electroosmotic flow in coated capillaries showed a partial suppression at pH 7.50 (3.8 ± 0.5 10{sup −9} m{sup 2} V{sup −1} s{sup −1}) when compared with unmodified fused silica (5.9 ± 0.1 10{sup −8} m{sup 2} V{sup −1} s{sup −1}). To demonstrate the potential of this novel coating, the SlpA-coated capillaries were applied for the first time for electrophoretic separation, and proved to be very suitable for the isotachophoretic separation of lipoproteins in human serum. The separations showed a high degree of repeatability (absolute migration times with 1.1–1.8% coefficient-of-variation (CV) within a day) and 2–3% CV inter-capillary reproducibility. The capillaries were stable for more than 100 runs at pH 9.40, and showed to be an exceptional alternative for challenging electrophoretic separations at long-term use. - Highlights: • New coating using recrystallized surface-layer proteins on

  19. Thermally stable dexsil-400 glass capillary columns

    International Nuclear Information System (INIS)

    Maskarinec, M.P.; Olerich, G.

    1980-01-01

    The factors affecting efficiency, thermal stability, and reproducibility of Dexsil-400 glass capillary columns for gas chromatography in general, and for polycyclic aromatic hydrocarbons (PAHs) in particular were investigated. Columns were drawn from Kimble KG-6 (soda-lime) glass or Kimox (borosilicate) glass. All silylation was carried out at 200 0 C. Columns were coated according to the static method. Freshly prepared, degassed solutions of Dexsil-400 in pentane or methylene chloride were used. Thermal stability of the Dexsil 400 columns with respect to gas chromatography/mass spectrometry (GC/MS) were tested. Column-to-column variability is a function of each step in the fabrication of the columns. The degree of etching, extent of silylation, and stationary phase film thickness must be carefully controlled. The variability in two Dexsil-400 capillary column prepared by etching, silylation with solution of hexa methyl disilazone (HMDS), and static coating is shown and also indicates the excellent selectivity of Dexsil-400 for the separation of alkylated aromatic compounds. The wide temperature range of Dexsil-400 and the high efficiency of the capillary columns also allow the analysis of complex mixtures with minimal prefractionation. Direct injection of a coal liquefaction product is given. Analysis by GC/MS indicated the presence of parent PAHs, alkylated PAHs, nitrogen and sulfur heterocycles, and their alkylated derivatives. 4 figures

  20. The order of condensation in capillary grooves

    International Nuclear Information System (INIS)

    Rascón, Carlos; Parry, Andrew O; Nürnberg, Robert; Pozzato, Alessandro; Tormen, Massimo; Bruschi, Lorenzo; Mistura, Giampaolo

    2013-01-01

    We consider capillary condensation in a deep groove of width L. The transition occurs at a pressure p co (L) described, for large widths, by the Kelvin equation p sat − p co (L) = 2σcosθ/L, where θ is the contact angle at the side walls and σ is the surface tension. The order of the transition is determined by the contact angle of the capped end θ cap ; it is continuous if the liquid completely wets the cap, and first-order otherwise. When the transition is first-order, corner menisci at the bottom of the capillary lead to a pronounced metastability, determined by a complementary Kelvin equation Δp(L) = 2σsinθ cap /L. On approaching the wetting temperature of the capillary cap, the corner menisci merge and a single meniscus unbinds from the bottom of the groove. Finite-size scaling shifts, crossover behaviour and critical singularities are determined at mean-field level and beyond. Numerical and experimental results showing the continuous nature of condensation for θ cap = 0 and the influence of corner menisci on adsorption isotherms are presented. (fast track communication)

  1. Capillary condensation of short-chain molecules.

    Science.gov (United States)

    Bryk, Paweł; Pizio, Orest; Sokolowski, Stefan

    2005-05-15

    A density-functional study of capillary condensation of fluids of short-chain molecules confined to slitlike pores is presented. The molecules are modeled as freely jointed tangent spherical segments with a hard core and with short-range attractive interaction between all the segments. We investigate how the critical parameters of capillary condensation of the fluid change when the pore width decreases and eventually becomes smaller than the nominal linear dimension of the single-chain molecule. We find that the dependence of critical parameters for a fluid of dimers and of tetramers on pore width is similar to that of the monomer fluid. On the other hand, for a fluid of chains consisting of a larger number of segments we observe an inversion effect. Namely, the critical temperature of capillary condensation decreases with increasing pore width for a certain interval of values of the pore width. This anomalous behavior is also influenced by the interaction between molecules and pore walls. We attribute this behavior to the effect of conformational changes of molecules upon confinement.

  2. The order of condensation in capillary grooves.

    Science.gov (United States)

    Rascón, Carlos; Parry, Andrew O; Nürnberg, Robert; Pozzato, Alessandro; Tormen, Massimo; Bruschi, Lorenzo; Mistura, Giampaolo

    2013-05-15

    We consider capillary condensation in a deep groove of width L. The transition occurs at a pressure p(co)(L) described, for large widths, by the Kelvin equation p(sat) - p(co)(L) = 2σ cosθ/L, where θ is the contact angle at the side walls and σ is the surface tension. The order of the transition is determined by the contact angle of the capped end θcap; it is continuous if the liquid completely wets the cap, and first-order otherwise. When the transition is first-order, corner menisci at the bottom of the capillary lead to a pronounced metastability, determined by a complementary Kelvin equation Δp(L) = 2σ sinθcap/L. On approaching the wetting temperature of the capillary cap, the corner menisci merge and a single meniscus unbinds from the bottom of the groove. Finite-size scaling shifts, crossover behaviour and critical singularities are determined at mean-field level and beyond. Numerical and experimental results showing the continuous nature of condensation for θcap = 0 and the influence of corner menisci on adsorption isotherms are presented.

  3. Proper Use of Capillary Number in Chemical Flooding

    Directory of Open Access Journals (Sweden)

    Hu Guo

    2017-01-01

    Full Text Available Capillary number theory is very important for chemical flooding enhanced oil recovery. The difference between microscopic capillary number and the microscopic one is easy to confuse. After decades of development, great progress has been made in capillary number theory and it has important but sometimes incorrect application in EOR. The capillary number theory was based on capillary tube bundles and Darcy’s law hypothesis, and this should always be kept in mind when used in chemical flooding EOR. The flow in low permeability porous media often shows obvious non-Darcy effects, which is beyond Darcy’s law. Experiments data from ASP flooding and SP flooding showed that remaining oil saturation was not always decreasing as capillary number kept on increasing. Relative permeability was proved function of capillary number; its rate dependence was affected by capillary end effects. The mobility control should be given priority rather than lowering IFT. The displacement efficiency was not increased as displacement velocity increased as expected in heavy oil chemical flooding. Largest capillary number does not always make highest recovery in chemical flooding in heterogeneous reservoir. Misuse of CDC in EOR included the ignorance of mobility ratio, Darcy linear flow hypothesis, difference between microscopic capillary number and the microscopic one, and heterogeneity caused flow regime alteration. Displacement of continuous oil or remobilization of discontinuous oil was quite different.

  4. Measurement of Capillary Radius and Contact Angle within Porous Media.

    Science.gov (United States)

    Ravi, Saitej; Dharmarajan, Ramanathan; Moghaddam, Saeed

    2015-12-01

    The pore radius (i.e., capillary radius) and contact angle determine the capillary pressure generated in a porous medium. The most common method to determine these two parameters is through measurement of the capillary pressure generated by a reference liquid (i.e., a liquid with near-zero contact angle) and a test liquid. The rate of rise technique, commonly used to determine the capillary pressure, results in significant uncertainties. In this study, we utilize a recently developed technique for independently measuring the capillary pressure and permeability to determine the equivalent minimum capillary radii and contact angle of water within micropillar wick structures. In this method, the experimentally measured dryout threshold of a wick structure at different wicking lengths is fit to Darcy's law to extract the maximum capillary pressure generated by the test liquid. The equivalent minimum capillary radii of different wick geometries are determined by measuring the maximum capillary pressures generated using n-hexane as the working fluid. It is found that the equivalent minimum capillary radius is dependent on the diameter of pillars and the spacing between pillars. The equivalent capillary radii of micropillar wicks determined using the new method are found to be up to 7 times greater than the current geometry-based first-order estimates. The contact angle subtended by water at the walls of the micropillars is determined by measuring the capillary pressure generated by water within the arrays and the measured capillary radii for the different geometries. This mean contact angle of water is determined to be 54.7°.

  5. Ataxia-telangiectasia mutated (ATM) deficiency decreases reprogramming efficiency and leads to genomic instability in iPS cells

    Energy Technology Data Exchange (ETDEWEB)

    Kinoshita, Taisuke [Department of Cell Differentiation, The Sakaguchi Laboratory, School of Medicine, Keio University, Tokyo 160-8582 (Japan); Nagamatsu, Go, E-mail: gonag@sc.itc.keio.ac.jp [Department of Cell Differentiation, The Sakaguchi Laboratory, School of Medicine, Keio University, Tokyo 160-8582 (Japan); Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012 (Japan); Kosaka, Takeo [Department of Urology, School of Medicine, Keio University, Tokyo 160-8582 (Japan); Takubo, Keiyo [Department of Cell Differentiation, The Sakaguchi Laboratory, School of Medicine, Keio University, Tokyo 160-8582 (Japan); Hotta, Akitsu [Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012 (Japan); Department of Reprogramming Science, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto (Japan); Ellis, James [Ontario Human iPS Cell Facility, Molecular Genetics, University of Toronto, Developmental and Stem Cell Biology, SickKids, Toronto, Canada MG1L7 (Canada); Suda, Toshio, E-mail: sudato@sc.itc.keio.ac.jp [Department of Cell Differentiation, The Sakaguchi Laboratory, School of Medicine, Keio University, Tokyo 160-8582 (Japan)

    2011-04-08

    Highlights: {yields} iPS cells were induced with a fluorescence monitoring system. {yields} ATM-deficient tail-tip fibroblasts exhibited quite a low reprogramming efficiency. {yields} iPS cells obtained from ATM-deficient cells had pluripotent cell characteristics. {yields} ATM-deficient iPS cells had abnormal chromosomes, which were accumulated in culture. -- Abstract: During cell division, one of the major features of somatic cell reprogramming by defined factors, cells are potentially exposed to DNA damage. Inactivation of the tumor suppressor gene p53 raised reprogramming efficiency but resulted in an increased number of abnormal chromosomes in established iPS cells. Ataxia-telangiectasia mutated (ATM), which is critical in the cellular response to DNA double-strand breaks, may also play an important role during reprogramming. To clarify the function of ATM in somatic cell reprogramming, we investigated reprogramming in ATM-deficient (ATM-KO) tail-tip fibroblasts (TTFs). Although reprogramming efficiency was greatly reduced in ATM-KO TTFs, ATM-KO iPS cells were successfully generated and showed the same proliferation activity as WT iPS cells. ATM-KO iPS cells had a gene expression profile similar to ES cells and WT iPS cells, and had the capacity to differentiate into all three germ layers. On the other hand, ATM-KO iPS cells accumulated abnormal genome structures upon continuous passages. Even with the abnormal karyotype, ATM-KO iPS cells retained pluripotent cell characteristics for at least 20 passages. These data indicate that ATM does participate in the reprogramming process, although its role is not essential.

  6. Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey.

    Science.gov (United States)

    Chaturvedi, Shruti; Clancy, Marianne; Schaefer, Nicole; Oluwole, Olalekan; McCrae, Keith R

    2017-05-01

    Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT. Associations with clinical and demographic variables with depression and PTSD were evaluated in a logistic regression model. A total of 222 individuals responded to the survey. Of these, 185 completed either the BDI II or PCL-5 and were included in the analysis. Median age was 54years and 142 (76.8%) were female. An existing diagnosis of depression, anxiety disorder and PTSD was present in 81 (43.8%), 59 (31.9%) and 16(8.6%) respondents, respectively. BDI-II scores>13 indicating at least mild depressive symptoms were present in 142 (88.7%) patients and 52 (28.1%) patients had a positive screen for PTSD (PCL-5 score≥38). On multivariable analysis, depression [OR 2.17 (95% CI 1.045-4.489), p=0.038], anxiety disorder [OR 2.232 (95% CI 1.066-4.676), p=0.033], and being unemployed [OR 2.234 (95% CI 1.46-4.714), p=0.019) were associated with PTSD. We report a high prevalence of depressive and PTSD symptoms in individuals with HHT. While selection bias may lead to overestimation of prevalence in this study, our results are concerning and clinicians should remain vigilant for signs of psychological distress and consider screening for these disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Ataxia-telangiectasia mutated (ATM) deficiency decreases reprogramming efficiency and leads to genomic instability in iPS cells

    International Nuclear Information System (INIS)

    Kinoshita, Taisuke; Nagamatsu, Go; Kosaka, Takeo; Takubo, Keiyo; Hotta, Akitsu; Ellis, James; Suda, Toshio

    2011-01-01

    Highlights: → iPS cells were induced with a fluorescence monitoring system. → ATM-deficient tail-tip fibroblasts exhibited quite a low reprogramming efficiency. → iPS cells obtained from ATM-deficient cells had pluripotent cell characteristics. → ATM-deficient iPS cells had abnormal chromosomes, which were accumulated in culture. -- Abstract: During cell division, one of the major features of somatic cell reprogramming by defined factors, cells are potentially exposed to DNA damage. Inactivation of the tumor suppressor gene p53 raised reprogramming efficiency but resulted in an increased number of abnormal chromosomes in established iPS cells. Ataxia-telangiectasia mutated (ATM), which is critical in the cellular response to DNA double-strand breaks, may also play an important role during reprogramming. To clarify the function of ATM in somatic cell reprogramming, we investigated reprogramming in ATM-deficient (ATM-KO) tail-tip fibroblasts (TTFs). Although reprogramming efficiency was greatly reduced in ATM-KO TTFs, ATM-KO iPS cells were successfully generated and showed the same proliferation activity as WT iPS cells. ATM-KO iPS cells had a gene expression profile similar to ES cells and WT iPS cells, and had the capacity to differentiate into all three germ layers. On the other hand, ATM-KO iPS cells accumulated abnormal genome structures upon continuous passages. Even with the abnormal karyotype, ATM-KO iPS cells retained pluripotent cell characteristics for at least 20 passages. These data indicate that ATM does participate in the reprogramming process, although its role is not essential.

  8. Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome

    Directory of Open Access Journals (Sweden)

    Barbara Pietrucha

    2017-01-01

    Full Text Available This study compared the antioxidant status and major lipophilic antioxidants in patients with ataxia-telangiectasia (AT and Nijmegen breakage syndrome (NBS. Total antioxidant status (TAS, total oxidant status (TOS, oxidative stress index (OSI, and concentrations of coenzyme Q10 (CoQ10 and vitamins A and E were estimated in the plasma of 22 patients with AT, 12 children with NBS, and the healthy controls. In AT patients, TAS (median 261.7 μmol/L was statistically lower but TOS (496.8 μmol/L was significantly elevated in comparison with the healthy group (312.7 μmol/L and 311.2 μmol/L, resp.. Tocopherol (0.8 μg/mL and CoQ10 (0.1 μg/mL were reduced in AT patients versus control (1.4 μg/mL and 0.3 μg/mL, resp.. NBS patients also displayed statistically lower TAS levels (290.3 μmol/L, while TOS (404.8 μmol/L was comparable to the controls. We found that in NBS patients retinol concentration (0.1 μg/mL was highly elevated and CoQ10 (0.1 μg/mL was significantly lower in comparison with those in the healthy group. Our study confirms disturbances in redox homeostasis in AT and NBS patients and indicates a need for diagnosing oxidative stress in those cases as a potential disease biomarker. Decreased CoQ10 concentration found in NBS and AT indicates a need for possible supplementation.

  9. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome

    Directory of Open Access Journals (Sweden)

    Mateusz Maciejczyk

    2017-04-01

    Full Text Available Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T, Bloom syndrome (BS and Nijmegen breakage syndrome (NBS are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis. Recent studies indicate new, alternative sources of oxidative stress in A-T, BS and NBS cells, including NADPH oxidase 4 (NOX4, oxidised low-density lipoprotein (ox-LDL or Poly (ADP-ribose polymerases (PARP. Mitochondrial abnormalities such as changes in the ultrastructure and function of mitochondria, excess mROS production as well as mitochondrial damage have also been reported in A-T, BS and NBS cells. A-T, BS and NBS cells are inextricably linked to high levels of reactive oxygen species (ROS, and thereby, chronic oxidative stress may be a major phenotypic hallmark in these diseases. Due to the presence of mitochondrial disturbances, A-T, BS and NBS may be considered mitochondrial diseases. Excess activity of antioxidant enzymes and an insufficient amount of low molecular weight antioxidants indicate new pharmacological strategies for patients suffering from the aforementioned diseases. However, at the current stage of research we are unable to ascertain if antioxidants and free radical scavengers can improve the condition or prolong the survival time of A-T, BS and NBS patients. Therefore, it is necessary to conduct experimental studies in a human model.

  10. Treatment of severe refractory epistaxis in hereditary hemorrhagic telangiectasia using a two-flap nasal closure method

    Science.gov (United States)

    Timmins, Benjamin H.; Hunter, Benjamin N.; Wilson, Kevin F.; Ward, P. Daniel

    2016-01-01

    Background Nasal closure has been shown to effectively manage severe epistaxis refractory to other treatments in patients with hereditary hemorrhagic telangiectasia (HHT). The nasal closure procedure may be underutilized due to its surgical complexity and flap breakdown. Methods Retrospective review of thirteen HHT patients treated for severe epistaxis with nasal closure between 2005 and 2013. Operating room (OR) time, need for revision surgery, pre- and post-procedure epistaxis severity score (ESS), complete blood count values, and Glasgow Benefit Inventory (GBI) questionnaire results were collected for each patient. The technique is described. We characterize a typical nasal closure patient and compare outcomes based on our experience with the traditional three-flap closure and a simplified two-flap nasal closure procedure. Results The average candidate for nasal closure in this series had an ESS of 7.88, Hgb of 8.3 g/dL, and received multiple transfusions, iron therapy, and cautery/coagulation procedures. Average ESS subsequent to nasal closure using the two flap method is 0.92 and mean GBI score is 56.3. Comparison of five patients who underwent the traditional three-flap nasal closure procedure and eight patients receiving the two flap nasal closure showed no significant difference in post-op ESS or GBI metrics. Mean operating room times of the traditional and simplified methods were 3.12 hours and 1.44 hours (p=0.0001). Mean time to first revision for eight nasal closure patients is 21.5 months. Conclusion In short-term follow-up, the two-flap procedure has shown comparable effectiveness with significantly reduced complexity and operative time compared to the traditional nasal closure method. PMID:26751606

  11. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

    Science.gov (United States)

    Gaillard, S; Dupuis-Girod, S; Boutitie, F; Rivière, S; Morinière, S; Hatron, P-Y; Manfredi, G; Kaminsky, P; Capitaine, A-L; Roy, P; Gueyffier, F; Plauchu, H

    2014-09-01

    Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder associated with abnormal angiogenesis and disabling epistaxis. Tranexamic acid (TA) has been widely used in the treatment of these severe bleeds but with no properly designed trial. To demonstrate the efficacy of TA in epistaxis in HHT patients and to explore its safety of use. A randomized, placebo-controlled, double-blind, cross-over trial was conducted. Participants were randomized to receive TA (3 g a day) then placebo or the opposite sequence. The main analysis compared intra-individual mean duration of epistaxis under TA vs. placebo on a log scale. The primary outcome was the mean duration of epistaxis per month, assessed with specific grids to be completed by participants. The number of epistaxis episodes was recorded as a secondary outcome. A total of 118 randomized patients contributed to the statistical analysis. The mean duration of epistaxis per month was significantly shorter with TA than placebo (0.19 on the log scale; SD = 0.07; P = 0.005), corresponding to a decrease of 17.3% (15.7 min) in the duration of epistaxis per month (CI 95%, 5.5-27.6). The median number of epistaxis episodes per month was 22.1 episodes in the placebo arm vs. 23.3 episodes in the TA arm. No thrombophlebitis was observed. In the ATERO study, we demonstrated a significant decrease in the duration of epistaxis in HHT patients taking TA. No safety issues were recorded in our cohort of patients. © 2014 International Society on Thrombosis and Haemostasis.

  12. Hereditary haemorrhagic telangiectasia: study of hepatic vascular alterations with multi-detector row helical CT and reconstruction programs

    International Nuclear Information System (INIS)

    Memeo, Maurizio; Stabile Ianora, Amato Antonio; Scaldapane, Arnaldo; Rotondo, Antonio; Angelelli, Giuseppe; Suppressa, Patrizia; Cirulli, Anna; Sabba', Carlo

    2005-01-01

    Purpose: To evaluate hepatic alterations in patients affected by Hereditary Haemorrhagic Telangiectasia (HHT) by using multidetector row helical CT (MDCT) and new reconstruction programs. Materials and methods: An MDCT multiphasic study of the liver was performed in 105 consecutive patients: 89 considered to be affected by HHT and 16 with suspicion of disease alone. The scan delay was determined by using a test bolus of contrast material. The CT examination was performed with a triphasic technique (double arterial phase and portal venous phase). multiplanar and angiographic reconstructions were then obtained, and the images checked for the presence of shunts, hepatic perfusion disorders, vascular lesions (telangiectasis and large confluent vascular masses), indirect signs of portal hypertension, and anatomical vascular variants. Results: Hepatic vascular alterations were found in 78/105 cases (67/89) patients affected by HHT and 11/16 patients with clinical suspicion alone). Therefore HHT diagnosis was excluded in 5 patients. 78/100 (78%) patients with HHT had intrahepatic vascular alterations: arterioportal shunts in 40/78 (51.2%) arteriosystemic shunts in 16/78 (20.5%) and both shunt types in 22/78 (28.3%). Intraparenchymal perfusion disorders were found in 46/78 (58.9%) patients. Telangiectasis were recognised in 50/78 (64.1%) patients. Large confluent vascular masses (LCVMs) were identified in 20/78 (25.6%) patients. indirect signs of portal hypertension were found in 46/78 (58.9%) cases. Variant hepatic arterial anatomy was present in 38/100 cases (38%). Conclusions: Multiphasic MDCT and the new reconstruction programs enable the identification and characterisation of the complex vascular alterations typical of HHT [it

  13. Evaluation of Tillandsia capillaris Ruiz amd Pav. f. capillaris as biomonitor of atmospheric pollution in Argentina

    Energy Technology Data Exchange (ETDEWEB)

    Pignata, M.L. [Univ. Nacional de Cordoba, Cordoba (Argentina). Facultad de Ciencias Exactas, Fisicas y Naturales]|[Instituto Multidisciplinario de Biologia Vegetal (IMBIV-UNC), Cordoba (Argentina); Wannaz, E.D.; Martinez, M.S.; Caminotti, G. [Univ. Nacional de Cordoba, Cordoba (Argentina). Facultad de Ciencias Exactas, Fisicas y Naturales

    2002-07-01

    The behaviour of Tillandsia capillaris Ruiz and Pav. f. capillaris, when exposed to atmospheric pollutants, was assessed by measuring chemical parameters indicating foliar damage and the contents of some heavy metals. Samples were transplanted to three sites in the City of Cordoba and were collected back after 15, 30, 60 and 90 days of exposure. At the same time, samples coming from the collection site were analyzed for each of said exposure times. Chlorophylls, hydroperoxy conjugated dienes, water contents, malondialdehyde, sulfur, Cu, Pb, Ni, Co, Mn, Zn and Fe were measured in the samples. A Foliar Damage Index was calculated from some of these parameters. (orig.)

  14. Rejoining of DNA double-strand breaks in human fibroblasts and its impairment in one ataxia telangiectasia and two Fanconi strains

    International Nuclear Information System (INIS)

    Coquerelle, T.M.; Weibezahn, K.F.

    1981-01-01

    Using the technique of neutral elution through polycarbonate filters as a measure of DNA length, and hence of the number of double-strand breaks incurred as a result of radiation damage, we found that normal human fibroblasts rejoin 50% of all breaks within only 3 min (37 degrees C). This fast rejoining was impaired in fibroblasts from one patient with Ataxia telangiectasia and in fibroblasts from two patients with Fanconi's anemia. Also the number of residual breaks after several hours of repair was higher than in control cells. Other cases with the same diseases were normal in their rejoining of double-strand breaks

  15. Familial study of ataxia telangiectasia. Heterozygotes identification on the basis of sensitivity of gamma-irradiated cultures to caffeine post-treatment

    Energy Technology Data Exchange (ETDEWEB)

    Pawlak, A.L.; Kotecki, M. [Polska Akademia Nauk, Poznan (Poland). Zaklad Genetyki Czlowieka; Ignatowicz, R. [Centrum Zdrowia Dziecka, Warsaw (Poland)

    1994-12-31

    The effects of caffeine (CF), {gamma}-irradiation + CF post-treatment on chromosomal aberrations were studied in lymphocyte cultures from a patient with ataxia telangiectasia (AT), his parents and brother. In the studied family both the homozygotes and the obligatory heterozygotes of AT showed increased sensitivity to CF post-treatment. Individual differences in sensitivity to {gamma}-irradiation + CF post-treatment proved to be correlated with the sensitivity of non-irradiated cells to CF treatment, but not to {gamma}-irradiation. (author). 19 refs, 1 fig., 1 tab.

  16. Intense pulsed light vs. long-pulsed dye laser treatment of telangiectasia after radiotherapy for breast cancer: a randomized split-lesion trial of two different treatments

    DEFF Research Database (Denmark)

    Nymann, P.; Hedelund, L.; Hædersdal, Merete

    2009-01-01

    Background Chronic radiodermatitis is a common sequela of treatment for breast cancer and potentially a psychologically distressing factor for the affected women. Objectives To evaluate the efficacy and adverse effects of treatments with a long-pulsed dye laser (LPDL) vs. intense pulsed light (IPL......); the interventions were randomly assigned to left/right or upper/lower halves. Primary end-points were reduction in telangiectasia, patient satisfaction and preferred treatment. Secondary end-points were pain and adverse effects. Efficacy was registered by blinded photographic evaluations 3 months after the final...

  17. Familial study of ataxia telangiectasia. Heterozygotes identification on the basis of sensitivity of gamma-irradiated cultures to caffeine post-treatment

    International Nuclear Information System (INIS)

    Pawlak, A.L.; Kotecki, M.

    1994-01-01

    The effects of caffeine (CF), γ-irradiation + CF post-treatment on chromosomal aberrations were studied in lymphocyte cultures from a patient with ataxia telangiectasia (AT), his parents and brother. In the studied family both the homozygotes and the obligatory heterozygotes of AT showed increased sensitivity to CF post-treatment. Individual differences in sensitivity to γ-irradiation + CF post-treatment proved to be correlated with the sensitivity of non-irradiated cells to CF treatment, but not to γ-irradiation. (author). 19 refs, 1 fig., 1 tab

  18. Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.

    Science.gov (United States)

    Invernizzi, Rosangela; Quaglia, Federica; Klersy, Catherine; Pagella, Fabio; Ornati, Federica; Chu, Francesco; Matti, Elina; Spinozzi, Giuseppe; Plumitallo, Sara; Grignani, Pierangela; Olivieri, Carla; Bastia, Raffaella; Bellistri, Francesca; Danesino, Cesare; Benazzo, Marco; Balduini, Carlo L

    2015-11-01

    Hereditary haemorrhagic telangiectasia is a genetic disease that leads to multiregional angiodysplasia. Severe recurrent epistaxis is the most common presentation, frequently leading to severe anaemia. Several therapeutic approaches have been investigated, but they are mostly palliative and have had variable results. We aimed to assess the efficacy of thalidomide for the reduction of epistaxis in patients with hereditary haemorrhagic telangiectasia that is refractory to standard therapy. We recruited patients aged 17 years or older with hereditary haemorrhagic telangiectasia who had severe recurrent epistaxis refractory to minimally invasive surgical procedures into an open-label, phase 2, non-randomised, single-centre study at IRCCS Policlinico San Matteo Foundation (Pavia, Italy). We gave patients thalidomide at a starting dose of 50 mg/day orally. If they had no response, we increased the thalidomide dose by 50 mg/day increments every 4 weeks, until a response was seen, up to a maximum dose of 200 mg/day. After patients had achieved a response, they continued treatment for 8-16 additional weeks. The primary endpoint was the efficacy of thalidomide measured as the percentage of patients who had reductions of at least one grade in the frequency, intensity, or duration of epistaxis. We followed up patients each month to assess epistaxis severity score and transfusion need, and any adverse events were reported. We included all patients who received any study drug and who participated in at least one post-baseline assessment in the primary efficacy population. The safety population consisted of all patients who received any dose of study treatment. This trial is registered with ClinicalTrials.gov, number NCT01485224. Between Dec 1, 2011, and May 12, 2014, we enrolled 31 patients. Median follow-up was 15·9 months (IQR 10·1-22·3). Three (10%, 95% CI 2-26) patients had a complete response, with bleeding stopped, 28 (90%, 95% CI 74-98) patients had partial responses

  19. Capillary density: An important parameter in nailfold capillaroscopy.

    Science.gov (United States)

    Emrani, Zahra; Karbalaie, Abdolamir; Fatemi, Alimohammad; Etehadtavakol, Mahnaz; Erlandsson, Björn-Erik

    2017-01-01

    Nailfold capillaroscopy is one of the various noninvasive bioengineering methods used to investigate skin microcirculation. It is an effective examination for assessing microvascular changes in the peripheral circulation; hence it has a significant role for the diagnosis of Systemic sclerosis with the classic changes of giant capillaries as well as the decline in capillary density with capillary dropout. The decline in capillary density is one of microangiopathic features existing in connective tissue disease. It is detectable with nailfold capillaroscopy. This parameter is assessed by applying quantitative measurement. In this article, we reviewed a common method for calculating the capillary density and the relation between the number of capillaries as well as the existence of digital ulcers, pulmonary arterial hypertension, autoantibodies, scleroderma patterns and different scoring system. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Telangiectasia hemorrágica hereditária e malformações arteriovenosas pulmonares – Embolização com rolhão vascular Amplatzer

    Directory of Open Access Journals (Sweden)

    Cláudia Sofia Santos

    2009-03-01

    Full Text Available Resumo: As malformações arteriovenosas pulmonares (MAVP estão associadas a telangiectasia hemorrágica hereditária em cerca de 70% dos casos, podendo cursar com complicações neurológicas graves decorrentes do embolismo paradoxal potencial. A terapêutica das malformações é realizada no sentido de prevenir estas complicações.Descreve-se o caso clínico de uma doente com duas MAVP, no contexto de telangiectasia hemorrágica hereditária, submetida a embolização com o rolhão vascular Amplatzer. Este novo dispositivo é cada vez mais utilizado nestas situações, salientando-se algumas das suas características e vantagens em relação a outras técnicas de embolização mais frequentemente utilizadas. Abstract: Pulmonary arteriovenous malformations (PAVMs are associated to hereditary hemorrhagic telangiectasia in about 70% of the cases. PAVMs are associated to serious neurologic complications, secondary to inherent paradoxical embolisms. Treatment of the malformations is done to prevent these complications.The authors report a clinical case of a patient with two PAVMs, with hereditary hemorrhagic telangiectasia, who was treated by embolization with an Amplatzer vascular plug, a new device increasingly used in these situations. The authors emphasise some of its characteristics and advantages when compared with other embolization techniques most commonly used. Palavras-chave: Malformação arteriovenosa pulmonar, telangiectasia hemorrágica hereditária, rolhão vascular Amplatzer, Key-words: Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, Amplatzer vascular plug

  1. Condensation and Evaporation Transitions in Deep Capillary Grooves

    OpenAIRE

    Malijevský, A. (Alexandr); Parry, A.O.

    2014-01-01

    We study the order of capillary condensation and evaporation transitions of a simple fluid adsorbed in a deep capillary groove using a fundamental measure density functional theory (DFT). The walls of the capillary interact with the fluid particles via long-ranged, dispersion, forces while the fluid-fluid interaction is modelled as a truncated Lennard-Jones-like potential. We find that below the wetting temperature $T_w$ condensation is first-order and evaporation is continuous with the metas...

  2. High Performance Wafer-Based Capillary Electrochromatography, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — The Phase II research comprises designing, constructing, and testing a chip-based capillary electrochromatography (CEC) prototype for separation and analysis of...

  3. Channeling of neutral particles in micro- and nano-capillaries

    International Nuclear Information System (INIS)

    Dabagov, S.B.

    2003-01-01

    After briefly reviewing the main directions in X-ray optics and analyzing the development of capillary optics, a general theory of radiation propagation through capillary structures is described in both geometrical optics and wave optics approximations. Analysis of radiation field structure inside a capillary waveguide shows that wave propagation in channels can be of a purely modal nature, with transmitted energy mostly concentrated in the immediate neighbourhood of capillary inner walls. A qualitative change in radiation scattering with decreasing channel diameter 0 namely, the transition from surface channeling in microcapillaries to bulk channeling in nanocapillaries - is discussed [ru

  4. Capillary-Condenser-Pumped Heat-Transfer Loop

    Science.gov (United States)

    Silverstein, Calvin C.

    1989-01-01

    Heat being transferred supplies operating power. Capillary-condenser-pumped heat-transfer loop similar to heat pipe and to capillary-evaporator-pumped heat-transfer loop in that heat-transfer fluid pumped by evaporation and condensation of fluid at heat source and sink, respectively. Capillary condenser pump combined with capillary evaporator pump to form heat exchanger circulating heat-transfer fluids in both loops. Transport of heat more nearly isothermal. Thermal stress in loop reduced, and less external surface area needed in condenser section for rejection of heat to heat sink.

  5. Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

    Science.gov (United States)

    ... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

  6. Genetics Home Reference: microcephaly-capillary malformation syndrome

    Science.gov (United States)

    ... and Stroke: Epilepsy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Educational Resources (7 links) Boston Children's Hospital: Capillary Malformation Boston Children's Hospital: Microcephaly Centers ...

  7. Cerebellar Ataxia with Complete Clinical Recovery and Resolution of MRI Lesions Related to Central Pontine Myelinolysis: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Cristina Dolciotti

    2010-12-01

    Full Text Available There are several reports of central pontine myelinolysis (CPM in a setting of malnutrition, alcoholism, and chronic debilitating illness associated with electrolyte abnormalities, especially hyponatremia. The cause of myelinolysis is still under debate, and, although osmotic effects are thought to be responsible in most cases, alternative pathological factors should be considered [King et al.: Am J Med Sci 2010;339:561–567]. We report a case of CPM in a patient with recent chemotherapy for colon cancer without electrolyte unbalance and otherwise unexplained causes. Moreover, the present case is an example of the unusual clinical ataxic variant, followed by complete recovery without any specific treatment. The diagnosis was confirmed by MRI, which showed a characteristic hyperintense signal abnormality in the central part of the pons with an unaffected outer rim. One month later, we observed complete resolution of clinical and radiological symptoms.

  8. Modelization and simulation of capillary barriers

    International Nuclear Information System (INIS)

    Lisbona Cortes, F.; Aguilar Villa, G.; Clavero Gracia, C.; Gracia Lozano, J.L.

    1998-01-01

    Among the different underground transport phenomena, that due to water flows is of great relevance. Water flows in infiltration and percolation processes are responsible of the transport of hazardous wastes towards phreatic layers. From the industrial and geological standpoints, there is a great interest in the design of natural devices to avoid the flows transporting polluting substances. This interest is increased when devices are used to isolate radioactive waste repositories, whose life is to be longer than several hundred years. The so-called natural devices are those based on the superimposition of material with different hydraulic properties. In particular, the flow retention in this kind stratified media, in unsaturated conditions, is basically due to the capillary barrier effect, resulting from placing a low conductivity material over another with a high hydraulic conductivity. Covers designed from the effect above have also to allow a drainage of the upper layer. The lower cost of these covers, with respect to other kinds of protection systems, and the stability in time of their components make them very attractive. However, a previous investigation to determine their effectivity is required. In this report we present the computer code BCSIM, useful for easy simulations of unsaturated flows in a capillary barrier configuration with drainage, and which is intended to serve as a tool for designing efficient covers. The model, the numerical algorithm and several implementation aspects are described. Results obtained in several simulations, confirming the effectivity of capillary barriers as a technique to build safety covers for hazardous waste repositories, are presented. (Author)

  9. Capillary Flow of Liquid Metals in Brazing

    Science.gov (United States)

    Dehsara, Mohammad

    Capillary flow is driven or controlled by capillary forces, exerted at the triple line where the fluid phases meet the solid boundary. Phase field (PF) models naturally accommodate diffusive triple line motion with variable contact angle, thus allowing for the no-slip boundary condition without the stress singularities. Moreover, they are uniquely suited for modeling of topological discontinuities which often arise during capillary flows. In this study, we consider diffusive triple line motion within two PF models: the compositionally compressible (CC) and the incompressible (IC) models. We derive the IC model as a systematic approximation to the CC model, based on a suitable choice of continuum velocity field. The CC model, applied to the fluids of dissimilar mass densities, exhibits a computational instability at the triple line. The IC model perfectly represents the analytic equilibria. We develop the parameter identification procedure and show that the triple line kinetics can be well represented by the IC model's diffusive boundary condition. The IC model is first tested by benchmarking the phase-field and experimental kinetics of water, and silicone oil spreading over the glass plates in which two systems do not interact with the substrate. Then, two high-temperature physical settings involving spreading of the molten Al-Si alloy: one over a rough wetting substrate, the other over a non-wetting substrate are modeled in a T-joint structure which is a typical geometric configuration for many brazing and soldering applications. Surface roughness directly influences the spreading of the molten metal by causing break-ups of the liquid film and trapping the liquid away from the joint. In the early stages of capillary flow over non-wetting surface, the melting and flow are concurrent, so that the kinetics of wetting is strongly affected by the variations in effective viscosity of the partially molten metal. We define adequate time-dependent functions for the

  10. Capillary Thinning of Particle-laden Drops

    Science.gov (United States)

    Wagoner, Brayden; Thete, Sumeet; Jahns, Matt; Doshi, Pankaj; Basaran, Osman

    2015-11-01

    Drop formation is central in many applications such as ink-jet printing, microfluidic devices, and atomization. During drop formation, a thinning filament is created between the about-to-form drop and the fluid hanging from the nozzle. Therefore, the physics of capillary thinning of filaments is key to understanding drop formation and has been thoroughly studied for pure Newtonian fluids. The thinning dynamics is, however, altered completely when the fluid contains particles, the physics of which is not well understood. In this work, we explore the impact of solid particles on filament thinning and drop formation by using a combination of experiments and numerical simulations.

  11. Paramecium swimming in a capillary tube

    Science.gov (United States)

    Jana, Saikat; Jung, Sunghwan

    2010-03-01

    Micro-organisms exhibit different strategies for swimming in complex environments. Many micro-swimmers such as paramecium congregate and tend to live near wall. We investigate how paramecium moves in a confined space as compared to its motion in an unbounded fluid. A new theoretical model based on Taylor's sheet is developed, to study such boundary effects. In experiments, paramecia are put inside capillary tubes and their swimming behavior is observed. The data obtained from experiments is used to test the validity of our theoretical model and understand how the cilia influence the locomotion of paramecia in confined geometries.

  12. Sapphire capillary interstitial irradiators for laser medicine

    Science.gov (United States)

    Shikunova, I. A.; Dolganova, I. N.; Dubyanskaya, E. N.; Mukhina, E. E.; Zaytsev, K. I.; Kurlov, V. N.

    2018-04-01

    In this paper, we demonstrate instruments for laser radiation delivery based on sapphire capillary needles. Such sapphire irradiators (introducers) can be used for various medical applications, such as photodynamic therapy, laser hyperthermia, laser interstitial thermal therapy, and ablation of tumors of various organs. Unique properties of sapphire allow for effective redistribution of the heat, generated in biological tissues during their exposure to laser radiation. This leads to homogeneous distribution of the laser irradiation around the needle, and lower possibility of formation of the overheating focuses, as well as the following non-transparent thrombi.

  13. Dynamics of capillary condensation in aerogels.

    Science.gov (United States)

    Nomura, R; Miyashita, W; Yoneyama, K; Okuda, Y

    2006-03-01

    Dynamics of capillary condensation of liquid 4He in various density silica aerogels was investigated systematically. Interfaces were clearly visible when bulk liquid was rapidly sucked into the aerogel. Time evolution of the interface positions was consistent with the Washburn model and their effective pore radii were obtained. Condensation was a single step in a dense aerogel and two steps in a low density aerogel. Crossover between the two types of condensation was observed in an intermediate density aerogel. Variety of the dynamics may be the manifestation of the fractal nature of aerogels which had a wide range of distribution of pore radii.

  14. Modulation of capillary condensation by trace component

    Directory of Open Access Journals (Sweden)

    Shiqi Zhou

    2011-06-01

    Full Text Available Impact of trace component on capillary condensation (CC is investigated systematically using a classical density functional theory. It is discovered that (i presence of the trace component makes the CC to occur at much lower condensation pressure than when its absence; (ii Lennard-Jones potential parameters like size parameter and energy parameter of the trace component, and its concentration in the bulk adsorption system, show their effects the most remarkably within a particular range beyond which the effects eventually become insignificant. The present discoveries have implications in low pressure storage of gases, separation and enrichment of low concentration component, and easy control of CC transition, etc.

  15. Gravimetric capillary method for kinematic viscosity measurements

    Science.gov (United States)

    Rosenberger, Franz; Iwan, J.; Alexander, D.; Jin, Wei-Qing

    1992-01-01

    A novel version of the capillary method for viscosity measurements of liquids is presented. Viscosity data can be deduced in a straightforward way from mass transfer data obtained by differential weighing during the gravity-induced flow of the liquid between two cylindrical chambers. Tests of this technique with water, carbon tetrachloride, and ethanol suggest that this arrangement provides an accuracy of about +/- 1 percent. The technique facilitates operation under sealed, isothermal conditions and, thus can readily be applied to reactive and/or high vapor pressure liquids.

  16. Diffusion tensor imaging for anatomical localization of cranial nerves and cranial nerve nuclei in pontine lesions: initial experiences with 3T-MRI.

    Science.gov (United States)

    Ulrich, Nils H; Ahmadli, Uzeyir; Woernle, Christoph M; Alzarhani, Yahea A; Bertalanffy, Helmut; Kollias, Spyros S

    2014-11-01

    With continuous refinement of neurosurgical techniques and higher resolution in neuroimaging, the management of pontine lesions is constantly improving. Among pontine structures with vital functions that are at risk of being damaged by surgical manipulation, cranial nerves (CN) and cranial nerve nuclei (CNN) such as CN V, VI, and VII are critical. Pre-operative localization of the intrapontine course of CN and CNN should be beneficial for surgical outcomes. Our objective was to accurately localize CN and CNN in patients with intra-axial lesions in the pons using diffusion tensor imaging (DTI) and estimate its input in surgical planning for avoiding unintended loss of their function during surgery. DTI of the pons obtained pre-operatively on a 3Tesla MR scanner was analyzed prospectively for the accurate localization of CN and CNN V, VI and VII in seven patients with intra-axial lesions in the pons. Anatomical sections in the pons were used to estimate abnormalities on color-coded fractional anisotropy maps. Imaging abnormalities were correlated with CN symptoms before and after surgery. The course of CN and the area of CNN were identified using DTI pre- and post-operatively. Clinical associations between post-operative improvements and the corresponding CN area of the pons were demonstrated. Our results suggest that pre- and post-operative DTI allows identification of key anatomical structures in the pons and enables estimation of their involvement by pathology. It may predict clinical outcome and help us to better understand the involvement of the intrinsic anatomy by pathological processes. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. The Integration of Biology Into the Treatment of Diffuse Intrinsic Pontine Glioma: A Review of the North American Clinical Trial Perspective.

    Science.gov (United States)

    Clymer, Jessica; Kieran, Mark W

    2018-01-01

    Dramatic advances in the molecular analysis of diffuse intrinsic pontine glioma have occurred over the last decade and resulted in the identification of potential therapeutic targets. In spite of these advances, no significant improvement in the outcome has been achieved and median survival remains approximately 10 months. An understanding of the approaches that have been taken to date, why they failed, and how that information can lead the field forward is critical if we are to change the status quo . In this review, we will discuss the clinical trial landscape in North America with an overview of historical approaches that failed and what might account for this failure. We will then provide a discussion of how our understanding of the genotype of this disease has led to the development of a number of trials targeting the mutations and epigenome of diffuse intrinsic pontine gliomas and the issues related to these trials. Similarly, the introduction of methodologies to address penetration across the blood-brain barrier will be considered in the context of both targeted approaches, epigenetic modification, and immune surveillance of these tumors. The comprehensive analysis of these data, generated through cooperative groups, collaborative clinical trials, and pilot studies in North America will be the focus of the IVth Memorial Alicia Pueyo international symposium in Barcelona on March 12th, 2018 and will be compared and contrasted with a similar comprehensive analysis of the European data with the goal of bringing all of these data together to develop a uniform platform on which new rational trials can be based.

  18. Capillary electrophoresis in a fused-silica capillary with surface roughness gradient

    Czech Academy of Sciences Publication Activity Database

    Horká, Marie; Šlais, Karel; Karásek, Pavel; Růžička, F.; Šalplachta, Jiří; Šesták, Jozef; Kahle, Vladislav; Roth, Michal

    2016-01-01

    Roč. 39, č. 19 (2016), s. 3827-3834 ISSN 1615-9306 R&D Projects: GA ČR(CZ) GA16-03749S; GA MZd(CZ) NV16-29916A Institutional support: RVO:68081715 Keywords : capillary electrophoresis * supercritical water * surface roughness gradient Subject RIV: CB - Analytical Chemistry , Separation Impact factor: 2.557, year: 2016

  19. Capillary electrophoresis in a fused-silica capillary with surface roughness gradient

    Czech Academy of Sciences Publication Activity Database

    Horká, Marie; Šlais, Karel; Karásek, Pavel; Růžička, F.; Šalplachta, Jiří; Šesták, Jozef; Kahle, Vladislav; Roth, Michal

    2016-01-01

    Roč. 39, č. 19 (2016), s. 3827-3834 ISSN 1615-9306 R&D Projects: GA ČR(CZ) GA16-03749S; GA MZd(CZ) NV16-29916A Institutional support: RVO:68081715 Keywords : capillary electrophoresis * supercritical water * surface roughness gradient Subject RIV: CB - Analytical Chemistry, Separation Impact factor: 2.557, year: 2016

  20. Open tubular capillary column for the separation of cytochrome C tryptic digest in capillary electrochromatography.

    Science.gov (United States)

    Ali, Faiz; Cheong, Won Jo

    2015-10-01

    A silica capillary of 50 μm internal diameter and 500 mm length (416 mm effective length) was chemically modified with 4-(trifluoromethoxy) phenyl isocyanate in the presence of dibutyl tin dichloride as catalyst. Sodium diethyl dithiocarbamate was reacted with the terminal halogen of the bound ligand to incorporate the initiator moiety, and in situ polymerization was performed using a monomer mixture of styrene, N-phenylacrylamide, and methacrylic acid. The resultant open tubular capillary column immobilized with the copolymer layer was used for the separation of tryptic digest of cytochrome C in capillary electrochromatography. The sample was well eluted and separated into many components. The elution patterns of tryptic digest of cytochrome C were studied with respect to pH and water content in the mobile phase. This preliminary study demonstrates that open tubular capillary electrochromatography columns with a modified copolymer layer composed of proper nonpolar and polar units fabricated by reversible addition-fragmentation transfer polymerization can be useful as separation media for proteomic analysis. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  1. Electro-capillary effects in capillary filling dynamics of electrorheological fluids.

    Science.gov (United States)

    Dhar, Jayabrata; Ghosh, Uddipta; Chakraborty, Suman

    2015-09-21

    The flow of electrorheological fluids is characterized by an apparent increase in viscosity manifested by the yield stress property of the fluid, which is a function of the applied electric field and the concentration of the suspended solute phase within the dielectric medium. This property of electrorheological fluids generally hinders flow through a capillary if the imposed shear stress is lower than the induced yield stress. This results in a plug-like zone in the flow profile, thus giving the fluid Bingham plastic properties. In the present work, we study such influences of the yield stress on the capillary filling dynamics of an electrorheological fluid by employing a rheologically consistent reduced order formalism. One important feature of the theoretical formalism is its ability to address the intricate interplay between the surface tension and viscous forces, both of which depend sensitively on the electric field. Our analysis reveals that the progress of the capillary front is hindered at an intermediate temporal regime, which is attributable to the increase of the span of the plug-zone across the channel width with time. With a preliminary understanding on the cessation of the capillary front advancement due to the yield stress property of the electrorheological fluids, we further strive to achieve a basic comparison with an experimental study made earlier. Reasonable agreements with the reported data support our theoretical framework. Comprehensive scaling analysis brings further insight to our reported observations over various temporal regimes.

  2. Central pontine myelinolysis

    Science.gov (United States)

    Symptoms may include any of the following: Confusion , delirium , hallucinations Balance problems, tremor Problem swallowing Reduced alertness , drowsiness or sleepiness , lethargy , poor responses Slurred speech ...

  3. Reliability of widefield capillary microscopy to measure nailfold capillary density in systemic sclerosis.

    Science.gov (United States)

    Hudson, M; Masetto, A; Steele, R; Arthurs, E; Baron, M

    2010-01-01

    To determine intra- and inter-observer reliability of widefield microscopy to measure nailfold capillary density in patients with systemic sclerosis (SSc). Five SSc patients were examined with a STEMV-8 Zeiss biomicroscope with 50x magnification. The nailfold of the second, third, fourth and fifth fingers of both hands of each patient were photographed twice by each of two observers, once in the morning and again in the afternoon (total of 32 pictures). Two raters reviewed the photographs to produce capillary density readings. Intra- and inter-rater reliability of the readings were computed using intra-class correlations (ICC). Additional analyses were undertaken to determine the impact of other sources of variability in the data, namely patient, finger, technician and time. Intra-and inter-rater reliability were substantial (ICC 0.72-0.84) when raters were reading the same photographs or photographs taken at the same time of day. Agreement was only fair between morning and afternoon density readings (ICC 0.30-0.37). Patients, individual fingers and technician accounted for a large part of the variability in the data (combined variance component of 7.69 out of the total 12.23). The coefficient of variation of widefield microscopy was 24%. Although intra- and inter-rater reliability of nailfold capillary density measurements using widefield microscopy are good, proper standardisation of the conditions under which capillaroscopy is done and better imaging of nailfold capillary abnormalities should be considered if nailfold capillary density is to be used as an outcome measure in multi-centre clinical trials in SSc.

  4. The response of normal and ataxia-telangiectasia human fibroblasts to the lethal effects of far, mid and near ultraviolet radiations

    International Nuclear Information System (INIS)

    Keyse, S.M.; McAleer, M.A.; Davies, D.J.G.; Moss, S.H.

    1985-01-01

    The responses of two ataxia-telangiectasia (A-T) cell strains to the lethal effects of monochromatic far, mid and near ultraviolet radiations have been determined and compared with the responses of three normal human cell strains. The authors results confirm a previous observation that the A-T cell strain AT4BI is abnormally sensitive to the lethal effects of mid u.v. (313 nm) radiation. After far u.v. (254 nm) radiation the strain AT4BI exhibits a small but statistically significant increase in sensitivity compared to the normal strains. Of most interest, in terms of a mechanistic interpretation of the sensitivity of A-T strains, the survival responses of neither A-T strain tested to near u.v. (365 nm) radiation differed significantly from the mean response of the normal strains, although it is of interest that one normal strain (48BR) was found to be significantly more resistant to near u.v. radiation than any of the other strains tested. The results are discussed in terms of the possible induction of radiogenic lesions in DNA by ultraviolet radiations and the possible mechanisms of radiation sensitivity in ataxia-telangiectasia. (author)

  5. Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel

    Directory of Open Access Journals (Sweden)

    Maria V. Kuznetsova

    2017-10-01

    Full Text Available Ataxia-telangiectasia (A-T, or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the ATM gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in ATM have been characterized since 1990 and new mutations continue to be discovered annually. Therefore, limiting genetic screening to previously known SNPs by PCR or hybridization with microarrays may not identify the specific pathogenic genotype in ATM for a given A-T family. However, recent developments in next-generation sequencing technology offer prompt high-throughput full-length sequencing of genomic fragments of interest. This allows the identification of the whole spectrum of mutations in a gene, including any novel ones. We report two A-T families with affected children and current pregnancies. Both families are consanguineous and originate from Caucasian regions of Russia and Azerbaijan. Before our study, no ATM mutations had been identified in the older children of these families. We used ion semiconductor sequencing and an Ion AmpliSeq™ Inherited Disease Panel to perform complete ATM gene sequencing in a single member of each family. Then we compared the experimentally determined genotype with the affected/normal phenotype distribution in the whole family to provide unambiguous evidence of pathogenic mutations responsible for A-T. A single novel SNP was allocated to each family. In the first case, we found a mononucleotide deletion, and in the second, a mononucleotide insertion. Both mutations lead to truncation of the ATM protein product. Identification of the pathogenic mutation in each family was performed in a timely fashion, allowing the fetuses to be tested and diagnosed. The parents chose to

  6. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years

    International Nuclear Information System (INIS)

    Krings, T.; Ozanne, A.; Chng, S.M.; Alvarez, H.; Lasjaunias, P.L.; Rodesch, G.

    2005-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is inherited as an autosomal dominant trait with varying penetrance and expressivity. Some of the most devastating consequences of this disease result from cerebral vascular malformations that manifest themselves in either arteriovenous fistulae (AVF), small nidus-type arteriovenous malformations (AVM) or micro-AVMs with a nidus less than 1 cm in size. The purpose of this study was to compare the phenotypes of CNS-manifestations of HHT with the age of the patient. The charts and angiographic films of 50 patients diagnosed with HHT according to the Curacao criteria were retrospectively evaluated concerning age of onset of symptoms, or, if not applicable of first consultation. The files were reviewed for clinical presentation, family and personal history, while the patients' angiograms were analysed with respect to the number of lesions (single and multiple), the location (superficial supratentorial, deep supratentorial, infratentorial, and spinal), and type of lesion (fistulous AVM, nidus-type AVM, and micro-AVM). A total of 75 central nervous system manifestations of HHT were found. Lesions included seven spinal cord AVFs that were all present in the paediatric age group (mean age: 2.2 years), 34 cerebral AV fistulae, all but two affected patients were less than 6 years (mean age 3.0). Sixteen nidus type AVMs (mean age: 23.1 years) and 18 micro-AVMs (mean age: 31.8 years) were found. HHT displays an age-related penetrance of clinical manifestations. Since members of the same family can present with completely different phenotypes of this disease there seems to be no relationship between the type of mutation and the phenotype of the disease. Since there seems to be a continuum of vascular abnormalities (from large fistulous areas to small AVMs and micro-AVMs) associated with HHT, the most likely determinating factor of the HHT phenotype is the timing of the revealing event in relation to the maturity of the vessel

  7. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial.

    Science.gov (United States)

    Whitehead, Kevin J; Sautter, Nathan B; McWilliams, Justin P; Chakinala, Murali M; Merlo, Christian A; Johnson, Maribeth H; James, Melissa; Everett, Eric M; Clancy, Marianne S; Faughnan, Marie E; Oh, S Paul; Olitsky, Scott E; Pyeritz, Reed E; Gossage, James R

    2016-09-06

    Epistaxis is a major factor negatively affecting quality of life in patients with hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease). Optimal treatment for HHT-related epistaxis is uncertain. To determine whether topical therapy with any of 3 drugs with differing mechanisms of action is effective in reducing HHT-related epistaxis. The North American Study of Epistaxis in HHT was a double-blind, placebo-controlled randomized clinical trial performed at 6 HHT centers of excellence. From August 2011 through March 2014, there were 121 adult patients who met the clinical criteria for HHT and had experienced HHT-related epistaxis with an Epistaxis Severity Score of at least 3.0. Follow-up was completed in September 2014. Patients received twice-daily nose sprays for 12 weeks with either bevacizumab 1% (4 mg/d), estriol 0.1% (0.4 mg/d), tranexamic acid 10% (40 mg/d), or placebo (0.9% saline). The primary outcome was median weekly epistaxis frequency during weeks 5 through 12. Secondary outcomes included median duration of epistaxis during weeks 5 through 12, Epistaxis Severity Score, level of hemoglobin, level of ferritin, need for transfusion, emergency department visits, and treatment failure. Among the 121 patients who were randomized (mean age, 52.8 years [SD, 12.9 years]; 44% women with a median of 7.0 weekly episodes of epistaxis [interquartile range {IQR}, 3.0-14.0]), 106 patients completed the study duration for the primary outcome measure (43 were women [41%]). Drug therapy did not significantly reduce epistaxis frequency (P = .97). After 12 weeks of treatment, the median weekly number of bleeding episodes was 7.0 (IQR, 4.5-10.5) for patients in the bevacizumab group, 8.0 (IQR, 4.0-12.0) for the estriol group, 7.5 (IQR, 3.0-11.0) for the tranexamic acid group, and 8.0 (IQR, 3.0-14.0) for the placebo group. No drug treatment was significantly different from placebo for epistaxis duration. All groups had a significant

  8. Integrated refractive index optical ring resonator detector for capillary electrophoresis.

    Science.gov (United States)

    Zhu, Hongying; White, Ian M; Suter, Jonathan D; Zourob, Mohammed; Fan, Xudong

    2007-02-01

    We developed a novel miniaturized and multiplexed, on-capillary, refractive index (RI) detector using liquid core optical ring resonators (LCORRs) for future development of capillary electrophoresis (CE) devices. The LCORR employs a glass capillary with a diameter of approximately 100 mum and a wall thickness of a few micrometers. The circular cross section of the capillary forms a ring resonator along which the light circulates in the form of the whispering gallery modes (WGMs). The WGM has an evanescent field extending into the capillary core and responds to the RI change due to the analyte conducted in the capillary, thus permitting label-free measurement. The resonating nature of the WGM enables repetitive light-analyte interaction, significantly enhancing the LCORR sensitivity. This LCORR architecture achieves dual use of the capillary as a sensor head and a CE fluidic channel, allowing for integrated, multiplexed, and noninvasive on-capillary detection at any location along the capillary. In this work, we used electro-osmotic flow and glycerol as a model system to demonstrate the fluid transport capability of the LCORRs. In addition, we performed flow speed measurement on the LCORR to demonstrate its flow analysis capability. Finally, using the LCORR's label-free sensing mechanism, we accurately deduced the analyte concentration in real time at a given point on the capillary. A sensitivity of 20 nm/RIU (refractive index units) was observed, leading to an RI detection limit of 10-6 RIU. The LCORR marries photonic technology with microfluidics and enables rapid on-capillary sample analysis and flow profile monitoring. The investigation in this regard will open a door to novel high-throughput CE devices and lab-on-a-chip sensors in the future.

  9. Capillary discharge sources of hard UV radiation

    International Nuclear Information System (INIS)

    Cachoncinlle, C; Dussart, R; Robert, E; Goetze, S; Pons, J; Mohanty, S R; Viladrosa, R; Fleurier, C; Pouvesle, J M

    2002-01-01

    We developed and studied three different extreme ultraviolet (EUV) capillary discharge sources either dedicated to the generation of coherent or incoherent EUV radiation. The CAPELLA source has been developed especially as an EUV source for the metrology at 13.4 nm. With one of these sources, we were able to produce gain on the Balmer-Hα (18.22 nm) and Hβ (13.46 nm) spectral lines in carbon plasma. By injecting 70 GW cm -3 we measured gain-length products up to 1.62 and 3.02 for the Hα and Hβ, respectively optimization of the EUV capillary source CAPELLA led to the development of an EUV lamp which emits 2 mJ in the bandwidth of the MoSi mirror, per joule stored, per shot and in full solid angle. The wall-plug efficiency is 0.2%. Stability of this lamp is better than 4% and the lamp can operate at repetition rate of 50 Hz

  10. Vesicle dynamics in shear and capillary flows

    International Nuclear Information System (INIS)

    Noguchi, Hiroshi; Gompper, Gerhard

    2005-01-01

    The deformation of vesicles in flow is studied by a mesoscopic simulation technique, which combines multi-particle collision dynamics for the solvent with a dynamically triangulated surface model for the membrane. Shape transitions are investigated both in simple shear flows and in cylindrical capillary flows. We focus on reduced volumes, where the discocyte shape of fluid vesicles is stable, and the prolate shape is metastable. In simple shear flow at low membrane viscosity, the shear induces a transformation from discocyte to prolate with increasing shear rate, while at high membrane viscosity, the shear induces a transformation from prolate to discocyte, or tumbling motion accompanied by oscillations between these two morphologies. In capillary flow, at small flow velocities the symmetry axis of the discocyte is found not to be oriented perpendicular to the cylinder axis. With increasing flow velocity, a transition to a prolate shape occurs for fluid vesicles, while vesicles with shear-elastic membranes (like red blood cells) transform into a coaxial parachute-like shape

  11. Quantitative analysis by microchip capillary electrophoresis – current limitations and problem-solving strategies

    NARCIS (Netherlands)

    Revermann, T.; Götz, S.; Künnemeyer, Jens; Karst, U.

    2008-01-01

    Obstacles and possible solutions for the application of microchip capillary electrophoresis in quantitative analysis are described and critically discussed. Differences between the phenomena occurring during conventional capillary electrophoresis and microchip-based capillary electrophoresis are

  12. Heterogeneity of capillary spacing in the hypertrophied plantaris muscle from young-adult and old rats.

    NARCIS (Netherlands)

    Degens, H.; Morse, C.I.; Hopman, M.T.E.

    2009-01-01

    Heterogeneity of capillary spacing may affect tissue oxygenation. The determinants of heterogeneity of capillary spacing are, however, unknown. To investigate whether 1) impaired angiogenesis and increased heterogeneity of capillary spacing delays development of hypertrophy during aging and 2)

  13. Isotherms of Capillary Condensation Influenced by Formation of Adsorption Films.

    Science.gov (United States)

    Churaev; Starke; Adolphs

    2000-01-15

    Isotherms of capillary condensation are often used to determine the vapor sorption capacity of porous adsorbents as well as the pore size distribution by radii. In this paper, for calculating the volume of capillary condensate and of adsorption films in a porous body, an approach based on the theory of surface forces is used. Adsorption isotherms and disjoining pressure isotherms of wetting films are presented here in an exponential form discussed earlier. The calculations were made for straight cylindrical capillaries of different radii and slit pores of different width. The mechanisms of capillary condensation differ in cylindrical and slit pores. In cylindrical pores capillary condensation occurs due to capillary instability of curved wetting films on a capillary surface, when film thickness grows. In the case of slit pores, coalescence of wetting films formed on opposite slit surfaces proceeds under the action of attractive dispersion forces. Partial volumes of liquid in the state of both capillary condensate and adsorbed films are calculated dependent on the relative vapor pressure in a surrounding media. Copyright 2000 Academic Press.

  14. The profile of a capillary liquid bridge between solid surfaces

    NARCIS (Netherlands)

    van Honschoten, J.W.; Tas, Niels Roelof; Elwenspoek, Michael Curt

    2010-01-01

    Scanning force microscopy, such as atomic force microscopy (AFM) is complicated by the capillary force of a water meniscus formed in air between the probe tip and the sample. This small liquid bridge between the hydrophilic sample and the sharp AFM tip can be formed by capillary condensation from

  15. Capillary condensation in porous alumina observed by positronium lifetime spectroscopy

    International Nuclear Information System (INIS)

    Ivanov, Eugeniu; Vata, Ion; Toderian, Stefan; Dudu, Dorin; Rusen, Ion; Stefan, Nitisor

    2008-01-01

    The PALS method based on time distribution measurements has been used to study capillary condensation of different gases adsorbed in microporous alumina powder. The isotherms exhibit features which are associated with a shifted gas-liquid transition. The sorption and desorption processes are irreversible presenting a hysteresis effect. Suggestions on some new aspects of the capillary condensation dynamics are made

  16. Capillary filling of miniaturized sources for electrospray mass spectrometry

    International Nuclear Information System (INIS)

    Arscott, Steve; Gaudet, Matthieu; Brinkmann, Martin; Ashcroft, Alison E; Blossey, Ralf

    2006-01-01

    Capillary slot-based emitter tips are a novel tool for use in electrospray ionization-mass spectrometry of large biomolecules. We have performed a combined theoretical and experimental study of capillary filling in micron-sized slots with the aim of developing a rational design procedure for miniaturized electrospray sources, ultimately enabling the integration of ESI into laboratory-on-a-chip devices

  17. Potential of capillary electrophoresis for the profiling of propolis

    NARCIS (Netherlands)

    Hilhorst, M.J; Somsen, G.W; de Jong, G.J.

    1998-01-01

    The usefulness of capillary electrophoresis (CE) with diode array detection for the profiling of Propolis, a hive product, is investigated. Water extracts of Propolis were analyzed with both capillary zone electrophoresis (CZE) at pH 7.0 and 9.3, and micellar electrokinetic chromatography (MEKC)

  18. 21 CFR 864.6150 - Capillary blood collection tube.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Capillary blood collection tube. 864.6150 Section 864.6150 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Manual Hematology Devices § 864.6150 Capillary...

  19. First report of microcephaly-capillary malformations syndrome in ...

    African Journals Online (AJOL)

    Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

  20. Thermodynamics of Capillary Rise: Why Is the Meniscus Curved?

    Science.gov (United States)

    Henriksson, Ulf; Eriksson, Jan Christer

    2004-01-01

    The thermodynamics of capillary rise is explained as the gravitational elevation of the whole column of liquid caused by the positive connection between the liquid, and the solid wall of the capillary tube. The curvature of the meniscus is ascribed to the maintenance of a physiochemical balance throughout the gravitational column of liquid.

  1. Geometry Effects of Capillary on the Evaporation from the Meniscus

    International Nuclear Information System (INIS)

    Choi, Choong Hyo; Jin, Song Wan; Yoo, Jung Yul

    2007-01-01

    The effect of capillary cross-section geometry on evaporation is investigated in terms of the meniscus shape, evaporation rate and evaporation-induced flow for circular, square and rectangular cross-sectional capillaries. The shapes of water and ethanol menisci are not much different from each other in square and rectangular capillaries even though the surface tension of water is much larger than that of ethanol. On the other hand, the shapes of water and ethanol menisci are very different from each other in circular capillary. The averaged evaporation fluxes in circular and rectangular capillaries are measured by tracking the meniscus position. At a given position, the averaged evaporation flux in rectangular capillaries in much larger than that in circular capillary with comparable hydraulic diameter. The flow near the evaporating meniscus is also measured using micro-PIV, so that the rotating vortex motion is observed near the evaporating ethanol and methanol menisci except for the case of methanol meniscus in rectangular capillary. This difference is considered to be due to the existence of corner menisci at the four corners

  2. Paper Capillary Enables Effective Sampling for Microfluidic Paper Analytical Devices.

    Science.gov (United States)

    Shangguan, Jin-Wen; Liu, Yu; Wang, Sha; Hou, Yun-Xuan; Xu, Bi-Yi; Xu, Jing-Juan; Chen, Hong-Yuan

    2018-06-06

    Paper capillary is introduced to enable effective sampling on microfluidic paper analytical devices. By coupling mac-roscale capillary force of paper capillary and microscale capillary forces of native paper, fluid transport can be flexibly tailored with proper design. Subsequently, a hybrid-fluid-mode paper capillary device was proposed, which enables fast and reliable sampling in an arrayed form, with less surface adsorption and bias for different components. The resulting device thus well supports high throughput, quantitative, and repeatable assays all by hands operation. With all these merits, multiplex analysis of ions, proteins, and microbe have all been realized on this platform, which has paved the way to level-up analysis on μPADs.

  3. Capillary array electrophoresis using laser-excited confocal fluorescence detection

    Energy Technology Data Exchange (ETDEWEB)

    Huang, X.C.; Quesada, M.A.; Mathies, R.A. [Univ. of California, Berkeley, CA (United States)

    1992-04-15

    Capillary electrophoresis (CE) has found widespread application in analytical and biomedical research, and the scope and sophistication of CE is still rapidly advancing. Gel-filled capillaries have been employed for the rapid separation and analysis of synthetic polynucleotides, DNA sequencing fragments, and DNA restriction fragments. Open-tube capillary electrophoresis has attained subattomole detection levels in amino acid separations 14 and proven its utility for the separation of proteins, viruses, and bacteria. Separation of the optical isomers of dansyl amino acids has also been successfully demonstrated. Micellar electrokinetic capillary chromatography, isoelectric focusing, and on-column derivatization can all be performed on CE columns, demonstrating the utility of capillary electrophoresis as an analytical and micropreparative tool. 29 refs., 6 figs., 1 tab.

  4. A macrothermodynamic approach to the limit of reversible capillary condensation.

    Science.gov (United States)

    Trens, Philippe; Tanchoux, Nathalie; Galarneau, Anne; Brunel, Daniel; Fubini, Bice; Garrone, Edoardo; Fajula, François; Di Renzo, Francesco

    2005-08-30

    The threshold of reversible capillary condensation is a well-defined thermodynamic property, as evidenced by corresponding states treatment of literature and experimental data on the lowest closure point of the hysteresis loop in capillary condensation-evaporation cycles for several adsorbates. The nonhysteretical filling of small mesopores presents the properties of a first-order phase transition, confirming that the limit of condensation reversibility does not coincide with the pore critical point. The enthalpy of reversible capillary condensation can be calculated by a Clausius-Clapeyron approach and is consistently larger than the condensation heat in unconfined conditions. Calorimetric data on the capillary condensation of tert-butyl alcohol in MCM-41 silica confirm a 20% increase of condensation heat in small mesopores. This enthalpic advantage makes easier the overcoming of the adhesion forces by the capillary forces and justifies the disappearing of the hysteresis loop.

  5. Generalized polymer effective charge measurement by capillary isotachophoresis.

    Science.gov (United States)

    Chamieh, Joseph; Koval, Dušan; Besson, Adeline; Kašička, Václav; Cottet, Hervé

    2014-11-28

    In this work, we have generalized the use of capillary isotachophoresis as a universal method for determination of effective charge of anionic and cationic (co)polymers on ordinary capillary electrophoresis instruments. This method is applicable to a broad range of strong or weak polyelectrolytes with good repeatability. Experimental parameters (components and concentrations of leading and terminating electrolytes, capillary diameters, constant electric current intensity) were optimized for implementation in 100 μm i.d. capillaries for both polyanions and polycations. Determined values of polymer effective charge were in a very good agreement with those obtained by capillary electrophoresis with indirect UV detection. Uncertainty of the effective charge measurement using isotachophoresis was addressed and estimated to be ∼5-10% for solutes with mobilities in the 20-50 × 10(-9)m(2)V(-1)s(-1) range. Copyright © 2014 Elsevier B.V. All rights reserved.

  6. Wall modified photonic crystal fibre capillaries as porous layer open tubular columns for in-capillary micro-extraction and capillary chromatography

    International Nuclear Information System (INIS)

    Kazarian, Artaches A.; Sanz Rodriguez, Estrella; Deverell, Jeremy A.; McCord, James; Muddiman, David C.; Paull, Brett

    2016-01-01

    Wall modified photonic crystal fibre capillary columns for in-capillary micro-extraction and liquid chromatographic separations is presented. Columns contained 126 internal parallel 4 μm channels, each containing a wall bonded porous monolithic type polystyrene-divinylbenzene layer in open tubular column format (PLOT). Modification longitudinal homogeneity was monitored using scanning contactless conductivity detection and scanning electron microscopy. The multichannel open tubular capillary column showed channel diameter and polymer layer consistency of 4.2 ± 0.1 μm and 0.26 ± 0.02 μm respectively, and modification of 100% of the parallel channels with the monolithic polymer. The modified multi-channel capillaries were applied to the in-capillary micro-extraction of water samples. 500 μL of water samples containing single μg L"−"1 levels of polyaromatic hydrocarbons were extracted at a flow rate of 10 μL min"−"1, and eluted in 50 μL of acetonitrile for analysis using HPLC with fluorescence detection. HPLC LODs were 0.08, 0.02 and 0.05 μg L"−"1 for acenaphthene, anthracene and pyrene, respectively, with extraction recoveries of between 77 and 103%. The modified capillaries were also investigated briefly for direct application to liquid chromatographic separations, with the retention and elution of a standard protein (cytochrome c) under isocratic conditions demonstrated, proving chromatographic potential of the new column format, with run-to-run retention time reproducibility of below 1%. - Highlights: • Novel PS-DVB modified photonic crystal fibres for in-capillary micro-extraction. • New method for micro-extraction of PAHs and HPLC-FL detection at sub-ppb levels. • Demonstration of PS-DVB modified photonic crystal fibres for capillary bioseparations.

  7. Wall modified photonic crystal fibre capillaries as porous layer open tubular columns for in-capillary micro-extraction and capillary chromatography

    Energy Technology Data Exchange (ETDEWEB)

    Kazarian, Artaches A. [Australian Centre for Research on Separation Science, School of Physical Sciences, University of Tasmania, Private Bag 75, Hobart, Tasmania 7001 (Australia); W.M. Keck FT-ICR-MS Laboratory, Department of Chemistry, North Carolina State University, Raleigh, NC (United States); Sanz Rodriguez, Estrella; Deverell, Jeremy A. [Australian Centre for Research on Separation Science, School of Physical Sciences, University of Tasmania, Private Bag 75, Hobart, Tasmania 7001 (Australia); McCord, James; Muddiman, David C. [W.M. Keck FT-ICR-MS Laboratory, Department of Chemistry, North Carolina State University, Raleigh, NC (United States); Paull, Brett, E-mail: Brett.Paull@utas.edu.au [Australian Centre for Research on Separation Science, School of Physical Sciences, University of Tasmania, Private Bag 75, Hobart, Tasmania 7001 (Australia); ARC Centre of Excellence for Electromaterials Science, School of Physical Sciences, University of Tasmania, Private Bag 75, Hobart, Tasmania 7001 (Australia)

    2016-01-28

    Wall modified photonic crystal fibre capillary columns for in-capillary micro-extraction and liquid chromatographic separations is presented. Columns contained 126 internal parallel 4 μm channels, each containing a wall bonded porous monolithic type polystyrene-divinylbenzene layer in open tubular column format (PLOT). Modification longitudinal homogeneity was monitored using scanning contactless conductivity detection and scanning electron microscopy. The multichannel open tubular capillary column showed channel diameter and polymer layer consistency of 4.2 ± 0.1 μm and 0.26 ± 0.02 μm respectively, and modification of 100% of the parallel channels with the monolithic polymer. The modified multi-channel capillaries were applied to the in-capillary micro-extraction of water samples. 500 μL of water samples containing single μg L{sup −1} levels of polyaromatic hydrocarbons were extracted at a flow rate of 10 μL min{sup −1}, and eluted in 50 μL of acetonitrile for analysis using HPLC with fluorescence detection. HPLC LODs were 0.08, 0.02 and 0.05 μg L{sup −1} for acenaphthene, anthracene and pyrene, respectively, with extraction recoveries of between 77 and 103%. The modified capillaries were also investigated briefly for direct application to liquid chromatographic separations, with the retention and elution of a standard protein (cytochrome c) under isocratic conditions demonstrated, proving chromatographic potential of the new column format, with run-to-run retention time reproducibility of below 1%. - Highlights: • Novel PS-DVB modified photonic crystal fibres for in-capillary micro-extraction. • New method for micro-extraction of PAHs and HPLC-FL detection at sub-ppb levels. • Demonstration of PS-DVB modified photonic crystal fibres for capillary bioseparations.

  8. Rapid capillary coating by epoxy-poly-(dimethylacrylamide): Performance in capillary zone electrophoresis of protein and polystyrene carboxylate

    Czech Academy of Sciences Publication Activity Database

    Chiari, M.; Cretich, M.; Šťastná, Miroslava; Radko, S. P.; Chrambach, A.

    2001-01-01

    Roč. 22, č. 4 (2001), s. 656-659 ISSN 0173-0835 Institutional research plan: CEZ:AV0Z4031919 Keywords : capillary coating * capillary zone electrophoresis * proteins Subject RIV: CB - Analytical Chemistry, Separation Impact factor: 4.282, year: 2001

  9. Hereditary Hemorrhagic Telangiectasia - HHT

    Science.gov (United States)

    ... GUIDELINES, CLINICAL TOPIC ACKNOWLEDGEMENTS MACRA MATTERS HEALTH POLICY, ECONOMICS, CODING REIMBURSEMENT AND APPEALS ... NOW BENEFITS MEMBERSHIP CATEGORIES SIR FELLOWSHIP VOLUNTEER CENTRAL COMMITTEES ...

  10. Growth of metal-organic framework HKUST-1 in capillary using liquid-phase epitaxy for open-tubular capillary electrochromatography and capillary liquid chromatography.

    Science.gov (United States)

    Bao, Tao; Zhang, Juan; Zhang, Wenpeng; Chen, Zilin

    2015-02-13

    Much attention is being paid to applying metal-organic frameworks (MOFs) as stationary phases in chromatography because of their fascinating properties, such as large surface-to-volume ratios, high levels of porosity, and selective adsorption. HKUST-1 is one of the best-studied face-centered-cubic MOF containing nano-sized channels and side pockets for film growth. However, growth of HKUST-1 framework inside capillary column as stationary phase for capillary electrochromatography is a challenge work. In this work, we carry out the growth of HKUST-1 on the inner wall of capillary by using liquid-phase epitaxy process at room temperature. The fabricated HKUST-1@capillary can be successfully used for the separation of substituted benzene including methylbenzene, ethylbenzene, styrene, chlorobenzene, bromobenzene, o-dichlorobenzene, benzene series, phenolic acids, and benzoic acids derivates. High column efficiency of 1.5×10(5) N/m for methylbenzene was achieved. The formation of HKUST-1 grown in the capillary was confirmed and characterized by scanning electron microscopy images, Fourier transform infrared spectra and X-ray diffraction. The column showed long lifetime and excellent stability. The relative standard deviations for intra-day and inter-day repeatability of the HKUST-1@capillary were lower than 7%. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Separation of oligopeptides, nucleobases, nucleosides and nucleotides using capillary electrophoresis/electrochromatography with sol-gel modified inner capillary wall.

    Science.gov (United States)

    Svobodová, Jana; Kofroňová, Olga; Benada, Oldřich; Král, Vladimír; Mikšík, Ivan

    2017-09-29

    The aim of this article is to study the modification of an inner capillary wall with sol-gel coating (pure silica sol-gel or silica sol-gel containing porphyrin-brucine conjugate) and determine its influence on the separation process using capillary electrophoresis/electrochromatography method. After modification of the inner capillary surface the separation of analytes was performed using two different phosphate buffers (pH 2.5 and 9.0) and finally the changes in electrophoretic mobilities of various samples were calculated. To confirm that the modification of the inner capillary surface was successful, the parts of the inner surfaces of capillaries were observed using scanning electron microscopy. The analytes used as testing samples were oligopeptides, nucleosides, nucleobases and finally nucleotides. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Radionuclide diagnosis of pulmonary capillary protein leakage

    International Nuclear Information System (INIS)

    Creutzig, H.; Sturm, J.A.; Schober, O.; Nerlich, M.L.; Kant, C.J.; Medizinische Hochschule Hannover

    1984-01-01

    Pulmonary extravascular albumin extra-vasation in patients with adult respiratory distress syndrome can be quantified with radionuclide techniques. While imaging procedures with a computerized gamma camera will allow reproducible ROIs, this will be the main limitation in nonimaging measurements with small scintillation probes. Repeated positioning by one operator results in a mean spatial variation of position of about 2 cm and a variation in count rate of 25%. For the estimation of PCPL the small probes must be positioned under scintigraphic control. Under these conditions the results of both techniques are identical. The upper limit of normal was estimated to be 1 x E-5/sec. The standard deviation abnormal measurements was about 10%. The pulmonary capillary protein leakage can be quantified by radionuclide techniques with good accuracy, using the combination of imaging and nonimaging techniques. (orig.) [de

  13. Imbibition Triggered by Capillary Condensation in Nanopores.

    Science.gov (United States)

    Vincent, Olivier; Marguet, Bastien; Stroock, Abraham D

    2017-02-21

    We study the spatiotemporal dynamics of water uptake by capillary condensation from unsaturated vapor in mesoporous silicon layers (pore radius r p ≃ 2 nm), taking advantage of the local changes in optical reflectance as a function of water saturation. Our experiments elucidate two qualitatively different regimes as a function of the imposed external vapor pressure: at low vapor pressures, equilibration occurs via a diffusion-like process; at high vapor pressures, an imbibition-like wetting front results in fast equilibration toward a fully saturated sample. We show that the imbibition dynamics can be described by a modified Lucas-Washburn equation that takes into account the liquid stresses implied by Kelvin equation.

  14. Capillary condensation and adsorption of binary mixtures.

    Science.gov (United States)

    Weinberger, B; Darkrim-Lamari, F; Levesque, D

    2006-06-21

    The adsorption of equimolar binary mixtures of hydrogen-carbon dioxide, hydrogen-methane, and methane-carbon dioxide in porous material models is determined by grand canonical Monte Carlo simulations. The material models have an adsorbent surface similar to that of nanofibers with a herringbone structure. Our main result, which is relevant for hydrogen purification and carbon dioxide capture, is that the adsorption selectivities calculated for the mixtures can differ significantly from those deduced from simulations of the adsorption of pure gases, in particular, when one of the adsorbed gases presents a capillary condensation induced by confinement within the pore network. A comparison of our data is also made with theoretical models used in the literature for predicting the properties of the mixture adsorption.

  15. Capillary Condensation with a Grain of Salt.

    Science.gov (United States)

    Yarom, Michal; Marmur, Abraham

    2017-11-21

    Capillary condensation (CC), namely, the formation from the vapor of a stable phase of drops below the saturation pressure, is a prevalent phenomenon. It may occur inside porous structures or between surfaces of particles. CC between surfaces, a liquid "bridge", is of particular practical interest because of its resulting adhesive force. To date, studies have focused on pure water condensation. However, nonvolatile materials, such as salts and surfactants, are prevalent in many environments. In the current study, the effect of these contaminants on CC is investigated from a thermodynamic point of view. This is done by computing the Gibbs energy of such systems and developing the modified Kelvin equation, based on the Kohler theory. The results demonstrate that nonvolatile solutes may have a number of major effects, including an increase in the critical radius and the stabilization of the newly formed phase.

  16. Capillary Pumped Heat Transfer (CHT) Experiment

    Science.gov (United States)

    Hallinan, Kevin P.; Allen, J. S.

    1998-01-01

    The operation of Capillary Pumped Loops (CPL's) in low gravity has generally been unable to match ground-based performance. The reason for this poorer performance has been elusive. In order to investigate the behavior of a CPL in low-gravity, an idealized, glass CPL experiment was constructed. This experiment, known as the Capillary-driven Heat Transfer (CHT) experiment, was flown on board the Space Shuttle Columbia in July 1997 during the Microgravity Science Laboratory mission. During the conduct of the CHT experiment an unexpected failure mode was observed. This failure mode was a result of liquid collecting and then eventually bridging the vapor return line. With the vapor return line blocked, the condensate was unable to return to the evaporator and dry-out subsequently followed. The mechanism for this collection and bridging has been associated with long wavelength instabilities of the liquid film forming in the vapor return line. Analysis has shown that vapor line blockage in present generation CPL devices is inevitable. Additionally, previous low-gravity CPL tests have reported the presence of relatively low frequency pressure oscillations during erratic system performance. Analysis reveals that these pressure oscillations are in part a result of long wavelength instabilities present in the evaporator pores, which likewise lead to liquid bridging and vapor entrapment in the porous media. Subsequent evaporation to the trapped vapor increases the vapor pressure. Eventually the vapor pressure causes ejection of the bridged liquid. Recoil stresses depress the meniscus, the vapor pressure rapidly increases, and the heated surface cools. The process then repeats with regularity.

  17. Capillary sieving electrophoresis and micellar electrokinetic capillary chromatography produce highly correlated separation of tryptic digests

    Science.gov (United States)

    Dickerson, Jane A.; Dovichi, Norman J.

    2011-01-01

    We perform two-dimensional capillary electrophoresis on fluorescently labeled proteins and peptides. Capillary sieving electrophoresis was performed in the first dimension and micellar electrokinetic capillary chromatography was performed in the second. A cellular homogenate was labeled with the fluorogenic reagent FQ and separated using the system. This homogenate generated a pair of ridges; the first had essentially constant migration time in the CSE dimension, while the second had essentially constant migration time in the MEKC dimension. In addition a few spots were scattered through the electropherogram. The same homogenate was digested using trypsin, and then labeled and subjected to the two dimensional separation. In this case, the two ridges observed from the original two-dimensional separation disappeared, and were replaced by a set of spots that fell along the diagonal. Those spots were identified using a local-maximum algorithm and each was fit using a two-dimensional Gaussian surface by an unsupervised nonlinear least squares regression algorithm. The migration times of the tryptic digest components were highly correlated (r = 0.862). When the slowest migrating components were eliminated from the analysis, the correlation coefficient improved to r = 0.956. PMID:20564272

  18. Capillary electrophoresis: principles and applications in illicit drug analysis.

    Science.gov (United States)

    Tagliaro, F; Turrina, S; Smith, F P

    1996-02-09

    Capillary electrophoresis, which appeared in the early 1980s, is now rapidly expanding into many scientific disciplines, including analytical chemistry, biotechnology and biomedical and pharmaceutical sciences. In capillary electrophoresis,electrokinetic separations are carried out in tiny capillaries at high voltages (10-30 kV), thus obtaining high efficiencies (N > 10(5)) and excellent mass sensitivities (down to 10(-18)-10(-20) moles). The main features of capillary electrophoresis are: versatility of application (from inorganic ions to large DNA fragments), use of different separation modes with different selectivity, extremely low demands on sample volume, negligible running costs, possibility of interfacing with different detection systems, ruggedness and simplicity of instrumentation. Capillary electrophoresis applications in forensic sciences have appeared only recently, but are now rapidly growing, particularly in forensic toxicology. The present paper briefly describes the basic principles of capillary electrophoresis, from both the instrumental and analytical points of view. Furthermore, the main applications in the analysis of illicit/controlled drugs in both illicit preparations and biological samples are presented and discussed (43 references). It is concluded that the particular separation mechanism and the high complementarity of this technique to chromatography makes capillary electrophoresis a new powerful tool of investigation in the hands of forensic toxicologists.

  19. Colloid mobilization and transport during capillary fringe fluctuations.

    Science.gov (United States)

    Aramrak, Surachet; Flury, Markus; Harsh, James B; Zollars, Richard L

    2014-07-01

    Capillary fringe fluctuations due to changing water tables lead to displacement of air-water interfaces in soils and sediments. These moving air-water interfaces can mobilize colloids. We visualized colloids interacting with moving air-water interfaces during capillary fringe fluctuations by confocal microscopy. We simulated capillary fringe fluctuations in a glass-bead-filled column. We studied four specific conditions: (1) colloids suspended in the aqueous phase, (2) colloids attached to the glass beads in an initially wet porous medium, (3) colloids attached to the glass beads in an initially dry porous medium, and (4) colloids suspended in the aqueous phase with the presence of a static air bubble. Confocal images confirmed that the capillary fringe fluctuations affect colloid transport behavior. Hydrophilic negatively charged colloids initially suspended in the aqueous phase were deposited at the solid-water interface after a drainage passage, but then were removed by subsequent capillary fringe fluctuations. The colloids that were initially attached to the wet or dry glass bead surface were detached by moving air-water interfaces in the capillary fringe. Hydrophilic negatively charged colloids did not attach to static air-bubbles, but hydrophobic negatively charged and hydrophilic positively charged colloids did. Our results demonstrate that capillary fringe fluctuations are an effective means for colloid mobilization.

  20. Geometry-induced phase transition in fluids: capillary prewetting.

    Science.gov (United States)

    Yatsyshin, Petr; Savva, Nikos; Kalliadasis, Serafim

    2013-02-01

    We report a new first-order phase transition preceding capillary condensation and corresponding to the discontinuous formation of a curved liquid meniscus. Using a mean-field microscopic approach based on the density functional theory we compute the complete phase diagram of a prototypical two-dimensional system exhibiting capillary condensation, namely that of a fluid with long-ranged dispersion intermolecular forces which is spatially confined by a substrate forming a semi-infinite rectangular pore exerting long-ranged dispersion forces on the fluid. In the T-μ plane the phase line of the new transition is tangential to the capillary condensation line at the capillary wetting temperature T(cw). The surface phase behavior of the system maps to planar wetting with the phase line of the new transition, termed capillary prewetting, mapping to the planar prewetting line. If capillary condensation is approached isothermally with T>T(cw), the meniscus forms at the capping wall and unbinds continuously, making capillary condensation a second-order phenomenon. We compute the corresponding critical exponent for the divergence of adsorption.