WorldWideScience

Sample records for loss causing severe

  1. Cochlear implantation for severe sensorineural hearing loss caused by lightning.

    Science.gov (United States)

    Myung, Nam-Suk; Lee, Il-Woo; Goh, Eui-Kyung; Kong, Soo-Keun

    2012-01-01

    Lightning strike can produce an array of clinical symptoms and injuries. It may damage multiple organs and cause auditory injuries ranging from transient hearing loss and vertigo to complete disruption of the auditory system. Tympanic-membrane rupture is relatively common in patients with lightning injury. The exact pathogenetic mechanisms of auditory lesions in lightning survivors have not been fully elucidated. We report the case of a 45-year-old woman with bilateral profound sensorineural hearing loss caused by a lightning strike, who was successfully rehabilitated after a cochlear implantation. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Anti-E Alloimmunization: A Rare Cause of Severe Fetal Hemolytic Disease Resulting in Pregnancy Loss

    Directory of Open Access Journals (Sweden)

    An-Shine Chao

    2009-01-01

    Full Text Available We report a case of severe intrauterine hemolysis caused by sole anti-E alloimmunization. A 36-year-old multipara woman presented with hydrops fetalis at 27 weeks of gestation. She had a history of previous neonatal death. In this pregnancy, she was found to have very high titer of anti-E antibody. Ultrasonography detected marked skin edema, cardiomegaly, hepatosplenomegaly, pleural effusion, ascites, placentomegaly, and polyhydramnios. The Doppler peak systolic velocity in the middle cerebral artery was 0.8 m/s, indicating severe fetal anemia. Multiple intrauterine transfusions for the anemic fetus were administered. However, persistent severe fetal anemia and placentomegaly caused poor neonatal death and mirror syndrome in the mother. Uncommon red blood cell alloimmunization has to be watched for early in any population, especially in a woman with a history of unexplained perinatal loss.

  3. Desynchronizations in bee-plant interactions cause severe fitness losses in solitary bees.

    Science.gov (United States)

    Schenk, Mariela; Krauss, Jochen; Holzschuh, Andrea

    2018-01-01

    Global warming can disrupt mutualistic interactions between solitary bees and plants when increasing temperature differentially changes the timing of interacting partners. One possible scenario is for insect phenology to advance more rapidly than plant phenology. However, empirical evidence for fitness consequences due to temporal mismatches is lacking for pollinators and it remains unknown if bees have developed strategies to mitigate fitness losses following temporal mismatches. We tested the effect of temporal mismatches on the fitness of three spring-emerging solitary bee species, including one pollen specialist. Using flight cages, we simulated (i) a perfect synchronization (from a bee perspective): bees and flowers occur simultaneously, (ii) a mismatch of 3 days and (iii) a mismatch of 6 days, with bees occurring earlier than flowers in the latter two cases. A mismatch of 6 days caused severe fitness losses in all three bee species, as few bees survived without flowers. Females showed strongly reduced activity and reproductive output compared to synchronized bees. Fitness consequences of a 3-day mismatch were species-specific. Both the early-spring species Osmia cornuta and the mid-spring species Osmia bicornis produced the same number of brood cells after a mismatch of 3 days as under perfect synchronization. However, O. cornuta decreased the number of female offspring, whereas O. bicornis spread the brood cells over fewer nests, which may increase offspring mortality, e.g. due to parasitoids. The late-spring specialist Osmia brevicornis produced fewer brood cells even after a mismatch of 3 days. Additionally, our results suggest that fitness losses after temporal mismatches are higher during warm than cold springs, as the naturally occurring temperature variability revealed that warm temperatures during starvation decreased the survival rate of O. bicornis. We conclude that short temporal mismatches can cause clear fitness losses in solitary bees

  4. Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.

    Directory of Open Access Journals (Sweden)

    Jillian N Pearring

    2017-04-01

    Full Text Available Arf4 is proposed to be a critical regulator of membrane protein trafficking in early secretory pathway. More recently, Arf4 was also implicated in regulating ciliary trafficking, however, this has not been comprehensively tested in vivo. To directly address Arf4's role in ciliary transport, we deleted Arf4 specifically in either rod photoreceptor cells, kidney, or globally during the early postnatal period. Arf4 deletion in photoreceptors did not cause protein mislocalization or retinal degeneration, as expected if Arf4 played a role in protein transport to the ciliary outer segment. Likewise, Arf4 deletion in kidney did not cause cystic disease, as expected if Arf4 were involved in general ciliary trafficking. In contrast, global Arf4 deletion in the early postnatal period resulted in growth restriction, severe pancreatic degeneration and early death. These findings are consistent with Arf4 playing a critical role in endomembrane trafficking, particularly in the pancreas, but not in ciliary function.

  5. Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

    Science.gov (United States)

    Boissel, Sarah; Reish, Orit; Proulx, Karine; Kawagoe-Takaki, Hiroko; Sedgwick, Barbara; Yeo, Giles S.H.; Meyre, David; Golzio, Christelle; Molinari, Florence; Kadhom, Noman; Etchevers, Heather C.; Saudek, Vladimir; Farooqi, I. Sadaf; Froguel, Philippe; Lindahl, Tomas; O'Rahilly, Stephen; Munnich, Arnold; Colleaux, Laurence

    2009-01-01

    FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physiological role of FTO remains unknown. Here we show that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome. Cultured skin fibroblasts from affected subjects showed impaired proliferation and accelerated senescence. These findings indicate that FTO is essential for normal development of the central nervous and cardiovascular systems in human and establish that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome. PMID:19559399

  6. Systemic causes of hair loss.

    Science.gov (United States)

    Lin, Richard L; Garibyan, Lilit; Kimball, Alexandra B; Drake, Lynn A

    2016-09-01

    Hair loss is both a common chief complaint by patients and a clinical challenge for physicians, especially general practitioners, yet few dermatological problems yield as much patient satisfaction when resolved as hair loss. The diagnosis is often attributed to androgen-related hair loss, while other causes, some of which are life-threatening but treatable, are overlooked. We searched for relevant literature on hair loss and supported these findings with our clinical experience to identify seven major systemic etiologies of hair loss, ranging from infectious agents to consumption of unsafe supplements. Many causes are only described in the literature through case studies, though some original articles and meta-analyses are available. Careful history taking, proper examination techniques, and judicious use of laboratory tests are essential to reach at the correct diagnosis in a cost-effective manner when performing patient work-up. Such methodical evaluation of hair loss can result in the appropriate treatment plan and provide significant patient satisfaction. Key messages Hair loss is a common chief complaint and a difficult challenge for both general practitioners and dermatology consultants. We identified seven major categories of systemic hair loss etiology and present a framework for their clinical evaluation. A methodical approach to hair loss can result in the appropriate treatment plan and provide significant patient satisfaction.

  7. When Telomerase Causes Telomere Loss.

    Science.gov (United States)

    Glousker, Galina; Lingner, Joachim

    2018-02-05

    Telomerase counteracts telomere shortening, preventing cellular senescence. Telomerase deficiency causes telomere syndromes because of premature telomere exhaustion in highly proliferative cells. Paradoxically, in a recent issue of Cell, Margalef et al. (2018) demonstrate that telomerase causes telomere loss in cells lacking the RTEL1 helicase, which is defective in Hoyeraal-Hreidarsson syndrome (HHS). Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Severity and pattern of bone mineral loss in endocrine causes of osteoporosis as compared to age-related bone mineral loss

    Directory of Open Access Journals (Sweden)

    D Dutta

    2016-01-01

    Full Text Available Background: Data are scant on bone health in endocrinopathies from India. This study evaluated bone mineral density (BMD loss in endocrinopathies [Graves′ disease (GD, type 1 diabetes mellitus (T1DM, hypogonadotrophic hypogonadism (HypoH, hypergonadotropic hypogonadism (HyperH, hypopituitarism, primary hyperparathyroidism (PHPT] as compared to age-related BMD loss [postmenopausal osteoporosis (PMO, andropause]. Materials and Methods: Retrospective audit of records of patients >30 years age attending a bone clinic from August 2014 to January 2016 was done. Results: Five-hundred and seven records were screened, out of which 420 (females:male = 294:126 were analyzed. A significantly higher occurrence of vitamin D deficiency and insufficiency was noted in T1DM (89.09%, HyperH (85%, and HypoH (79.59% compared to age-related BMD loss (60.02%; P < 0.001. The occurrence of osteoporosis among females and males was 55.41% and 53.97%, respectively, and of osteopenia among females and males was 28.91% and 32.54%, respectively. In females, osteoporosis was significantly higher in T1DM (92%, HyperH (85%, and HypoH (59.26% compared to PMO (49.34%; P < 0.001. Z score at LS, TF, NOF, and greater trochanter (GT was consistently lowest in T1DM women. Among men, osteoporosis was significantly higher in T1DM (76.67% and HypoH (54.55% compared to andropause (45.45%; P = 0.001. Z score at LS, TF, NOF, GT, and TR was consistently lowest in T1DM men. In GD, the burden of osteoporosis was similar to PMO and andropause. BMD difference among the study groups was not significantly different after adjusting for body mass index (BMI and vitamin D. Conclusion: Low bone mass is extremely common in endocrinopathies, warranting routine screening and intervention. Concomitant vitamin D deficiency compounds the problem. Calcium and vitamin D supplementations may improve bone health in this setting.

  9. Causes of visual loss in uveitis

    Directory of Open Access Journals (Sweden)

    Stanković Zora

    2009-01-01

    Full Text Available Background/Aim. Epidemiological studies of blindness in a working age population require a precise definition of the true connection of uveitis and visual damage. Since most patients with more severe types of uveitis are hospitalized in tertiary referral uveitis service, our aim was to determine whether age, sex and age of onset of uveitis, as well as duration of visual loss and its causes influence the degree of visual damage in patients with different types of uveitis. Methods. The data were collected from medical records of 237 patients at the Department for Uveitis of the Institute for Eye Diseases in Belgrade over a three-year period (March 2005 to March 2008. Results. Visual acuity reduction (≤ 0.3 was found in 161/237 (67.9% patients, 85 of whom had visual acuity of ≤ 0.1 later. Working age patients (up to 60 years of age most often suffered from uveitis (173/237; 73%. The highest number of patients with visual loss was in the group suffering from panuveitis (77/94; 81.91%. The age of onset of uveitis and sex have no statistically significant influence on visual loss. The most common causes of visual loss (34/161; 21.1% were cystoid macular oedema (CMO (43/161; 26.7%, cataract (28/161; 17.39% and combination of CMO and cataract. Conclusion. The risk factors for severe visual loss (≤ 0.1 are panuveitis, bilateral inflammation, prolonged visual reduction and a significant number of relapses. The main causes of visual loss in 65.2% of our patients were CMO and cataract.

  10. A pilot study of sensory feedback by transcutaneous electrical nerve stimulation to improve manipulation deficit caused by severe sensory loss after stroke.

    Science.gov (United States)

    Kita, Kahori; Otaka, Yohei; Takeda, Kotaro; Sakata, Sachiko; Ushiba, Junichi; Kondo, Kunitsugu; Liu, Meigen; Osu, Rieko

    2013-06-13

    Sensory disturbance is common following stroke and can exacerbate functional deficits, even in patients with relatively good motor function. In particular, loss of appropriate sensory feedback in severe sensory loss impairs manipulation capability. We hypothesized that task-oriented training with sensory feedback assistance would improve manipulation capability even without sensory pathway recovery. We developed a system that provides sensory feedback by transcutaneous electrical nerve stimulation (SENS) for patients with sensory loss, and investigated the feasibility of the system in a stroke patient with severe sensory impairment and mild motor deficit. The electrical current was modulated by the force exerted by the fingertips so as to allow the patient to identify the intensity. The patient had severe sensory loss due to a right thalamic hemorrhage suffered 27 months prior to participation in the study. The patient first practiced a cylindrical grasp task with SENS for 1 hour daily over 29 days. Pressure information from the affected thumb was fed back to the unaffected shoulder. The same patient practiced a tip pinch task with SENS for 1 hour daily over 4 days. Pressure information from the affected thumb and index finger was fed back to the unaffected and affected shoulders, respectively. We assessed the feasibility of SENS and examined the improvement of manipulation capability after training with SENS. The fluctuation in fingertip force during the cylindrical grasp task gradually decreased as the training progressed. The patient was able to maintain a stable grip force after training, even without SENS. Pressure exerted by the tip pinch of the affected hand was unstable before intervention with SENS compared with that of the unaffected hand. However, they were similar to each other immediately after SENS was initiated, suggesting that the somatosensory information improved tip pinch performance. The patient's manipulation capability assessed by the Box

  11. Hepatopulmonary syndrome causing severe hypoxaemia

    DEFF Research Database (Denmark)

    Lyngsøe, Bente Kjær; Andersen, Mette Winther; Eriksen, Jan

    2014-01-01

    Dyspnoea is a common complaint in patients with chronic liver disease. Hepatopulmonary syndrome (HPS) is an important cause to be aware of in the setting of liver disease, dyspnoea and hypoxaemia. HPS causes microvascular dilatation, angiogenesis and arteriovenous bypassing. The patients suffer f...... from hypoxaemia in upright position and even during minimal psychical activity. Contrast echocardiography, using micro-bubbles as the contrast, is required to establish the diagnosis. No medical therapy is available, only liver transplantation can cure the disease....

  12. Human SOD1 ALS Mutations in a Drosophila Knock-In Model Cause Severe Phenotypes and Reveal Dosage-Sensitive Gain- and Loss-of-Function Components.

    Science.gov (United States)

    Şahin, Aslı; Held, Aaron; Bredvik, Kirsten; Major, Paxton; Achilli, Toni-Marie; Kerson, Abigail G; Wharton, Kristi; Stilwell, Geoff; Reenan, Robert

    2017-02-01

    Amyotrophic Lateral Sclerosis (ALS) is the most common adult-onset motor neuron disease and familial forms can be caused by numerous dominant mutations of the copper-zinc superoxide dismutase 1 (SOD1) gene. Substantial efforts have been invested in studying SOD1-ALS transgenic animal models; yet, the molecular mechanisms by which ALS-mutant SOD1 protein acquires toxicity are not well understood. ALS-like phenotypes in animal models are highly dependent on transgene dosage. Thus, issues of whether the ALS-like phenotypes of these models stem from overexpression of mutant alleles or from aspects of the SOD1 mutation itself are not easily deconvolved. To address concerns about levels of mutant SOD1 in disease pathogenesis, we have genetically engineered four human ALS-causing SOD1 point mutations (G37R, H48R, H71Y, and G85R) into the endogenous locus of Drosophila SOD1 (dsod) via ends-out homologous recombination and analyzed the resulting molecular, biochemical, and behavioral phenotypes. Contrary to previous transgenic models, we have recapitulated ALS-like phenotypes without overexpression of the mutant protein. Drosophila carrying homozygous mutations rendering SOD1 protein enzymatically inactive (G85R, H48R, and H71Y) exhibited neurodegeneration, locomotor deficits, and shortened life span. The mutation retaining enzymatic activity (G37R) was phenotypically indistinguishable from controls. While the observed mutant dsod phenotypes were recessive, a gain-of-function component was uncovered through dosage studies and comparisons with age-matched dsod null animals, which failed to show severe locomotor defects or nerve degeneration. We conclude that the Drosophila knock-in model captures important aspects of human SOD1-based ALS and provides a powerful and useful tool for further genetic studies. Copyright © 2017 by the Genetics Society of America.

  13. Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.

    Science.gov (United States)

    Harms, F L; Nampoothiri, S; Kortüm, F; Thomas, J; Panicker, V V; Alawi, M; Altmüller, J; Yesodharan, D; Kutsche, K

    2018-06-27

    Next-generation sequencing (NGS), especially multi-gene panels and whole-exome sequencing (WES), is a tool for identifying the cause of monogenic disorders and has played a role in uncovering the genetic cause of previously uncharacterized genodermatoses. 1 By the application of NGS, the concept of apparently novel or atypical clinical presentations has been challenged by the finding of two or more genetic diagnoses in affected individuals. Approximately 5% of cases in which WES was informative had dual or multiple molecular diagnoses. 2 This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  14. Genetic Causes of Recurrent Pregnancy Loss.

    Science.gov (United States)

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted.

  15. Hair Loss: Common Causes and Treatment.

    Science.gov (United States)

    Phillips, T Grant; Slomiany, W Paul; Allison, Robert

    2017-09-15

    Hair loss is often distressing and can have a significant effect on the patient's quality of life. Patients may present to their family physician first with diffuse or patchy hair loss. Scarring alopecia is best evaluated by a dermatologist. Nonscarring alopecias can be readily diagnosed and treated in the family physician's office. Androgenetic alopecia can be diagnosed clinically and treated with minoxidil. Alopecia areata is diagnosed by typical patches of hair loss and is self-limited. Tinea capitis causes patches of alopecia that may be erythematous and scaly and must be treated systemically. Telogen effluvium is a nonscarring, noninflammatory alopecia of relatively sudden onset caused by physiologic or emotional stress. Once the precipitating cause is removed, the hair typically will regrow. Trichotillomania is an impulse-control disorder; treatment is aimed at controlling the underlying psychiatric condition. Trichorrhexis nodosa occurs when hairs break secondary to trauma and is often a result of hair styling or overuse of hair products. Anagen effluvium is the abnormal diffuse loss of hair during the growth phase caused by an event that impairs the mitotic activity of the hair follicle, most commonly chemotherapy. Physician support is especially important for patients in this situation.

  16. Economic Loss Caused by GMOs in Denmark

    DEFF Research Database (Denmark)

    Ulfbeck, Vibe Garf

    2008-01-01

    This book presents how European jurisdictions currently respond to economic losses caused by the admixture of gentically modified crops with conventional or organic crops and what alternatives there are from a comparative perspective. Country reports from most European countries are complemented ...

  17. An Unexpected Cause of Severe Hypokalemia

    Directory of Open Access Journals (Sweden)

    Fernando Caravaca-Fontan

    2015-01-01

    Full Text Available We describe an unusual case of severe hypokalemia with electrocardiographic changes, due to licorice consumption, in a 15-year-old female student with no previous medical history. Prompt replacement of potassium and cessation of licorice ingestion resulted in a favourable outcome. We also discuss the pathophysiology and diagnosis, emphasizing the importance of a detailed anamnesis to rule out an often forgotten cause of hypokalemia as the licorice poisoning.

  18. Judged seriousness of environmental losses: reliability and cause of loss

    Science.gov (United States)

    Thomas C. Brown; Dawn Nannini; Robert B. Gorter; Paul A. Bell; George L. Peterson

    2002-01-01

    Public judgments of the seriousness of environmental losses were found to be internally consistent for most respondents, and largely unaffected by attempts to manipulate responses by altering the mix of losses being judged. Both findings enhance confidence in the feasibility of developing reliable rankings of the seriousness of environmental losses to aid resource...

  19. 7 CFR 1437.9 - Causes of loss.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 10 2010-01-01 2010-01-01 false Causes of loss. 1437.9 Section 1437.9 Agriculture... Provisions § 1437.9 Causes of loss. (a) To be eligible for benefits under this part, an eligible cause of loss must result in: (1) A loss of production greater than 50 percent of the approved yield in...

  20. 7 CFR 760.611 - Qualifying losses, eligible causes and types of loss.

    Science.gov (United States)

    2010-01-01

    ... final planting date; (4) The cause of loss was due to water contained or released by any governmental... containment or release of the water; (5) The cause of loss was due to conditions or events occurring outside...) Losses caused by a failure of power supply or brownout as defined in § 760.602; (2) Losses caused by the...

  1. Gastric antral vascular ectasia causing severe anemia.

    Science.gov (United States)

    Toyota, M; Hinoda, Y; Nakagawa, N; Arimura, Y; Tokuchi, S; Takaoka, A; Kitagawa, S; Usuki, T; Yabana, T; Yachi, A; Imai, K

    1996-10-01

    Gastric antral vascular ectasia (GAVE) that caused continuous gastrointestinal bleeding is reported in a 76-year-old woman who had been treated with repeated blood transfusions because of severe anemia. Endoscopic examination was performed and diffuse speckled telangiectasia of the entire antrum was observed. Laboratory data showed SGOT > SGPT, decreased chE level and the increased levels of serum gastrin and ICG at 15 min. Anti-HCV antibody was positive. Image examination revealed splenomegaly. There was no family history of telangiectasia, and no telangiectasia was found in other organs. The diagnosis was established as GAVE with liver cirrhosis. Surgical resection of the distal stomach resulted in termination of the bleeding, and the cirrhotic changes of the surface of the liver were revealed at that time, providing further evidence of liver cirrhosis. Although the pathogenesis of GAVE is unknown, liver cirrhosis and hypergastrinemia are thought to be associated with the condition. Importantly, this condition is a cause of severe gastrointestinal bleeding in elderly patients.

  2. PPIB mutations cause severe osteogenesis imperfecta.

    Science.gov (United States)

    van Dijk, Fleur S; Nesbitt, Isabel M; Zwikstra, Eline H; Nikkels, Peter G J; Piersma, Sander R; Fratantoni, Silvina A; Jimenez, Connie R; Huizer, Margriet; Morsman, Alice C; Cobben, Jan M; van Roij, Mirjam H H; Elting, Mariet W; Verbeke, Jonathan I M L; Wijnaendts, Liliane C D; Shaw, Nick J; Högler, Wolfgang; McKeown, Carole; Sistermans, Erik A; Dalton, Ann; Meijers-Heijboer, Hanne; Pals, Gerard

    2009-10-01

    Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position 986 (P986) in the alpha1 chains of collagen type I. This 3-prolyl hydroxylation is decreased in patients with CRTAP and P3H1 deficiency. It was suspected that mutations in the PPIB gene encoding CyPB would also cause OI with decreased collagen 3-prolyl hydroxylation. To our knowledge we present the first two families with recessive OI caused by PPIB gene mutations. The clinical phenotype is compatible with OI Sillence type II-B/III as seen with COL1A1/2, CRTAP, and LEPRE1 mutations. The percentage of 3-hydroxylated P986 residues in patients with PPIB mutations is decreased in comparison to normal, but it is higher than in patients with CRTAP and LEPRE1 mutations. This result and the fact that CyPB is demonstrable independent of CRTAP and P3H1, along with reported decreased 3-prolyl hydroxylation due to deficiency of CRTAP lacking the catalytic hydroxylation domain and the known function of CyPB as a cis-trans isomerase, suggest that recessive OI is caused by a dysfunctional P3H1/CRTAP/CyPB complex rather than by the lack of 3-prolyl hydroxylation of a single proline residue in the alpha1 chains of collagen type I.

  3. Does job loss cause ill health?

    NARCIS (Netherlands)

    Salm, M.

    2009-01-01

    This study estimates the effect of job loss on health for near elderly employees based on longitudinal data from the Health and Retirement Study. Previous studies find a strong negative correlation between unemployment and health. To control for possible reverse causality, this study focuses on

  4. Core loss during a severe accident (COLOSS)

    International Nuclear Information System (INIS)

    Adroguer, B.; Bertrand, F.; Chatelard, P.; Cocuaud, N.; Van Dorsselaere, J.P.; Bellenfant, L.; Knocke, D.; Bottomley, D.; Vrtilkova, V.; Belovsky, L.; Mueller, K.; Hering, W.; Homann, C.; Krauss, W.; Miassoedov, A.; Schanz, G.; Steinbrueck, M.; Stuckert, J.; Hozer, Z.; Bandini, G.; Birchley, J.; Berlepsch, T. von; Kleinhietpass, I.; Buck, M.; Benitez, J.A.F.; Virtanen, E.; Marguet, S.; Azarian, G.; Caillaux, A.; Plank, H.; Boldyrev, A.; Veshchunov, M.; Kobzar, V.; Zvonarev, Y.; Goryachev, A.

    2005-01-01

    The COLOSS project was a 3-year shared-cost action, which started in February 2000. The work-programme performed by 19 partners was shaped around complementary activities aimed at improving severe accident codes. Unresolved risk-relevant issues regarding H 2 production, melt generation and the source term were studied through a large number of experiments such as (a) dissolution of fresh and high burn-up UO 2 and MOX by molten Zircaloy (b) simultaneous dissolution of UO 2 and ZrO 2 (c) oxidation of U-O-Zr mixtures (d) degradation-oxidation of B 4 C control rods. Corresponding models were developed and implemented in severe accident computer codes. Upgraded codes were then used to apply results in plant calculations and evaluate their consequences on key severe accident sequences in different plants involving B 4 C control rods and in the TMI-2 accident. Significant results have been produced from separate-effects, semi-global and large-scale tests on COLOSS topics enabling the development and validation of models and the improvement of some severe accident codes. Breakthroughs were achieved on some issues for which more data are needed for consolidation of the modelling in particular on burn-up effects on UO 2 and MOX dissolution and oxidation of U-O-Zr and B 4 C-metal mixtures. There was experimental evidence that the oxidation of these mixtures can contribute significantly to the large H 2 production observed during the reflooding of degraded cores under severe accident conditions. The plant calculation activity enabled (a) the assessment of codes to calculate core degradation with the identification of main uncertainties and needs for short-term developments and (b) the identification of safety implications of new results. Main results and recommendations for future R and D activities are summarized in this paper

  5. Hormonal causes of recurrent pregnancy loss (RPL).

    Science.gov (United States)

    Pluchino, Nicola; Drakopoulos, Panagiotis; Wenger, Jean Marie; Petignat, Patrick; Streuli, Isabelle; Genazzani, Andrea Riccardo

    2014-01-01

    Endocrine disorders play a major role in approximately 8% to 12% of recurrent pregnancy loss (RPL). Indeed, the local hormonal milieu is crucial in both embryo attachment and early pregnancy. Endocrine abnormalities, including thyroid disorders, luteal phase defects, polycystic ovary syndrome, hyperprolactinaemia and diabetes have to be evaluated in any case of RPL. Moreover, elevated androgen levels and some endocrinological aspects of endometriosis are also factors contributing to RPL. In the present article, we review the significance of endocrine disease on RPL.

  6. FEMA Hazard Mitigation Assistance Severe Repetitive Loss (SRL) Data

    Data.gov (United States)

    Department of Homeland Security — This dataset contains closed and obligated projects funded under the following Hazard Mitigation Assistance (HMA) grant programs: Severe Repetitive Loss (SRL). The...

  7. Does occupational noise cause asymmetric hearing loss?

    Science.gov (United States)

    Dobie, Robert A

    2014-01-01

    Determine whether occupational noise exposure increases audiometric asymmetry. Audiograms were performed on 2044 men from the Occupational Noise and Hearing Survey, representing four groups based on preliminary screening (for previous noise exposure, otologic history, and otoscopy) and current occupational noise exposure. The effects of current noise exposure on audiometric asymmetry were tested using ANCOVA, with binaural average thresholds as covariates. There were no significant differences in asymmetry attributable to current occupational noise exposure. Occupational noise exposure does not usually cause or exacerbate audiometric asymmetry.

  8. PPIB mutations cause severe osteogenesis imperfecta

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Nesbitt, Isabel M.; Zwikstra, Eline H.; Nikkels, Peter G. J.; Piersma, Sander R.; Fratantoni, Silvina A.; Jimenez, Connie R.; Huizer, Margriet; Morsman, Alice C.; Cobben, Jan M.; van Roij, Mirjam H. H.; Elting, Mariet W.; Verbeke, Jonathan I. M. L.; Wijnaendts, Liliane C. D.; Shaw, Nick J.; Högler, Wolfgang; McKeown, Carole; Sistermans, Erik A.; Dalton, Ann; Meijers-Heijboer, Hanne; Pals, Gerard

    2009-01-01

    Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position

  9. Recurrent Pregnancy Loss: Generally Accepted Causes and Their Management.

    Science.gov (United States)

    Kaiser, Jennifer; Branch, D Ware

    2016-09-01

    Recurrent pregnancy loss (RPL), commonly defined as 3 consecutive losses causes include uterine malformation, antiphospholipid syndrome, and parental chromosomal abnormalities; however, the majority of RPL cases are idiopathic (up to 75%). This chapter covers these accepted causes of RPL and provides diagnosis and management strategies for patients falling within the above categories.

  10. Diagnosis of Hair Loss: Clinical features of common causes of hair loss

    OpenAIRE

    Coupe, Robert L.M.

    1992-01-01

    Common causes of hair loss include androgenic hair loss, alopecia areata, trichotillomania, tinea capitis, telogen effluvium, and traction alopecia. The author discusses their distinguishing clinical features and those of less common alopecias.

  11. Heat losses in power boilers caused by thermal bridges

    Directory of Open Access Journals (Sweden)

    Kocot Monika

    2017-01-01

    Full Text Available In this article the analysis of heat losses caused by thermal bridges that occur in the steam boiler OP-140 is presented. Identification of these bridges were conducted with use of thermographic camera. Heat losses were evaluated based on methodology of VDI 4610 standard, but instead of its simplified equations, criterial equations based on Nusselt number were used. Obtained values of annual heat losses and heat flux density corresponding to the fully insulated boiler surfaces were compared to heat losses generated by thermal bridges located in the same areas. The emphasis is put on the role of industrial insulation in heat losses reduction.

  12. [Intractable diarrhoea and severe weight loss by roflumilast].

    Science.gov (United States)

    Horna, Oihana; Toyas, Carla

    2013-08-04

    Roflumilast is a recently marketed drug, indicated for maintenance treatment of severe chronic obstructive pulmonary disease associated with chronic bronchitis in adult patients with a history of frequent exacerbations as add on to bronchodilator treatment. The safety data of this drug have always been subjected to controversy and concerns. The Food and Drug Administration rejected the drug after the first evaluation, asking the company to clarify the adverse reactions during the investigation process, the European Medicines Agency approved the drug including a Risk Management Plan, designed to promote a safe use of the drug. During the first months after the marketing process, the Spanish Pharmacovigilance System has already been acquainted of several adverse events notifications; therefore, these patients may be closely monitored, mainly because of digestive and psychiatric disorders. Here we report the case of a female patient who showed a serious digestive clinical profile and a severe weight loss, more than 25% of her initial weight, when a treatment with roflumilast was started. The suspicion of a side effect as the cause of the reported clinical profile and its resolution required 3 hospital admissions. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  13. Schizophrenia illness severity is associated with reduced loss aversion.

    Science.gov (United States)

    Currie, James; Buruju, Dheeraj; Perrin, Jennifer S; Reid, Ian C; Steele, J Douglas; Feltovich, Nick

    2017-06-01

    Loss aversion, whereby losses weigh more heavily than equal-sized gains, has been demonstrated in many decision-making settings. Previous research has suggested reduced loss aversion in schizophrenia, but with little evidence of a link between loss aversion and schizophrenia illness severity. In this study, 20 individuals with schizophrenia and 16 control participants, matched by age and sex, played two versions of the Iterated Prisoners' Dilemma, one version with only positive payoffs and another version in which negative payoffs were possible, with the second version being derived from the first by subtracting a constant value from all payoffs. The control group demonstrated significantly lower cooperation rates under negative payoffs, compared with the version with only positive payoffs, indicative of loss aversion. The patient group on average showed no loss aversion response. Moreover, the extent of loss aversion in patients was found to be negatively correlated with schizophrenia illness severity, with less ill patients showing loss aversion more similar to controls. Results were found to be robust to the inclusion of potential confounding factors as covariates within rigorous probit regression analyses. Reduced loss aversion is a feature of schizophrenia and related to illness severity. Copyright © 2017. Published by Elsevier B.V.

  14. Allocation of Load-Loss Cost Caused by Voltage Sag

    Science.gov (United States)

    Gao, X.

    2017-10-01

    This paper focuses on the allocation of load-loss cost caused by voltage sag in the environment of electricity market. To compensate the loss of loads due to voltage sags, the load-loss cost is allocated to both sources and power consumers. On the basis of Load Drop Cost (LDC), a quantitative evaluation index of load-loss cost caused by voltage sag is identified. The load-loss cost to be allocated to power consumers themselves is calculated according to load classification. Based on the theory of power component the quantitative relation between sources and loads is established, thereby a quantitative calculation method for load-loss cost allocated to each source is deduced and the quantitative compensation from individual source to load is proposed. A simple five-bus system illustrates the main features of the proposed method.

  15. ECONOMIC LOSSES CAUSED BY TRAUMATIC BRAIN INJURY IN CHILDREN

    Directory of Open Access Journals (Sweden)

    S. A. Valiulina

    2015-01-01

    Full Text Available Background: Currently, analyzing the economic losses caused by health problems in population is of particular importance since it stipulates calculations of the volumes invested in healthcare systems in order to improve population’s health. Objective: The aim of our study was to find out economic losses caused by traumatic brain injury (TBI in children. Methods: The given work has utilized governmental statistical reports for Russia, for federal regions as well as for individual subjects. Direct medical expenses (medical services and indirect expenses (losses due to a temporary disability of parents having a sick child were calculated both in general and per patient. Results: Among all the direct medical costs of treatment of children with TBI inpatient care costs account for 85%. In the Central and Volga Federal District accounted for half of nationwide spending in general, brain injury and to provide certain kinds of healthcare. The structure of Russian costs as a result of the incidence of TBI children Moscow accounts for 20%. In Moscow, the cost of treating cases of traumatic brain injury in children is 3.2 times higher than the average for Russia. The resulting calculations of the value of health care costs attributable to a case of child head injury, behind the cost of treatment of the case of a child with head trauma, calculated according to the standards of Russia and the territories. This difference in the whole RF is 23%. Conclusion: The obtained findings have shown that in 2010 in Russia the magnitude of losses caused by TBI incidence in children amounted to 3 billion roubles or 0.008% of the gross product 1.2 billion roubles of which were direct expenses. However, this figure is considerably lower of the real amount; it becomes evident after the analysis of direct medical expenses per one case of pediatric TBI. Our calculations have shown that in Russia and in its regions the amount of expenses per one TBI patient is a quarter less

  16. Shortened stapedius tendon: a rare cause of conductive hearing loss.

    Science.gov (United States)

    Zawawi, F; Varshney, R; Schloss, M D

    2014-01-01

    Anomalies of the stapedius tendon have been reported to cause conductive hearing loss; in theory, such anomalies limit the movement of the stapes. To demonstrate a rare cause of conductive hearing loss resulting from anomaly of the stapedius tendon and to compare the clinical findings of this patient to other stapedius tendon anomalies reported in the literature. Case report of a single case of shortened stapedius tendon and a review of the English literature on stapedius tendon anomalies. This is a case report of a 15-year-old boy with shortened stapedius tendon causing unilateral hearing loss, accompanied by a review of the literature. Contrary to other reported cases, this patient did not have an ossified tendon, but rather an extremely short tendon. The boy regained normal hearing following excision of the stapedius tendon. A shortened stapedius tendon is a very rare diagnosis, yet it should be considered as a possible cause of conductive hearing loss.

  17. Heat stress causes substantial labour productivity loss in Australia

    Science.gov (United States)

    Zander, Kerstin K.; Botzen, Wouter J. W.; Oppermann, Elspeth; Kjellstrom, Tord; Garnett, Stephen T.

    2015-07-01

    Heat stress at the workplace is an occupational health hazard that reduces labour productivity. Assessment of productivity loss resulting from climate change has so far been based on physiological models of heat exposure. These models suggest productivity may decrease by 11-27% by 2080 in hot regions such as Asia and the Caribbean, and globally by up to 20% in hot months by 2050. Using an approach derived from health economics, we describe self-reported estimates of work absenteeism and reductions in work performance caused by heat in Australia during 2013/2014. We found that the annual costs were US$655 per person across a representative sample of 1,726 employed Australians. This represents an annual economic burden of around US$6.2 billion (95% CI: 5.2-7.3 billion) for the Australian workforce. This amounts to 0.33 to 0.47% of Australia’s GDP. Although this was a period when many Australians experienced what is at present considered exceptional heat, our results suggest that adaptation measures to reduce heat effects should be adopted widely if severe economic impacts from labour productivity loss are to be avoided if heat waves become as frequent as predicted.

  18. Study of the thermal noise caused by inhomogeneously distributed loss

    CERN Document Server

    Yamamoto, K; Ando, M; Kawabe, K; Tsubono, K

    2002-01-01

    The normal modal expansion is the most frequently used method to estimate the thermal noise of interferometric gravitational wave detectors. However, the method does not agree with new estimation methods, direct approaches, when the loss is distributed inhomogeneously. We have checked the modal expansion and direct approaches experimentally using a mechanical oscillator, such as a mirror. The experiments showed that the modal expansion is invalid. On the other hand, the measured spectra are consistent with the direct approaches. We calculated the thermal noise of a real mirror with inhomogeneous loss using the direct approaches. This calculation showed that the thermal motions caused by loss in the reflective coating and at coil-magnet actuators are comparable with the sensitivity goals of future gravitational wave detector projects. In addition, according to our calculation, a mechanical loss may cause much larger or much smaller thermal motion than is expected in modal expansion, depending on the loss distr...

  19. Oral Health Problems And Causes Of Tooth Loss At The University ...

    African Journals Online (AJOL)

    Context Several oral diseases and conditions are associated with tooth loss. Objective: The aim of this study was to determine the prevalence of oral health problems seen at the University of Nigeria Teaching Hospital (UNTH) in one year with the view to highlighting causes of tooth loss in this environment. Methods This ...

  20. Science 101: What Causes Severe Thunderstorms and Tornadoes?

    Science.gov (United States)

    Robertson, Bill

    2016-01-01

    What causes severe thunderstorms and tornadoes? Tornadoes, often accompanied by severe thunderstorms and hail, form in pretty much the same way as severe thunderstorms. In the continental United States, tornadoes usually form in spring and summer, when warm, humid air from the Gulf of Mexico moves across the continent from southeast to northwest…

  1. Myopic loss aversion: Potential causes of replication failures

    Directory of Open Access Journals (Sweden)

    Alexander Klos

    2013-09-01

    Full Text Available This paper presents two studies on narrow bracketing and myopic loss aversion. The first study shows that the tendency to segregate multiple gambles is eliminated if subjects face a certainty equivalent or a probability equivalent task instead of a binary choice. The second study argues that the behavioral differences previously attributed entirely to myopic loss aversion are partly because long-term return properties are simply easier to grasp if the return information is already provided in the form of long-term returns rather than one-year returns. Both results may be related to recent failures to replicate myopic loss aversion. When the choice situation is structured in such a way that it draws respondents' attention to the final outcome distribution and/or if severe misestimations of long-term returns based on short-term return information are unlikely, behavioral differences consistent with myopic loss aversion are less likely to be observed.

  2. Acute sensorineural hearing loss and severe otalgia due to scrub typhus

    Directory of Open Access Journals (Sweden)

    Kim Dong-Min

    2009-10-01

    Full Text Available Abstract Background Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi. Case presentations We encountered a patient with sensorineural hearing loss complicating scrub typhus, and three patients with scrub typhus who complained of otalgia, which was sudden onset, severe, paroxysmal, intermittent yet persistent pain lasting for several seconds, appeared within 1 week after the onset of fever and rash. The acute sensorineural hearing loss and otalgia were resolved after antibiotic administration. Conclusion When patients in endemic areas present with fever and rash and have sensorineural hearing loss or otalgia without otoscopic abnormalities, clinicians should suspect scrub typhus and consider empirical antibiotic therapy.

  3. Loss of Dignity in Severe Chronic Obstructive Pulmonary Disease.

    Science.gov (United States)

    Solomon, Brahm K; Wilson, Keith G; Henderson, Peter R; Poulin, Patricia A; Kowal, John; McKim, Douglas A

    2016-03-01

    The maintenance of dignity is an important concept in palliative care, and the loss of dignity is a significant concern among patients with advanced cancer. The goals of this study were to examine whether loss of dignity is also a concern for patients receiving interdisciplinary rehabilitation for Stage III or IV chronic obstructive pulmonary disease. We examined the prevalence and correlates of loss of dignity and determined whether it improves with treatment. Inpatients underwent a structured interview inquiry around their sense of dignity and completed measures of pulmonary, physical, and psychological function at admission (n = 195) and discharge (n = 162). Loss of dignity was identified as a prominent ongoing concern for 13% of patients. It was correlated with measures of depression and anxiety sensitivity, but not with pulmonary capacity or functional performance. A robust improvement in loss of dignity was demonstrated, with 88% of those who reported a significant problem at admission no longer reporting one at discharge. The prevalence of a problematic loss of dignity among patients with severe chronic obstructive pulmonary disease is at least as high as among those receiving palliative cancer care. Loss of dignity may represent a concern among people with medical illnesses more broadly, and not just in the context of "death with dignity" at the end of life. Furthermore, interdisciplinary care may help to restore a sense of dignity to those individuals who are able to participate in rehabilitation. Copyright © 2016 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

  4. Hibernation Based Therapy to Improve Survival of Severe Blood Loss

    Science.gov (United States)

    2016-06-01

    leaks extravascularly • Necrosis and inflammation involving the ear tip is considered to be a more severe manifestation of vascular damage associated...similar lesions to the 2M test solution, it appears that 2M test solution is more likely to cause vascular necrosis and inflammation (noted at 24 hours...injections • Although DMSO induced similar lesions to the 4M test solution, it appears that 4M test solution is more likely to cause vascular necrosis and

  5. A rare cause of severe hepatomegaly with an improving outcome

    DEFF Research Database (Denmark)

    Godskesen, Line Elberg; Abildgaard, Niels; Kjeldsen, Jens

    2014-01-01

    A previously healthy 43-year-old man presented with dyspnoea, 15 kg weight loss, severe hepatomegaly and alkaline phosphatase at 5400 U/L. Examinations seemed to suggest cirrhosis, but blood samples did not show any signs of underlying liver disease. Liver biopsy revealed amyloid light chain (AL...

  6. On losses caused in RF cavities by longitudinal electric fields

    International Nuclear Information System (INIS)

    Halbritter, J.

    1976-02-01

    Rf modes with large longitudinal electric fields (div E vector unequal to 0) at the cavity wall systematically show worse rf properties than modes with div E vector identical with 0; e.g. enlarged rf residual losses. While magnetic residual losses R sub(res) proportional f 2 are due to uncharged inhomogeneities in the oxide coating the metal, the electric residual losses R sub(orthogonal) occur via charged states in the oxide: the recharging of those states by tunnel exchange causes excitation across the energy gap of the superconductor yielding residual losses at high rf field strengths. The interaction of E sub(orthogonal) with the charges generate (longitudinal) phonons showing up as contribution to R sub(orthogonal). The resulting R sub(orthogonal) increases with E sub(orthogonal) and is nearly independent of frequency f, indicating the importance of R sub(orthogonal) for low frequency sc cavities, especially at high field strengths. In addition R sub(orthogonal) can account for the observed large residual losses of strip line modes in narrow junctions and joints between superconductors. (orig.) [de

  7. Treatment of severe mitral regurgitation caused by lesions in both ...

    African Journals Online (AJOL)

    Mitral valve plasty (MVP) is preferred over mitral valve replacement (MVR) for mitral regurgitation in humans because of its favorable effect on quality of life. In small dogs, it is difficult to repair multiple lesions in both leaflets using MVP. Herein, we report a case of severe mitral regurgitation caused by multiple severe lesions ...

  8. [Acute hearing loss and tinnitus caused by amplified recreational music].

    Science.gov (United States)

    Metternich, F U; Brusis, T

    1999-11-01

    Hearing loss resulting from exposure to permanent or repeated amplified music in professional musicians and music consumers is described in literature. The risk of hearing loss does not exist only after prolonged exposure to music. Short-term exposure to very high sound levels, for example in concerts, can also cause hearing loss and tinnitus. The retrospective study includes 24 patients who required rheologic therapy between 1994 and 1997 due to a music related acoustic trauma. The type, intensity, and length of music exposure as well as the distance and the position to the source of noise were examined. The type of hearing damage and its development during rheological treatment was studied by pure-tone audiometry. In the majority of examined patients (67%) the hearing loss developed on the basis of one-time exposure at a rock concert or pop concert, followed by hearing loss from attending discotheques (17%) or parties (12%), and music exposure from personal cassette players (4%). The majority of patients showed a maximum hearing loss of 40-60 dB (A) in a frequency between 3 kHz and 4 kHz. Pure-tone audiometry in 58% of the patients exhibited a unilateral threshold in a frequency between 3 kHz and 4 kHz combined with ipsilateral tinnitus of the same frequency. Twenty-one percent of the patients showed a symmetric bilateral threshold and tinnitus between 3 kHz and 4 kHz. In 8% there was a unilateral tinnitus, and in 13% a bilateral tinnitus without any hearing loss. All patients improved their hearing loss during rheologic treatment. Improvement in the tinnitus was only achieved in 33% of the examined cases. The risk of permanent hearing loss resulting from short-term exposure to amplified music is low compared to the risk of continuous tinnitus. Given the lack of acceptance of personal ear protectors, the risk of acute hearing damage due to amplified music could be reduced by avoiding the immediate proximity to the speakers.

  9. Weeds Cause Losses in Field Crops through Allelopathy

    Directory of Open Access Journals (Sweden)

    Ali ZOHAIB

    2016-03-01

    Full Text Available A large number of weeds are known to be associated with crops and causing economic losses. Weeds interfere with crops through competition and allelopathy. They produce secondary metabolites known as allelochemicals, which belong to numerous chemical classes such as phenolics, alkaloids, fatty acids, indoles, terpens etc. However, phenolics are the predominant class of allelochemicals. The allelochemicals release from weed plants takes place through leaf leachates, decomposition of plant residues, volatilization and root exudates. Weeds leave huge quantities of their residues in field and affect the associated, as well as succeeding crops, in various cropping systems. Liberation of allelochemicals from weeds affects the germination, stand establishment, growth, yield and physiology of crop plants. They cause substantial reduction in germination and growth of the crop plants by altering various physiological processes such as enzyme activity, protein synthesis, photosynthesis, respiration, cell division and enlargement, which ultimately leads to a significant reduction in crop yield. In crux, allelopathic weeds represent a potential threat for crop plants and cause economic losses.

  10. The losses at power grid caused by small nonlinear loads

    Directory of Open Access Journals (Sweden)

    Stevanović Dejan

    2013-01-01

    Full Text Available The difference between registered active power and spent unregistered power represents the losses at power grid. This paper treats problems related to losses caused by nonlinear loads connected to the power grid. In recent years the load profile of power consumers turned from energy-waster linear to energysaver but non-linear loads. The main cause of the losses appears due to the lack of adequate measurement equipment. Namely, common household power meters register only active energy, while power meters for industrial application register reactive energy as well. This approach does not follow the change of the enduser profile. Tendency of improving energy efficiency brought wide use of switching mode regulators and replace old incandescent light bulb with new energy saving lamps (CFL - compact fluorescent lamp, LED bulb. Therefore, the number of non-linear load drastically increased. Registering only active component of power at consumer’s side does not depict the real profile of the consumption. Therefore, in this paper we analyse and quantify the effects of nonlinear loads at power losses. As a result we suggest an efficient method for measuring the distortion component of power. The method relays on low-cost upgrade of commercial electronic power meters. The presented results of measurements on small non-linear loads confirm the proposed technique. Besides, they prove the importance of measuring all components of apparent power and justified their use in billing policy. The implemented set-up is based on power meter manufactured by EWG of Niš. [Projekat Ministarstva nauke Republike Srbije, br. TR32004

  11. [Causes and management of severe acute liver damage during pregnancy].

    Science.gov (United States)

    Sepulveda-Martinez, Alvaro; Romero, Carlos; Juarez, Guido; Hasbun, Jorge; Parra-Cordero, Mauro

    2015-05-01

    Abnormalities in liver function tests appear in 3% of pregnancies. Severe acute liver damage can be an exclusive condition of pregnancy (dependent or independent of pre-eclampsia) or a concomitant disease. HELLP syndrome and acute fatty liver of pregnancy are the most severe liver diseases associated with pregnancy. Both appear during the third trimester and have a similar clinical presentation. Acute fatty liver may be associated with hypoglycemia and HELLP syndrome is closely linked with pre-eclampsia. Among concomitant conditions, fulminant acute hepatitis caused by medications or virus is the most severe disease. Its clinical presentation may be hyper-acute with neurological involvement and severe coagulation disorders. It has a high mortality and patients should be transplanted. Fulminant hepatic failure caused by acetaminophen overdose can be managed with n-acetyl cysteine. Because of the high fetal mortality rate, the gestational age at diagnosis is crucial.

  12. Systematic review of severe acute liver injury caused by terbinafine.

    Science.gov (United States)

    Yan, Jun; Wang, Xiaolin; Chen, Shengli

    2014-08-01

    Terbinafine is an effective antimicrobial agent against dermatophytes, cryptococcus and other fungi. It is the preferred drug to treat onychomycosis. However, severe acute hepatitis from oral terbinafine administration has been recently reported. To describe a representative case, and review the literature regarding the best evidence on treatment and prognosis of severe acute hepatitis caused by oral terbinafine. The literature was searched for publications on severe hepatitis caused by terbinafine using MEDLINE, China Biology Medicine Disc, and the VIP Medical Information Resource System. Related references were searched manually. Seventeen English and three Chinese references of case reports were included after eliminating duplicate publications. No randomized control studies were found. Liver enzyme levels were found to have been increased significantly. Abdominal ultrasound demonstrated cholestasis. Severe acute liver injury is a known, but unusual complication of terbinafine exposure. The prognosis is often good with appropriate treatment. Liver function assessment before treatment and periodic monitoring 4-6 weeks after initiation of treatment is recommended.

  13. Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses.

    Science.gov (United States)

    Murase, Toshio; Okubo, Minoru; Ebara, Tetsu; Mori, Yasumichi

    Severe hypertriglyceridemia (>1000 mg/dL) has a variety of causes and frequently leads to life-threating acute pancreatitis. However, the origins of this disorder are unclear for many patients. We aimed to characterize the causes of and responses to therapy in rare cases of severe hypertriglyceridemia in a group of Japanese patients. We enrolled 121 patients from a series of case studies that spanned 30 years. Subjects were divided into 3 groups: (1) primary (genetic causes); (2) secondary (acquired); and (3) disorders of uncertain causes. In the last group, we focused on 3 possible risks factors for hypertriglyceridemia: obesity, diabetes mellitus, and heavy alcohol intake. Group A (n = 20) included 13 patients with familial lipoprotein lipase deficiency, 3 patients with apolipoprotein CII deficiency, and other genetic disorders in the rest of the group. Group B patients (n = 15) had various metabolic and endocrine diseases. In Group C (uncertain causes; n = 86), there was conspicuous gender imbalance (79 males, 3 females) and most male subjects were heavy alcohol drinkers. In addition, 18 of 105 adult patients (17%) had histories of acute pancreatitis. The cause of severe hypertriglyceridemia is uncertain in many patients. In primary genetic forms of severe hypertriglyceridemia, genetic diversity between populations is unknown. In the acquired forms, we found fewer cases of estrogen-induced hypertriglyceridemia than in Western countries. In our clinical experience, the cause of most hypertriglyceridemia is uncertain. Our work suggests that genetic factors for plasma triglyceride sensitivity to alcohol should be explored. Copyright © 2017 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  14. Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice

    Directory of Open Access Journals (Sweden)

    Yanfei Wang

    2017-12-01

    Full Text Available Calcium and integrin-binding protein 2 (CIB2 belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Among the family members, the Cib1 and Cib2 genes are expressed in mouse cochlear hair cells, and mutations in the human CIB2 gene have been associated with nonsyndromic deafness DFNB48 and syndromic deafness USH1J. To further explore the function of CIB1 and CIB2 in hearing, we established Cib1 and Cib2 knockout mice using the clustered regularly interspaced short palindromic repeat (CRISPR-associated Cas9 nuclease (CRISPR/Cas9 genome editing technique. We found that loss of CIB1 protein does not affect auditory function, whereas loss of CIB2 protein causes profound hearing loss in mice. Further investigation revealed that hair cell stereocilia development is affected in Cib2 knockout mice. Noticeably, loss of CIB2 abolishes mechanoelectrical transduction (MET currents in auditory hair cells. In conclusion, we show here that although both CIB1 and CIB2 are readily detected in the cochlea, only loss of CIB2 results in profound hearing loss, and that CIB2 is essential for auditory hair cell MET.

  15. Genetic mutation susceptibility of hearing loss in child with severe neonatal jaundice

    International Nuclear Information System (INIS)

    Zahedi, F.D.; Rahman, R.A.; Abdullah, A.

    2015-01-01

    This case report demonstrates a case of 5-year-old non-syndromic Malay boy who passed the hearing screening test however he was confirmed has bilateral profound sensorineural hearing loss diagnosed at 3 months of age by brain stem evoked response (BSER). He has background history of severe neonatal jaundice and male siblings of hearing impairment. The antenatal and birth history was uneventful apart from maternal hypothyroidism. His other two elder brothers have bilateral sensorineural hearing loss and history of severe neonatal jaundice as well. The ear examinations, computed tomography scan and magnetic resonance imaging revealed normal findings. Right sided cochlear implantation was done at the age of 3 years old and he is still under audiology follow-up. Conclusion: Genetic studies are important to determine the cause of genetic mutation in susceptibility to hearing impairment that run in his family after severe neonatal jaundice. Those baby with risk of developing hearing loss required diagnostic hearing assessment. (author)

  16. Weight loss and severe jaundice in a patient with hyperthyroidism.

    Science.gov (United States)

    Breidert, M; Offensperger, S; Blum, H E; Fischer, R

    2011-09-01

    Thyrotoxicosis may significantly alter hepatic function and is associated with autoimmune disorders of the liver. We report the case of a thyrotoxic patient with Graves' disease and histologically established cholestatic hepatitis. Medical treatment of hyperthyroidism normalized liver function tests. In patients with elevated liver function parameters and jaundice of unknown origin, thyroid function should generally be tested. Moreover, medical treatment of hyperthyroidism with thyrostatics may cause severe hepatitis whereas untreated hyperthyroid patients are at risk of developing chronic liver failure. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Hormonal Treatment for Severe Hydronephrosis Caused by Bladder Endometriosis

    Directory of Open Access Journals (Sweden)

    Erkan Efe

    2014-01-01

    Full Text Available The incidence of endometriosis cases involving the urinary system has recently increased, and the bladder is a specific zone where endometriosis is most commonly seen in the urinary system. In the case presented here, a patient presented to the emergency department with the complaint of side pain and was examined and diagnosed with severe hydronephrosis and bladder endometriosis was determined in the etiology. After the patient was pathologically diagnosed, Levonorgestrel-Releasing Intrauterine System (LNG-IUS was administered to the uterine cavity. At the 12-month follow-up, endometriosis was not observed in the cystoscopy and symptoms had completely regressed. Hydronephrosis may be observed after exposure of the ureter, and silent renal function loss may develop in patients suffering from endometriosis with bladder involvement. For patients with moderate or severe hydronephrosis associated with bladder endometriosis, LNG-IUS application may be separately and successfully used after conservative surgery.

  18. [Rare cause for severe hypertriglyceridemia - case 9/2013].

    Science.gov (United States)

    Kahl, Sabine; Roden, Michael; Mörike, Klaus; Müssig, Karsten

    2013-11-01

    We report on a 48-year-old female patient with recently developed severe hypertriglyceridemia. Medical history was remarkable for breast cancer with breast-preserving surgery and chemoradiotherapy. The patient has been treated with 20 mg tamoxifen per day for three months. Laboratory results showed hypertriglyeridemia, hypercholesterolemia and lowered HDL-cholesterol. Findings were consistent with a drug-induced hypertriglyceridemia caused by anti-estrogenic therapy with tamoxifen. After consulting the patient's gynaecologist, we discontinued tamoxifen treatment. Thereupon, triglyceride levels fell consistently. There were no signs of pancreatitis, serum amylase and lipase were in the normal range. Patients with pre-diagnosed metabolic disorders, especially dyslipidemia and type 2 diabetes, should undergo regular controls of serum triglycerides during tamoxifen treatment. Also, one should keep in mind that a subacute, severe rise in serum triglyceride levels may be caused, in rare cases, by tamoxifen treatment. © Georg Thieme Verlag KG Stuttgart · New York.

  19. Technetium-99m DMSA preparation: Trivial issues causing severe problems

    International Nuclear Information System (INIS)

    Kumar, V.

    1997-01-01

    Urinary tract infection (UTI) in children involving renal parenchyma, upper collecting system or bladder is one of the major causes for consideration in the diagnosis and management of paediatric nuclear medicine. Acute pyelonephritis is one of the prime causes of morbidity associated with urinary tract infection in children which can lead to progressive renal damage. Technetium-99m dimercaptosuccinic acid (DMSA) is used extensively for the assessment of UTI in paediatrics. The radiopharmaceutical preparation could be influenced by several factors, most of them are trivial, but invariably have severe impact on the quality of the scintiphotographs. This communication is mainly to highlight some of the issues related to 99 mTc-DMSA preparation and the possible precautionary measures that need to be taken to obviate unwarranted problems. (author)

  20. Group points to underlying causes of ecosystem, blodiversity loss

    Science.gov (United States)

    Showstack, Randy

    Freshwater diversion, urban water pollution,and overfishing are leading to the decline of some of Pakistan's coastal mangrove ecosystems. In Mexico's Calakmul Biosphere Reserve, near the border of Guatemala, population growth and poverty are pushing forest clearing. Meanwhile, in Chilika Lake in southeast India, changes in economic policies and global markets have led to changes in commercial aquaculture that is partly responsible for the decline of local fisheries and the bird population.These are the conclusions of some of the 10 case studies contained in a World Wildlife Fund (WWF) report, issued on July 6, that examines forests, wetlands, steppes, mangroves, and other habitats to determine the underlying causes for biodiversity loss.

  1. Another cause for conductive hearing loss with present acoustic reflexes.

    Science.gov (United States)

    Ebert, Charles S; Zanation, Adam M; Buchman, Craig A

    2008-11-01

    There are numerous potential causes of conductive hearing loss (HL). It is important to obtain a thorough history and perform a complete examination, including audiometric testing and radiographic evaluation when necessary. In this report, we present a patient with an intact tympanic membrane, no history of ear disease or trauma who as an adult developed progressive, conductive HL because of an anomalous course of a dehiscent facial nerve. In the patient with a conductive HL and at least partially intact reflexes, superior semicircular canal dehiscence, fracture of the stapes superstructure proximal to the tendon, other third window phenomena, and now dehiscence of the facial nerve resulting in decreased mobility of the ossicular chain must be considered.

  2. [Severe Eyeball and Facial Skeletal Injuries Caused by Firefighting Sport].

    Science.gov (United States)

    Rusňák, Š; Maranová, Z; Kasl, Z; Hecová, L; Voigt, E; Raiskup, F

    2017-07-01

    The aim of this work is to draw attention to possible injuries of the eye and the facial skeleton caused by firefighting sport. There was a group of 9 patients presented who were treated from 2006 to 2015 in the Department of Ophthalmology at the University Hospital in Pilsen and diagnosed with severe eyeball contusion after being hit by a jet of water and/or a water pipe. Three cases are presented in detail. Georg Thieme Verlag KG Stuttgart · New York.

  3. Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.

    Science.gov (United States)

    Ueki, Yumi; Ramirez, Grisela; Salcedo, Ernesto; Stabio, Maureen E; Lefcort, Frances

    2016-01-01

    Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein ( IKBKAP ). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina, we generated Ikbkap conditional knockout (CKO) mice using a TUBA1a promoter-Cre ( Tα1-Cre ). In the retina, Tα1-Cre expression is detected predominantly in retinal ganglion cells (RGCs). At 6 months, significant loss of RGCs had occurred in the CKO retinas, with the greatest loss in the temporal retina, which is the same spatial phenotype observed in FD, Leber hereditary optic neuropathy, and dominant optic atrophy. Interestingly, the melanopsin-positive RGCs were resistant to degeneration. By 9 months, signs of photoreceptor degeneration were observed, which later progressed to panretinal degeneration, including RGC and photoreceptor loss, optic nerve thinning, Müller glial activation, and disruption of layers. Taking these results together, we conclude that although Ikbkap is not required for normal development of RGCs, its loss causes a slow, progressive RGC degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization. This mouse model of FD is not only useful for identifying the mechanisms mediating retinal degeneration, but also provides a model system in which to attempt to test therapeutics that may mitigate the loss of vision in FD patients.

  4. The severity of temporomandibular joint disorder by teeth loss in the elderly

    Directory of Open Access Journals (Sweden)

    Indry Herdiyani

    2011-07-01

    Full Text Available Temporomandibular joint dysfunction is a term that covers a number of clinical problems that involves masticatory muscles, temporomandibular joints, and related structures, or both. Loss of tooth was an etiology of temporomandibular joint dysfunction. The purpose of this study was to obtain the description of temporomandibular joint dysfunction level that caused by tooth loss of elderly in three nursing home Bandung. This was a descriptive study using the survey method of the elderly in three nursing home Bandung. A total of 34 people consist 6 males and 28 females. The subjects were examined by symptoms of temporomandibular joint dysfunction and the dysfunction level was assessed by Helkimo Clinical Dysfunction Index. The result of this study shows that elderly in Nursing Home Bandung have mild dysfunction level was 7 (14.71%, moderate dysfunction level was 22 (64.71%, and severe dysfunction level is 5 (20.58%. It can be concluded that loss of the teeth is one of the etiologies of temporomandibular joint disorder. Based on the research conducted, it can be concluded that all elderly with teeth loss will have the temporomandibular joint disorder and the most severity happens based on teeth loss by using the Helkimo Clinical Disfunction Index score was the moderate disorder.

  5. Surgical correction of severe enophthalmos caused by bullet injury

    Directory of Open Access Journals (Sweden)

    S M Balaji

    2016-01-01

    Full Text Available Ballistic injuries of oral and maxillofacial region are usually fatal due to close propinquity with the vital structures. The severity of injury depends on the caliber of the weapon used and distance from which the patient is shot. The preliminary care of facial ballistic wounds strictly adheres to the basics of trauma resuscitation. Early and appropriate surgical management has proved to be influential on the final outcome and esthetic result. Treatment of facial gunshot wounds should be planned and carried out carefully to avoid esthetic complications. It takes even multiple-staged corrections to achieve the targeted functional and esthetic treatment plan. Prevention and control of infection is one of the most important goals to achieve the success of the treatment. Herewith, we present a case of facial gunshot injury with fractures in the orbital floor, medial wall maxillary sinus, and buttress of the zygomatic bone causing deficit, which was successfully managed by surgical reconstruction.

  6. Severe Hand Injuries Caused by a Mole Gun

    Directory of Open Access Journals (Sweden)

    Serdar Düzgün

    2017-10-01

    Full Text Available Objective: Injuries by mole guns differ from other firearm injuries primarily because they are close-range, low-energy injuries that are highly contaminated owing to contact with contaminated surfaces and the presence of numerous residual foreign bodies within the wound. The aim of this article is to share our surgical experience regarding the repair of severe hand injuries caused by mole guns. Material and Methods: This retrospective study included 11 patients with hand injuries. Data obtained about the patients, including age, gender, dominant or non-dominant hand, injuries to all vital structures, and reconstructive procedures were assessed, categorized, and recorded. Results: Ten patients had defects in one or several common digital branches of the median nerve in areas ranging from the distal part of the carpal tunnel to the distal palmar crease. All patients had flexor and extensor tendon injuries in all fingers except for the first finger. Reconstruction of soft tissue and skin defects was carried out with an interpolation flap planned from a random-based subpectoral- paraumbilical region in five patients, a SCIA-based groin flap in four patients, a reverse-radial forearm flap in one patient, and an adipofascial flap planned from the forearm in one patient. Conclusion: Mole gun injuries typically include all structures of the hand, and repair procedures involve every anatomic structure of the hand. An early and effective surgical operation followed by prolonged and effective physical therapy protocols is vital for regaining the full spectrum of hand functions.

  7. Effect of weight loss on the severity of psoriasis

    DEFF Research Database (Denmark)

    Jensen, P; Zachariae, Claus; Christensen, R

    2013-01-01

    Psoriasis is associated with adiposity and weight gain increases the severity of psoriasis and the risk of incident psoriasis. Therefore, we aimed to measure the effect of weight reduction on the severity of psoriasis in obese patients with psoriasis.......Psoriasis is associated with adiposity and weight gain increases the severity of psoriasis and the risk of incident psoriasis. Therefore, we aimed to measure the effect of weight reduction on the severity of psoriasis in obese patients with psoriasis....

  8. Trends and causes of historical wetland loss in coastal Louisiana

    Science.gov (United States)

    Bernier, Julie

    2013-01-01

    Wetland losses in the northern Gulf Coast region of the United States are so extensive that they represent critical concerns to government environmental agencies and natural resource managers. In Louisiana, almost 3,000 square kilometers (km2) of low-lying wetlands converted to open water between 1956 and 2004, and billions of dollars in State and Federal funding have been allocated for coastal restoration projects intended to compensate for some of those wetland losses. Recent research at the St. Petersburg Coastal and Marine Science Center (SPCMSC) focused on understanding the physical processes and human activities that contributed to historical wetland loss in coastal Louisiana and the spatial and temporal trends of that loss. The physical processes (land-surface subsidence and sediment erosion) responsible for historical wetland loss were quantified by comparing marsh-surface elevations, water depths, and vertical displacements of stratigraphic contacts at 10 study areas in the Mississippi River delta plain and 6 sites at Sabine National Wildlife Refuge (SNWR) in the western chenier plain. The timing and extent of land loss at the study areas was determined by comparing historical maps, aerial photographs, and satellite imagery; the temporal and spatial trends of those losses were compared with historical subsidence rates and hydrocarbon production trends.

  9. Clinical and experimental studies on the sensorineural hearing loss caused by irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Yamamoto, M [Kobe Univ. (Japan). School of Medicine

    1979-08-01

    In our study, 43 patients whose ears were presumably irradiated, were examined periodically before and after the irradiation; 10 were found to be affected by the sensorineural hearing loss, and these 10 were classified into two types. Type I; Patients of this group had a hearing impairment during or soon after irradiation and usually revealed marked deterioration of bone conduction in high frequencies accompanied by worsening of air conduction in low frequencies. The impaired hearing of this group soon recovered to the pre-treatment level. Type II; Patients of this group developed a slow progressive sensorineural hearing loss. They noticed the deafness with tinnitus several months after irradiation. To clarify the mechanism of the sensorineural hearing loss, histopathological investigations were done using nembutal anesthetized guinea pigs which were irradiated in the confined ear region unilaterally. We also examined histopathologically one human temporal bone belonging to a patient who had been irradiated for middle ear carcinoma. The histopathology of the guinea pigs and human case revealed the following conclusions: Type I hearing loss may be caused by toxic labyrinthitis secondary to the radiation otitis media or by the aseptic labyrinthitis as the result of hyperemia and increased permeability of the irradiated blood vessels in the cochlea. Type II hearing loss may be caused by the late rediation response of the cochleal blood vessels i.e. by the vasculitis which gives rise to obliteration of the vascular lumen and affects the blood supply of the hair cells.

  10. Clinical and experimental studies on the sensorineural hearing loss caused by irradiation

    International Nuclear Information System (INIS)

    Yamamoto, Matsunori

    1979-01-01

    In our study, 43 patients whose ears were presumably irradiated, were examined periodically before and after the irradiation; 10 were found to be affected by the sensorineural hearing loss, and these 10 were classified into two types. Type I; Patients of this group had a hearing impairment during or soon after irradiation and usually revealed marked deterioration of bone conduction in high frequencies accompanied by worsening of air conduction in low frequencies. The impaired hearing of this group soon recovered to the pre-treatment level. Type II; Patients of this group developed a slow progressive sensorineural hearing loss. They noticed the deafness with tinnitus several months after irradiation. To clarify the mechanism of the sensorineural hearing loss, histopathological investigations were done using nembutal anesthetized guinea pigs which were irradiated in the confined ear region unilaterally. We also examined histopathologically one human temporal bone belonging to a patient who had been irradiated for middle ear carcinoma. The histopathology of the guinea pigs and human case revealed the following conclusions: Type I hearing loss may be caused by toxic labyrinthitis secondary to the radiation otitis media or by the aseptic labyrinthitis as the result of hyperemia and increased permeability of the irradiated blood vessels in the cochlea. Type II hearing loss may be caused by the late rediation response of the cochleal blood vessels i.e. by the vasculitis which gives rise to obliteration of the vascular lumen and affects the blood supply of the hair cells. (author)

  11. Severe hemorrhage from the umbilical cord at birth: a preventable cause of neonatal shock.

    Science.gov (United States)

    Singh, Neetu; Suresh, Gautham

    2013-01-01

    Posthemorrhagic anemia is a rare but important cause of anemia in neonates, second only to hemolytic anemia of newborn. Most cases of posthemorrhagic anemia are reported from fetomaternal hemorrhage or umbilical cord accidents in utero. This case report describes a preterm infant who developed severe anemia and shock immediately after delivery related to an acute hemorrhage through patent umbilical cord vessels secondary to a tear in the umbilical cord at the site of cord clamping. We believe that umbilical cord bleeding from errors in cord clamping could be an important cause of acute blood loss in the delivery room and that it may result in significant clinical morbidity, especially in extremely premature infants.

  12. Sleep Loss in Resident Physicians: The Cause of Medical Errors?

    Directory of Open Access Journals (Sweden)

    Milton eKramer

    2010-10-01

    Full Text Available This review begins with the history of the events starting with the death of Libby Zion that lead to the Bell Commission, that the studied her death and made recommendations for improvement that were codified into law in New York state as the 405 law that the ACGME essentially adopted in putting a cap on work hours and establishing the level of staff supervision that must be available to residents in clinical situations particularly the emergency room and acute care units. A summary is then provided of the findings of the laboratory effects of total sleep deprivation including acute total sleep loss and the consequent widespread physiologic alterations, and of the effects of selective and chronic sleep loss. Generally the sequence of responses to increasing sleep loss goes from mood changes to cognitive effects to performance deficits. In the laboratory situation, deficits resulting from sleep deprivation are clearly and definitively demonstrable. Sleep loss in the clinical situation is usually sleep deprivation superimposed on chronic sleep loss. An examination of questionnaire studies, the literature on reports of sleep loss, studies of the reduction of work hours on performance as well as observational and a few interventional studies have yielded contradictory and often equivocal results. The residents generally find they feel better working fewer hours but improvements in patient care are often not reported or do not occur. A change in the attitude of the resident toward his role and his patient has not been salutary. Decreasing sleep loss should have had a positive effect on patient care in reducing medical error, but this remains to be unequivocally demonstrated.

  13. A "high severity" spruce beetle outbreak in Wyoming causes moderate-severity carbon cycle perturbations

    Science.gov (United States)

    Berryman, E.; Frank, J. M.; Speckman, H. N.; Bradford, J. B.; Ryan, M. G.; Massman, W. J.; Hawbaker, T. J.

    2017-12-01

    Bark beetle outbreaks in Western North American forests are often considered a high-severity disturbance from a carbon (C) cycling perspective, but field measurements that quantify impacts on C dynamics are very limited. Often, factors out of the researcher's control complicate the separation of beetle impacts from other drivers of C cycling variability and restrict statistical inference. Fortuitously, we had four years of pre-spruce beetle outbreak C cycle measurements in a subalpine forest in southeastern Wyoming (Glacier Lakes Ecosystem Experiments Site, or GLEES) and sustained intermittent monitoring for nearly a decade after the outbreak. Here, we synthesize published and unpublished pre- and post-outbreak measurements of key C cycle stocks and fluxes at GLEES. Multiple lines of evidence, including chamber measurements, eddy covariance measurements, and tracking of soil and forest floor C pools over time, point to the GLEES outbreak as a moderate-severity disturbance for C loss to the atmosphere, despite 70% to 80% of overstory tree death. Reductions in NEE were short-lived and the forest quickly returned to a carbon-neutral state, likely driven by an uptick in understory growth. Effect of mortality on the C cycle was asymmetrical, with a 50% reduction in net carbon uptake (NEE) two years into the outbreak, yet no measureable change in either ecosystem or growing season soil respiration. A small pulse in soil respiration occurred but was only detectable during the winter and amounted to < 10% of NEE. Possible reasons for the lack of measureable respiration response are discussed with emphasis on lessons learned for monitoring and modeling future outbreaks. We suggest a comprehensive assessment and definition of "moderate-severity" disturbances for Western forests and suggest that all tree mortality events may not be high-severity when it comes to C fluxes.

  14. Factors influencing to earthquake caused economical losses on urban territories

    Science.gov (United States)

    Nurtaev, B.; Khakimov, S.

    2005-12-01

    Questions of assessment of earthquake economical losses on urban territories of Uzbekistan, taking into account damage forming factors, which are increqasing or reducing economical losses were discussed in the paper. Buildings and facilities vulnerability factors were classified. From total value (equal to 50) were selected most important ones. Factors ranging by level of impact and weight function in loss assessment were ranged. One group of damage forming factors includs seismic hazard assessment, design, construction and maintenance of building and facilities. Other one is formed by city planning characteristics and includes : density of constructions and population, area of soft soils, existence of liquefaction susceptible soils and etc. To all these factors has been given weight functions and interval values by groups. Methodical recomendations for loss asessment taking into account above mentioned factors were developed. It gives possibility to carry out preventive measures for protection of vulnerable territories, to differentiate cost assessment of each region in relation with territory peculiarity and damage value. Using developed method we have ranged cities by risk level. It has allowed to establish ratings of the general vulnerability of urban territories of cities and on their basis to make optimum decisions, oriented to loss mitigation and increase of safety of population. Besides the technique can be used by insurance companies for estimated zoning of territory, development of effective utilization schema of land resources, rational town-planning, an economic estimation of used territory for supply with information of the various works connected to an estimation of seismic hazard. Further improvement of technique of establishment of rating of cities by level of damage from earthquakes will allow to increase quality of construction, rationality of accommodation of buildings, will be an economic stimulator for increasing of seismic resistance of

  15. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

    NARCIS (Netherlands)

    Jonkman, MF; Pasmooij, AMG; Pasmans, SGMA; van den Berg, MP; ter Horst, HJ; Timmer, A; Pas, HH

    2005-01-01

    The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma,

  16. The judged seriousness of an environmental loss is a matter of what caused it

    Science.gov (United States)

    Thomas C. Brown; George L. Peterson; R. Marc Brodersen; Valerie Ford; Paul A. Bell

    2005-01-01

    Environmental losses, each described along with its cause, were judged for seriousness. Four types of cause were studied: illegal behavior, carelessness, economic and population growth, and natural events. Identical environmental losses (e.g., of a herd of elk or a large stand of trees) were considered most serious when caused by illegal behavior or carelessness, and...

  17. [Acute visual loss in pregnancy caused by craniopharyngioma].

    Science.gov (United States)

    Grillo-Mallo, E; Jiménez-Benito, J; Diéz-Feijóo, E; Alonso Alonso, I; Ferrero Collado, A; Muñoz Quiñones, S

    2014-04-01

    A 38-year-old female, at 20-weeks gestation, experienced a sudden visual loss and visual-field abnormalities. The neuroimaging tests showed a craniopharyngioma. Surgical removal was performed with a successful outcome as regards the pregnancy and visual function. It is known that pituitary adenomas may grow during pregnancy; however this is unusual in craniopharyngiomas. They usually present with visual problems due to their suprasellar topography. Surgery is the treatment of choice, the outcome essentially depending on its complete resection. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  18. [Severe hypertriglyceridemia--an important cause of pancreatitis].

    Science.gov (United States)

    Graesdal, Asgeir

    2008-05-01

    Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and serious hypertriglyceridaemia, with triglyceride values above 10 mmol/L, increases the risk of pancreatitis. Gallstones and alcohol abuse are regarded as the two most important causes of acute pancreatitis, but the considerable risk posed by hypertriglyceridaemia has probably been underrated. It is therefore crucial to acquire updated knowledge and awareness of the fact that high levels of triglycerides can cause pancreatitis. This article is based on current literature retrieved though a search on the topic and clinical experience. Serious hypertriglyceridaemia is a relatively rare condition and its usual cause is genetic predisposition combined with obesity, diabetes or alcohol abuse. Certain types of medication, as well as pregnancy, are also well known causes. Current literature suggests that hypertriglyceridaemia is the cause of pancreatitis in 1-38% of the cases--a substantial variation. The condition is often accompanied by low amylase values and may therefore be underrated as a cause. Our case reports illustrate that the etiology is complex. Plasmapheresis or LDL-apheresis may be indicated when conservative treatment proves insufficient.

  19. Blackleg (Leptosphaeria maculans) Severity and Yield Loss in Canola in Alberta, Canada

    Science.gov (United States)

    Hwang, Sheau-Fang; Strelkov, Stephen E.; Peng, Gary; Ahmed, Hafiz; Zhou, Qixing; Turnbull, George

    2016-01-01

    Blackleg, caused by Leptosphaeria maculans, is an important disease of oilseed rape (Brassica napus L.) in Canada and throughout the world. Severe epidemics of blackleg can result in significant yield losses. Understanding disease-yield relationships is a prerequisite for measuring the agronomic efficacy and economic benefits of control methods. Field experiments were conducted in 2013, 2014, and 2015 to determine the relationship between blackleg disease severity and yield in a susceptible cultivar and in moderately resistant to resistant canola hybrids. Disease severity was lower, and seed yield was 120%–128% greater, in the moderately resistant to resistant hybrids compared with the susceptible cultivar. Regression analysis showed that pod number and seed yield declined linearly as blackleg severity increased. Seed yield per plant decreased by 1.8 g for each unit increase in disease severity, corresponding to a decline in yield of 17.2% for each unit increase in disease severity. Pyraclostrobin fungicide reduced disease severity in all site-years and increased yield. These results show that the reduction of blackleg in canola crops substantially improves yields. PMID:27447676

  20. Blackleg (Leptosphaeria maculans Severity and Yield Loss in Canola in Alberta, Canada

    Directory of Open Access Journals (Sweden)

    Sheau-Fang Hwang

    2016-07-01

    Full Text Available Blackleg, caused by Leptosphaeria maculans, is an important disease of oilseed rape (Brassica napus L. in Canada and throughout the world. Severe epidemics of blackleg can result in significant yield losses. Understanding disease-yield relationships is a prerequisite for measuring the agronomic efficacy and economic benefits of control methods. Field experiments were conducted in 2013, 2014, and 2015 to determine the relationship between blackleg disease severity and yield in a susceptible cultivar and in moderately resistant to resistant canola hybrids. Disease severity was lower, and seed yield was 120%–128% greater, in the moderately resistant to resistant hybrids compared with the susceptible cultivar. Regression analysis showed that pod number and seed yield declined linearly as blackleg severity increased. Seed yield per plant decreased by 1.8 g for each unit increase in disease severity, corresponding to a decline in yield of 17.2% for each unit increase in disease severity. Pyraclostrobin fungicide reduced disease severity in all site-years and increased yield. These results show that the reduction of blackleg in canola crops substantially improves yields.

  1. Loss of binocular vision as direct cause for misrouting of temporal retinal fibers in albinism.

    Science.gov (United States)

    Banihani, Saleh M

    2015-10-01

    In humans, the nasal retina projects to the contralateral hemisphere, whereas the temporal retina projects ipsilaterally. The nasotemporal line that divides the retina into crossed and uncrossed parts coincides with the vertical meridian through the fovea. This normal projection of the retina is severely altered in albinism, in which the nasotemporal line shifted into the temporal retina with temporal retinal fibers cross the midline at the optic chiasm. This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. It is supported by many observations that clearly indicate that loss of binocular vision causes uncrossed retinal fibers to cross the midline. This hypothesis may alert scientists and clinicians to find ways to prevent or minimize the loss of binocular vision that may occur in some diseases such as albinism and early squint. Hopefully, this will minimize the misrouting of temporal fibers and improve vision in such diseases. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. A statistical study of GPS loss of lock caused by ionospheric disturbances

    Science.gov (United States)

    Tsugawa, T.; Nishioka, M.; Otsuka, Y.; Saito, A.; Kato, H.; Kubota, M.; Nagatsuma, T.; Murata, K. T.

    2010-12-01

    Two-dimensional total electron content (TEC) maps have been derived from ground-based GPS receiver networks and applied to studies of various ionospheric disturbances since mid-1990s. For the purpose of monitoring and researching ionospheric disturbances which can degrade GNSS navigations and cause loss-of-lock on GNSS signals, National Institute of Information and Communications Technology (NICT), Japan has developed TEC maps over Japan using the dense GPS network, GEONET, which consists of more than 1,200 GPS receivers and is operated by Geophysical Survey Institute, Japan. Currently, we are providing two-dimensional maps of absolute TEC, detrended TEC with 60, 30, 15-minute window, rate of TEC change index (ROTI), and loss-of-lock (LOL) on GPS signal over Japan. These data and quick-look maps since 1997 are archived and available in the website of NICT (http://wdc.nict.go.jp/IONO/). Recently developed GPS receiver networks in North America and Europe make it possible to obtain regional TEC maps with higher spatial and temporal resolution than the global weighted mean TEC maps in the IONEX format provided by several institutes such as International GNSS Service (IGS) and another global TEC map provided by MIT Haystack observatory. Recently, we have also developed the regional TEC maps over North America and Europe. These data and quick-look maps are also available in the NICT website. In this presentation, we will show some severe ionospheric events such as high latitude storm-time plasma bubbles and storm enhanced density events observed over Japan using the GPS-TEC database. These events cause loss-of-lock of GPS signals and large GPS positioning errors. We also discuss about the statistical characteristics of LOL on the GPS signal caused by ionospheric disturbances.

  3. Megadolicho basilar artery as a cause of asymmetrical sensorineural hearing loss - case report

    Directory of Open Access Journals (Sweden)

    Melo, Antonio Antunes

    2011-07-01

    Full Text Available Introduction: At the differentiated diagnosis of asymmetrical sensorineural hearing losses, vascular disorders are present, one of which is megadolicho basilar artery. This disease is generally asymptomatic, and when symptoms are found, they can be caused by a compression or ischemia. Clinically, sensorineural hearing loss, tinnitus, headache, facial hypoesthesia, trigeminal neuralgia, vertigo, diplopia and facial palsy, among others, are likely to occur. The image examination of choice for its diagnosis is nuclear magnetic resonance. The megadolicho basilar artery therapy can be surgical or conservative, according to the associated findings. A multidisciplinary approach, including a neurologist, neurosurgeon and an otorhinolaryngologist is recommended for a proper administration of the case. Objective: Report the case of a patient with asymmetrical sensorineural hearing loss, diagnosed of megadolicho basilar artery. Case report: JBS, 57-year-old white male with a history of asymmetrical sensorineural hearing loss and bilateral whistle-like tinnitus for several years. The otorhinolaryngologic evaluation, including otoscopy, anterior rhinoscopy and oral pharynx, was normal. Final Comments: The treatment consisted in following up with the patient, controlling the tinnitus by drugs and using an individual sound amplification apparatus on the left ear.

  4. Defective immuno- and thymoproteasome assembly causes severe immunodeficiency

    DEFF Research Database (Denmark)

    Treise, Irina; Huber, Eva M.; Klein-Rodewald, Tanja

    2018-01-01

    By N-ethyl-N-nitrosourea (ENU) mutagenesis, we generated the mutant mouse line TUB6 that is characterised by severe combined immunodeficiency (SCID) and systemic sterile autoinflammation in homozygotes, and a selective T cell defect in heterozygotes. The causative missense point mutation results...

  5. Cause of Death and the Quest for Meaning after the Loss of a Child

    Science.gov (United States)

    Lichtenthal, Wendy G.; Neimeyer, Robert A.; Currier, Joseph M.; Roberts, Kailey; Jordan, Nancy

    2013-01-01

    This study examined patterns of making meaning among 155 parents whose children died from a variety of violent and non-violent causes. Findings indicated 53% of violent loss survivors could not make sense of their loss, as compared to 32% of non-violent loss survivors. Overall, there was overlap in sense-making strategies across different causes…

  6. Causes of several accidents in gamma radiography testing units

    International Nuclear Information System (INIS)

    Vykrocil, L.

    1979-01-01

    Three cases are described of radiation accidents in gamma flaw-detection work-places in the West Bohemian Region. The causes of the accidents stemmed from the unsatisfactory technical condition of the materials testing equipment used and nonobservance of regulations for work with radioactive sourr.es. It is necessary for precluding similar accident to improve preventive care of gamma flaw-detection equipment and to educate personnel who would be considered for coping with the situation when control over the radiation source is lost. (Ha)

  7. Permanent make-up colorants may cause severe skin reactions.

    Science.gov (United States)

    Wenzel, Sabrina M; Welzel, Julia; Hafner, Christian; Landthaler, Michael; Bäumler, Wolfgang

    2010-10-01

    In recent years, cosmetic tattoos [permanent make-up (PMU)] on eyelids, eyebrows and lips have become increasingly popular. However, most colorants are manufactured for non-medical purposes, without any established history of safe use in humans. To investigate severe adverse reactions, such as swelling, burning, and the development of papules, of the lips and the surrounding area in 4 patients who had had at least two PMU procedures on their lips. Adverse skin reactions were examined with patch and prick testing of the colorants. In addition, skin biopsies were taken in the centre of the prick test for histology. One patient declined prick testing. Beauticians tended to use various PMU products, but all contained Pigment Red 181 (CI 73360). All patients tested showed a clear delayed reaction to Pigment Red 181 or the tattoo ink, or both, after prick testing. Histology indicated an allergic reaction. Each lip lesion slowly abated after several months of topical or systemic therapy with steroids in combination with tacrolimus, but none has yet completely resolved. In light of the severe and often therapy-resistant skin reactions, we strongly recommend the regulation and control of the substances used in PMU colorants. © 2010 John Wiley & Sons A/S.

  8. Vitreous loss-causes, associations, and outcomes: Eight-year analysis in Melaka Hospital

    Directory of Open Access Journals (Sweden)

    Thanigasalam Thevi

    2018-01-01

    CONCLUSION: Vitreous loss occurred in almost all types of cataract surgeries, especially by junior surgeons, among those aged <40 years and significantly caused poor visual outcome compared to other complications. Pseudoexfoliation had higher occurrence of vitreous loss. Vitreous loss patients had impaired/poor visual outcome due to preexisting comorbidity and astigmatism. Patients at risk and junior surgeons should be closely monitored to improve outcomes. Further studies need to be done to see why and when the vitreous loss occurred.

  9. Severe Hemorrhage from the Umbilical Cord at Birth: A Preventable Cause of Neonatal Shock

    Directory of Open Access Journals (Sweden)

    Neetu Singh

    2013-01-01

    Full Text Available Posthemorrhagic anemia is a rare but important cause of anemia in neonates, second only to hemolytic anemia of newborn. Most cases of posthemorrhagic anemia are reported from fetomaternal hemorrhage or umbilical cord accidents in utero. This case report describes a preterm infant who developed severe anemia and shock immediately after delivery related to an acute hemorrhage through patent umbilical cord vessels secondary to a tear in the umbilical cord at the site of cord clamping. We believe that umbilical cord bleeding from errors in cord clamping could be an important cause of acute blood loss in the delivery room and that it may result in significant clinical morbidity, especially in extremely premature infants.

  10. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

    Science.gov (United States)

    Walne, Amanda J; Vulliamy, Tom; Kirwan, Michael; Plagnol, Vincent; Dokal, Inderjeet

    2013-03-07

    Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS. Additional screening of RTEL1 identified biallelic mutations in 6/23 index cases with HHS but none in 102 DC or DC-like cases. All 11 mutations in ten HHS individuals from seven families segregated in an autosomal-recessive manner, and telomere lengths were significantly shorter in cases than in controls (p = 0.0003). This group had significantly higher levels of telomeric circles, produced as a consequence of incorrect processing of telomere ends, than did controls (p = 0.0148). These biallelic RTEL1 mutations are responsible for a major subgroup (∼29%) of HHS. Our studies show that cells harboring these mutations have significant defects in telomere maintenance, but not in homologous recombination, and that incorrect resolution of T-loops is a mechanism for telomere shortening and disease causation in humans. They also demonstrate the severe multisystem consequences of its dysfunction. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  11. A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, Dorte Launholt; Jensen, Peter Kjestrup Axel

    2014-08-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. © 2014 Wiley Periodicals, Inc.

  12. First report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) causing severe disease in Allomyrina dichotoma in Korea.

    Science.gov (United States)

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6 wk. This viral disease spreads very fast in several locations throughout Korea. This threat not only makes economic loss of local farms rearing A. dichotoma larvae but also may disturb the ecosystem by transmitting to wild A. dichotoma. © The Author 2015. Published by Oxford University Press on behalf of the Entomological Society of America.

  13. Neurogenic vision loss: Causes and outcome. An experience from a tertiary center in Northern India

    Directory of Open Access Journals (Sweden)

    Rajesh Verma

    2014-01-01

    Full Text Available Introduction: Vision loss can be a consequence of numerous disorders of eye and neural pathway conveying visual input to brain. A variety of conditions can affect visual pathway producing neurogenic vision loss. The presentation and course of vision loss depends on the site of involvement and underlying etiology. We conducted this unprecedented study to evaluate the characteristics and outcome of various diseases of the visual pathway. Materials and Methods: In this prospective cohort study, we evaluated 64 patients with neurogenic visual impairment. Ophthalmological causes were excluded in all of them. Their presentation, ophthalmological characteristics and investigation findings were recorded. These patients were followed up till 6 months. Results: Out of 69 patients evaluated, 5 were excluded as they had ophthalmological abnormalities. The remaining 64 cases (113 eyes were enrolled. 54 cases were due to diseases of anterior visual pathway and rest 10 had cortical vision loss. The etiologic distribution is as follows: Isolated optic neuritis- 12 (19%, multiple sclerosis- 4 (6.3%, neuromyelitis optica- 5 (7.9%, tubercular meningitis- 15 (23.8%, non-arteritic ischemic optic neuropathy, ischemic optic neuropathy complicating cavernous sinus thrombosis, cryptococcal meningitis, malignant infiltration of optic nerve, Crouzon′s syndrome, calvarial thickening and traumatic occipital gliosis- 1 (1.6% case each, idiopathic intracranial hypertension, pituitary adenoma, acute disseminated encephalomyelitis, posterior reversible leukoencephalopathy- 3 (4.8% cases each, cortical venous thrombosis 5 (7.9%, subacute scleroing panencephalitis- 4 (6.3% cases. Conclusions: The diseases of anterior visual pathway were much more common than cortical vision loss. A majority of our patients had severe impairment of vision at presentation.

  14. Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.

    Science.gov (United States)

    Murphy, Heidi; Patrick, Jessica; Báez-Irizarry, Eileen; Lacassie, Yves; Gómez, Ricardo; Vargas, Alfonso; Barkemeyer, Brian; Kanotra, Sohit; Zambrano, Regina M

    2016-04-01

    Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threatening condition that presents with severe hypercalcemia, hyperparathyroidism, and osteopenia in the newborn period. Treatment of NSHPT traditionally includes hydration and bisphosphonates; however newer calcimimetic agents, such as cinacalcet, are now being utilized to prevent or delay parathyroidectomy which is technically difficult in the newborn. Medical treatment success is related to calcium sensing receptor (CaSR) genotype. We report a 4-day-old infant who presented with hyperbilirubinemia, poor feeding, weight loss, severe hypotonia and was ultimately diagnosed with NSHPT. The patient's total serum calcium level of 36.8 mg/dL (reference range: 8.5-10.4 mg/dL) is, to our knowledge, the highest ever documented in this setting. Exome data previously obtained on the infant's parents was re-analyzed demonstrating bi-parental heterozygosity for a mutation of the CASR gene: c.206G > A, and Sanger sequencing data confirmed the patient was a homozygote for the same mutation. Though a patient with the same CaSR gene mutation described here has responded to cinacalcet, our patient did not respond and required parathyroidectomy. Though this case has previously been published as a surgical case report, a full report of the medical management and underlying genetic etiology is warranted; this case underscores the importance of disclosing bi-parental heterozygosity for a gene causing severe neonatal disease particularly when treatment is available and illustrates the need for further in vitro studies of this CaSR mutation. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  15. Viral Causes of Hearing Loss: A Review for Hearing Health Professionals

    Science.gov (United States)

    Cohen, Brandon E.; Durstenfeld, Anne

    2014-01-01

    A number of viral infections can cause hearing loss. Hearing loss induced by these viruses can be congenital or acquired, unilateral or bilateral. Certain viral infections can directly damage inner ear structures, others can induce inflammatory responses which then cause this damage, and still others can increase susceptibility or bacterial or fungal infection, leading to hearing loss. Typically, virus-induced hearing loss is sensorineural, although conductive and mixed hearing losses can be seen following infection with certain viruses. Occasionally, recovery of hearing after these infections can occur spontaneously. Most importantly, some of these viral infections can be prevented or treated. For many of these viruses, guidelines for their treatment or prevention have recently been revised. In this review, we outline many of the viruses that cause hearing loss, their epidemiology, course, prevention, and treatment. PMID:25080364

  16. Prediction of yield losses in wheat (triticum aestivum l.) caused by yellow rust in relation to epidemiological factors in Faisalabad

    International Nuclear Information System (INIS)

    Ahmad, S.; Afzal, M.; Noorka, I.R.; Iqbal, Z.; Akhtar, N.; Iiftikhar, Y.; Kamran, M.

    2010-01-01

    Thirty six genotypes were screened against yellow rust to check their level of susceptibility or resistance. Among 36 genotypes screened against yellow rust, 18 were susceptible, 6 were moderately susceptible to susceptible, 7 were moderately resistant to moderately susceptible and 5 genotypes remained resistant. Yield losses were predicted in wheat on the basis of varying level of yellow rust severities. It was observed that susceptible genotypes showed higher yield losses as compared to resistant genotypes. Maximum severity of 90% of yellow rust resulted in 54% to 55% calculated and predicted losses, respectively. While 40, 50, 60 and 70% disease severity of yellow rust caused 35-34%, 38-37%, 42-40% and 46-47% calculated and predicted losses, respectively. However, the decline in losses was observed as the genotypes changed their reaction from susceptible to moderate susceptible. Similarly, losses were diminished as the varieties/lines showed moderate resistant reaction from moderate susceptible. Minimum temperature and relative humidity remained positively correlated while the maximum temperature showed negative correlation with stripe rust severity. With the increase of minimum temperature and relative humidity a rise up in stripe rust infection was seen while as the maximum temperature increased stripe rust infection decreased on different genotypes. It may be concluded from the study that environmental factors played major role in the spread of the disease which result in yield losses. (author)

  17. SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

    Science.gov (United States)

    Guan, Jing; Wang, Dayong; Cao, Wenjian; Zhao, Yali; Du, Renqian; Yuan, Hu; Liu, Qiong; Lan, Lan; Zong, Liang; Yang, Ju; Yin, Zifang; Han, Bing; Zhang, Feng; Wang, Qiuju

    2016-11-01

    The ossicles represent one of the most fundamental morphological features in evolutionary biology of the mammalians. The mobile ossicular morphology abnormalities result in the severe conductive hearing loss. Development and patterning of the middle ear malformation depend on genetic and environmental causes. However, the genetic basis for the risk of congenital ossicle malformation is poorly understood. We show here nine affected individuals in a Chinese pedigree who had bilateral conductive hearing loss with ptosis. We performed whole-genome sequencing and array comparative genomic hybridization (CGH) analysis on DNA samples from the Chinese pedigree. We confirmed the presence of a novel 60 kb heterozygous deletion in size, encompassing SIX2 in our family. Mutation screening in 169 sporadic cases with external ear and middle ear malformations identified no pathogenic variant or polymorphism. We suggest SIX2 haploinsufficiency as a potential congenital factor could be attributed to developmental malformation of the middle ear ossicles and upper eyelid. To the best of our knowledge, this is the first report to provide a description of copy number variation in the SIX2 gene resulting in syndromic conductive hearing loss.

  18. Profound bilateral visual loss after hysterectomy indicated for severe postpartum haemorrhage

    DEFF Research Database (Denmark)

    Ostri, Christoffer; Zibrandtsen, Nathalie; Larsen, Michael

    2014-01-01

    We present a case of a patient with bilateral posterior ischaemic optic neuropathy in the previously unreported setting of hysterectomy indicated for severe postpartum haemorrhage. The diagnosis was based on clinical and paraclinical examinations, including MRI of the head, electroretinography (ERG....... The diagnosis of perioperative posterior ischaemic optic neuropathy is mostly a clinical diagnosis. However, MRI plays a major role in excluding other causes of visual loss, and VEP, ERG and OCT are valuable supplemental diagnostic tools.......) and visual evoked potentials (VEP) testing. During 1 year of follow-up, repeated optical coherence tomography (OCT) scans demonstrated optic disc atrophy, which was interpreted as a sign of direct retrograde ganglion cell degeneration after ischaemic damage to the retrolaminar part of the optic nerves...

  19. Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

    Science.gov (United States)

    Broekaert, Ilse Julia; Becker, Kerstin; Gottschalk, Ingo; Körber, Friederike; Dötsch, Jörg; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Hünseler, Christoph; Cirak, Sebahattin

    2018-04-16

    Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. We report an infant with fatal PLE for whom we aimed to uncover the underlying pathogenic mutation. We performed whole exome sequencing (WES) for the index patient. Variants were classified based on the American College of Medical Genetics and Genomics guidelines. WES results and our detailed clinical description of the patient were compared with the literature. We discovered a novel homozygous stop mutation (c.988C>T, p.Q330*) in the Plasmalemma Vesicle-Associated Protein ( PLVAP ) gene in a newborn with fatal PLE, facial dysmorphism, and renal, ocular and cardiac anomalies. The Q330* mutation is predicted to result in complete loss of PLVAP protein expression leading to deletion of the diaphragms of endothelial fenestrae, resulting in plasma protein extravasation and PLE. Recently, another single homozygous stop mutation in PLVAP causing lethal PLE in an infant was reported. Our findings validate PLVAP mutations as a cause of syndromic PLE. Prenatal anomalies, severe PLE and syndromic features may guide the diagnosis of this rare disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. Weight loss alters severity of individual nocturnal respiratory events depending on sleeping position

    International Nuclear Information System (INIS)

    Kulkas, A; Leppänen, T; Tiihonen, P; Mervaala, E; Töyräs, J; Sahlman, J; Seppä, J; Kokkarinen, J; Randell, J; Tuomilehto, H

    2014-01-01

    Weight loss is an effective treatment for obstructive sleep apnea (OSA). The mechanisms of how weight loss affects nocturnal breathing are not fully understood. The severity of OSA is currently estimated by the number of respiratory events per hour of sleep (i.e. apnea-hypopnea-index, AHI). AHI neglects duration and morphology of individual respiratory events, which describe the severity of individual events. In the current paper, we investigate the novel Adjusted-AHI parameter (incorporating individual event severity) and AHI after weight loss in relation to sleeping position. It was hypothesised that there are positional differences in individual event severity changes during weight loss. Altogether, 32 successful (> 5% of weight) and 34 unsuccessful weight loss patients at baseline and after 1 year follow-up were analysed. The results revealed that individual respiratory event severity was reduced differently in supine and non-supine positions during weight loss. During weight loss, AHI was reduced by 54% (p = 0.004) and 74% (p < 0.001), while Adjusted-AHI was reduced by 14% (p = 0.454) and 48% (p = 0.003) in supine and non-supine positions, respectively. In conclusion, the severity of individual respiratory events decreased more in the non-supine position. The novel Adjusted-AHI parameter takes these changes into account and might therefore contribute additional information to the planning of treatment of OSA patients. (paper)

  1. Prandial subcutaneous injections of glucagon-like peptide-1 cause weight loss in obese human subjects

    DEFF Research Database (Denmark)

    Näslund, Erik; King, N; Mansten, S

    2004-01-01

    Recombinant glucagon-like peptide-1 (7-36)amide (rGLP-1) was recently shown to cause significant weight loss in type 2 diabetics when administered for 6 weeks as a continuous subcutaneous infusion. The mechanisms responsible for the weight loss are not clarified. In the present study, rGLP-1 was ...... as a probable mechanism of action of increased satiety, decreased hunger and, hence, reduced food intake with an ensuing weight loss....

  2. Pinpointing Synaptic Loss Caused by Alzheimer?s Disease with fMRI

    OpenAIRE

    Brickman, Adam M.; Small, Scott A.; Fleisher, Adam

    2009-01-01

    During its earliest stage, before cell loss and independent of amyloid plaques and neurofibrillary tangles, Alzheimer's disease (AD) causes synaptic loss affecting the basal functional properties of neurons. In principle, synaptic loss can be detected by measuring AD-induced changes in basal function, or by measuring stimulus-evoked responses on top of basal changes. Functional magnetic resonance imaging (fMRI) is sensitive to both basal changes and evoked-responses, and there are therefore t...

  3. Exposure to low-dose barium by drinking water causes hearing loss in mice.

    Science.gov (United States)

    Ohgami, Nobutaka; Hori, Sohjiro; Ohgami, Kyoko; Tamura, Haruka; Tsuzuki, Toyonori; Ohnuma, Shoko; Kato, Masashi

    2012-10-01

    We continuously ingest barium as a general element by drinking water and foods in our daily life. Exposure to high-dose barium (>100mg/kg/day) has been shown to cause physiological impairments. Direct administration of barium to inner ears by vascular perfusion has been shown to cause physiological impairments in inner ears. However, the toxic influence of oral exposure to low-dose barium on hearing levels has not been clarified in vivo. We analyzed the toxic influence of oral exposure to low-dose barium on hearing levels and inner ears in mice. We orally administered barium at low doses of 0.14 and 1.4 mg/kg/day to wild-type ICR mice by drinking water. The doses are equivalent to and 10-fold higher than the limit level (0.7 mg/l) of WHO health-based guidelines for drinking water, respectively. After 2-week exposure, hearing levels were measured by auditory brain stem responses and inner ears were morphologically analyzed. After 2-month exposure, tissue distribution of barium was measured by inductively coupled plasma mass spectrometry. Low-dose barium in drinking water caused severe hearing loss in mice. Inner ears including inner and outer hair cells, stria vascularis and spiral ganglion neurons showed severe degeneration. The Barium-administered group showed significantly higher levels of barium in inner ears than those in the control group, while barium levels in bone did not show a significant difference between the two groups. Barium levels in other tissues including the cerebrum, cerebellum, heart, liver and kidney were undetectably low in both groups. Our results demonstrate for the first time that low-dose barium administered by drinking water specifically distributes to inner ears resulting in severe ototoxicity with degeneration of inner ears in mice. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. Chloroform ingestion causing severe gastrointestinal injury, hepatotoxicity and dermatitis confirmed with plasma chloroform concentrations.

    Science.gov (United States)

    Jayaweera, Dushan; Islam, Shawkat; Gunja, Naren; Cowie, Chris; Broska, James; Poojara, Latesh; Roberts, Michael S; Isbister, Geoffrey K

    2017-02-01

    Poisoning due to chloroform ingestion is rare. The classic features of acute chloroform toxicity include central nervous system (CNS) and respiratory depression, and delayed hepatotoxicity. A 30-year-old female ingested 20-30 mL of 99% chloroform solution, which caused rapid loss of consciousness, transient hypotension and severe respiratory depression requiring endotracheal intubation and ventilation. She was alert by 12 h and extubated 16 h post-overdose. At 38-h post-ingestion, her liver function tests started to rise and she was commenced on intravenous acetylcysteine. Her alanine transaminase (1283 U/L), aspartate transaminase (734 U/L) and international normalized ratio (2.3) peaked 67- to 72-h post-ingestion. She also developed severe abdominal pain, vomiting and diarrhoea. An abdominal CT scan was consistent with severe enterocolitis, and an upper gastrointestinal endoscopy showed erosive oesophagitis, severe erosive gastritis and ulceration. She was treated with opioid analgesia, proton pump inhibitors, sucralfate and total parenteral nutrition. Secretions caused a contact dermatitis of her face and back. Nine days post-ingestion she was able to tolerate food. Her liver function tests normalized and the dermatitis resolved. Chloroform was measured using headspace gas chromatograph mass spectrometry, with a peak concentration of 2.00 μg/mL, 4 h 20 min post-ingestion. The concentration-time data fitted a 1-compartment model with elimination half-life 6.5 h. In addition to early CNS depression and delayed hepatotoxicity, we report severe gastrointestinal injury and dermatitis with chloroform ingestion. Recovery occurred with good supportive care, acetylcysteine and management of gastrointestinal complications.

  5. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    Science.gov (United States)

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

  6. Estimating grain yield losses caused by septoria leaf blotch on durum wheat in Tunisia

    Directory of Open Access Journals (Sweden)

    Samia Berraies

    2014-12-01

    Full Text Available Septoria leaf blotch (SLB, caused by Zymoseptoria tritici (Desm. Quaedvlieg & Crous, 2011 (teleomorph: Mycosphaerella graminicola (Fuckel J. Schrot., is an important wheat disease in the Mediterranean region. In Tunisia, SLB has become a major disease of durum wheat (Triticum turgidum L. subsp. durum [Desf.] Husn. particularly during favorable growing seasons where significant yield losses and increase of fungicides use were recorded over the last three decades. The objectives of this study were to evaluate the effect of SLB severity on grain yield of new elite durum wheat breeding lines and to measure the relative effect of fungicide control on grain yield. Experiments were conducted during 2007-2008 and 2008-2009 cropping seasons. A set of 800 breeding lines were screened for reaction to SLB under natural infection at Beja research station. To estimate the disease effect, correlation between disease severity at early grain filling stage and grain yield was performed. Results showed that susceptible varieties yield was significantly reduced by SLB. Average yield reduction was as high as 384 and 325 kg ha-1 for every increment in disease severity on a 0-9 scale in both seasons, respectively. A negative correlation coefficient varied between -0.61 and -0.66 in both seasons. Treated and untreated trials conducted during 2008-2009 and 2009-2010 showed that yield of treated plots increased by 50% on the commonly cultivated susceptible varieties. The results of this investigation suggested that septoria incidence is related to large grain yield losses particularly on susceptible high yielding cultivars. However, appropriate fungicide application at booting growth stage could be beneficial for farmers. The development and use of more effective fungicide could be sought to alleviate the disease effects and therefore could be considered as a part of the integrated pest management and responsible use strategy on septoria leaf blotch in Tunisia.

  7. Trends in the incidence and causes of severe visual impairment and blindness in children from Israel.

    Science.gov (United States)

    Mezer, Eedy; Chetrit, Angela; Kalter-Leibovici, Ofra; Kinori, Michael; Ben-Zion, Itay; Wygnanski-Jaffe, Tamara

    2015-06-01

    To describe trends in the incidence and causes of legal childhood blindness in Israel, one of the few countries worldwide that maintain a national registry of the blind. We performed a historical cohort study of annual reports of the National Registry of the Blind (NRB) between 1999 and 2013. All data regarding demographic information, year of registration and cause of blindness of children 0-18 years of age registered for blind certification were obtained from the annual reports of the NRB. Causes of legal blindness analyzed were optic atrophy, retinitis pigmentosa, retinopathy of prematurity (ROP), albinism, other retinal disorders, cataract, and glaucoma. The main outcome measure was the incidence of new cases of certified legal blindness. The incidence of newly registered legally blind children in Israel almost halved from 7.7 per 100,000 in 1999 to 3.1 per 100,000 in 2013. The decline was mainly attributable to a decreased incidence of blindness resulting from retinitis pigmentosa and ROP. The incidence of registered cases due to cerebral visual impairment increased. During the past decade the incidence of severe childhood visual impairment and blindness declined in Israel. A continuous decline in consanguineous marriages among the Jewish and Arab populations in Israel may have contributed to the decrease in the rate of vision loss due to retinitis pigmentosa in children. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  8. Differing causes of pregnancy loss in type 1 and type 2 diabetes.

    Science.gov (United States)

    Cundy, Tim; Gamble, Greg; Neale, Leonie; Elder, Rose; McPherson, Paul; Henley, Patrick; Rowan, Janet

    2007-10-01

    Women with type 2 and type 1 diabetes have differing risk factors for pregnancy loss. We compared the rates and causes of pregnancy loss in women with type 1 and type 2 diabetes. We utilized prospectively collected data on all pregnancies in a 20-year period (1986-2005) from a single center with a high prevalence of type 2 diabetes. Pregnancy losses included terminations for medical reasons and deaths up to 1 month postpartum but not spontaneous pregnancy losses pregnancies in women with known diabetes (330 with type 1 and 540 with type 2 diabetes) and 325 in women with diabetes diagnosed in pregnancy but persisting postpartum (97% type 2 diabetes). The rate of pregnancy loss was similar in type 1 and type 2 diabetes (2.6 vs. 3.7%, P = 0.39), but the causes of pregnancy loss differed. In type 1 diabetes >75% were attributable to major congenital anomalies or prematurity; in type 2 diabetes >75% were attributable to stillbirth or chorioamnionitis (P = 0.017). Women with type 2 and type 1 diabetes had similar A1C at presentation and near term, but the former were older (P causes of pregnancy loss in women with type 1 and type 2 diabetes. The higher rates of stillbirth in women with type 2 diabetes, suggest that other features, such as obesity, contribute significantly to pregnancy losses.

  9. An unusual cause of conductive hearing loss: bilateral complete meatal obstruction following otoplasty.

    Science.gov (United States)

    Toplu, Yuksel; Toplu, Sibel Altunisik; Sapmaz, Emrah; Deliktas, Hacim

    2014-01-01

    There are many causes of conductive hearing loss. Otoplasty is a commonly performed cosmetic surgery to correction for prominent ear. We discussed an unusual cause of conductive hearing loss, bilateral complete meatal obstruction following otoplasty, in this article. This complication was probably due to unsuitable placement of the Furnas sutures. In the literature, as a cause of conductive hearing loss, unilateral complete meatal obstruction has been described rarely, but bilateral complete obstruction has not been defined. Hearing loss recovered completely after revision surgery. Correct diagnosis, accurate preoperative or perioperative examination, choice of the proper technique and surgeon experience are essential for avoiding inadequate results or complications of otoplasty. The surgeon should be aware of the cartilage elasticity and suture techniques to avoid this complication.

  10. Hyper-responsivity to losses in the anterior insula during economic choice scales with depression severity.

    Science.gov (United States)

    Engelmann, J B; Berns, G S; Dunlop, B W

    2017-12-01

    Commonly observed distortions in decision-making among patients with major depressive disorder (MDD) may emerge from impaired reward processing and cognitive biases toward negative events. There is substantial theoretical support for the hypothesis that MDD patients overweight potential losses compared with gains, though the neurobiological underpinnings of this bias are uncertain. Twenty-one unmedicated patients with MDD were compared with 25 healthy controls (HC) using functional magnetic resonance imaging (fMRI) together with an economic decision-making task over mixed lotteries involving probabilistic gains and losses. Region-of-interest analyses evaluated neural signatures of gain and loss coding within a core network of brain areas known to be involved in valuation (anterior insula, caudate nucleus, ventromedial prefrontal cortex). Usable fMRI data were available for 19 MDD and 23 HC subjects. Anterior insula signal showed negative coding of losses (gain > loss) in HC subjects consistent with previous findings, whereas MDD subjects demonstrated significant reversals in these associations (loss > gain). Moreover, depression severity further enhanced the positive coding of losses in anterior insula, ventromedial prefrontal cortex, and caudate nucleus. The hyper-responsivity to losses displayed by the anterior insula of MDD patients was paralleled by a reduced influence of gain, but not loss, stake size on choice latencies. Patients with MDD demonstrate a significant shift from negative to positive coding of losses in the anterior insula, revealing the importance of this structure in value-based decision-making in the context of emotional disturbances.

  11. Investigation And Comparison of Fifth Grade Elementary Student’s Reading Skills with Severe Hearing Loss and Hearing in Tehran

    Directory of Open Access Journals (Sweden)

    Mohammad Razaei

    2013-04-01

    Full Text Available Objective: Since the written language is based on spoken language, hearing impairments may cause delays and defects in reading skills. This study is aimed to investigate reading problems in children with hearing loss and comparison of reading skills of fifth-grade elementary students’ reading skills suffering severe hearing loss. Materials & Methods: In this cross-sectional comparative study, 16 children with hearing loss were selected based on inclusion criteria from the whole fifth-grade elementary students with severe hearing loss in the Baghcheban schools and compared with 16 normal children matched upon the grade with sample group. To gather the data, Reading Test in elementary students was used as well as SPSS for data analysis. Results: Results showed children with hearing loss performed similarly as the control group on some skills, including naming speed skills (P=0.385, auditory-verbal sounds (reverse memory (P=0.345, visual-verbal pictures memory (P=1, phonological deletion (P=0.817 and nonword reading accuracy (P=0.633, however, they had poorer functions in the other domains. Conclusion: According to the result, it is concluded that auditory processing plays the key role in all prerequisite reading skills and children with hearing loss performed poorly on tasks based on auditory and language processing, whereas, the same perform on visual-processing-base tasks to normal children.

  12. 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.

  13. Constipation severity is associated with productivity losses and healthcare utilization in patients with chronic constipation.

    Science.gov (United States)

    Neri, Luca; Basilisco, Guido; Corazziari, Enrico; Stanghellini, Vincenzo; Bassotti, Gabrio; Bellini, Massimo; Perelli, Ilaria; Cuomo, Rosario

    2014-04-01

    We sought to evaluate the association between constipation severity, productivity losses and healthcare utilization in a national sample of Italian patients with chronic non-organic constipation (CC). We enrolled 878 outpatients with CC. Clinical and demographic data were collected by physicians during clinical examinations. Patients completed a self-administered questionnaire (Patient Assessment of Constipation-Symptoms, PAC-SYM; Work Productivity and Activity Impairment; healthcare utilization, and Symptoms Checklist 90 Revised - Somatization Scale, SCL-90 R). Mean PAC-SYM score was 1.62 ± 0.69. Mean weekly sick time due to constipation was 2.7 ± 8.6 h and productivity losses due to presenteeism was 19.7% ± 22.3%. Adjusted productivity losses in patients with severe CC (PAC-SYM score 2.3-4.0) compared to patients with mild symptoms (PAC-SYM score 0.0-1.0) was Italian Purchase Power Parity US$ 6160. Constipation severity (PAC-SYM quintiles) was associated with higher healthcare utilization (RRPAC-SYM 4/01.84; p-value for linear trend <0.01). After adjustment for somatization scores, the association of constipation severity with productivity losses and healthcare utilization rates was attenuated yet statistically significant. We observed a graded increase in productivity losses and healthcare utilization with increasing constipation severity. Further studies should evaluate whether significant savings might be achieved with regimens aimed at reducing the constipation severity.

  14. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.

    Science.gov (United States)

    Arellano, B; Ramírez Camacho, R; García Berrocal, J R; Villamar, M; del Castillo, I; Moreno, F

    2000-09-01

    To study a family with inner ear malformations and sensorineural hearing loss. Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss. The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss that had begun during puberty. Computed tomography showed inner ear malformations in both males, with enlarged internal auditory meatus and Mondini dysplasia. Genetic analysis disclosed a microdeletion at the locus DFN3 on chromosome X. A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.

  15. Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

    Science.gov (United States)

    Chiabrando, Deborah; Castori, Marco; di Rocco, Maja; Ungelenk, Martin; Gießelmann, Sebastian; Di Capua, Matteo; Madeo, Annalisa; Grammatico, Paola; Bartsch, Sophie; Hübner, Christian A; Altruda, Fiorella; Silengo, Lorenzo; Tolosano, Emanuela; Kurth, Ingo

    2016-12-01

    Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neuropathies (HSANs). Although mutations in several genes were previously associated with sensory neurodegeneration, the etiology of many cases remains unknown. Using next generation sequencing in patients with congenital loss of pain perception, we here identify bi-allelic mutations in the FLVCR1 (Feline Leukemia Virus subgroup C Receptor 1) gene, which encodes a broadly expressed heme exporter. Different FLVCR1 isoforms control the size of the cytosolic heme pool required to sustain metabolic activity of different cell types. Mutations in FLVCR1 have previously been linked to vision impairment and posterior column ataxia in humans, but not to HSAN. Using fibroblasts and lymphoblastoid cell lines from patients with sensory neurodegeneration, we here show that the FLVCR1-mutations reduce heme export activity, enhance oxidative stress and increase sensitivity to programmed cell death. Our data link heme metabolism to sensory neuron maintenance and suggest that intracellular heme overload causes early-onset degeneration of pain-sensing neurons in humans.

  16. Oral creatine supplementation attenuates muscle loss caused by limb immobilization: a systematic review

    Directory of Open Access Journals (Sweden)

    Camila Souza Padilha

    Full Text Available Abstract Introduction: Recent studies have pointing creatine supplementation as a promising therapeutic alterna- tive in several diseases, especially myopathies and neurodegenerative disorder. Objective: elucidate the role of creatine supplementation on deleterious effect caused by limb immobilization in humans and rats. Methods: Analyzed articles were searched by three online databases, PubMed, SportDicus e Scielo. After a review and analysis, the studies were included in this review articles on effect of creatine supplementation on skeletal muscle in humans and rat, before, during and after a period of limb immobilization. Results: Studies analyzed demonstrated positive points in use of creatine supplementation as a therapeutic tool to mitigating the deleterious effects of limb immobilization, in humans and rat. Conclusion: The dataset of this literature review allows us to conclude that creatine supplementation may reduce muscle loss and/or assist in the recovery of muscle atrophy caused by immobilization and disuse in rats and humans. Also, we note that further research with better methodological rigor is needed to clarify the mechanisms by which creatine support the recovery of muscle atrophy. Moreover, these effects are positive and promising in the field of muscle rehabilitation, especially after member’s immobilization.

  17. Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

    Directory of Open Access Journals (Sweden)

    Deborah Chiabrando

    2016-12-01

    Full Text Available Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neuropathies (HSANs. Although mutations in several genes were previously associated with sensory neurodegeneration, the etiology of many cases remains unknown. Using next generation sequencing in patients with congenital loss of pain perception, we here identify bi-allelic mutations in the FLVCR1 (Feline Leukemia Virus subgroup C Receptor 1 gene, which encodes a broadly expressed heme exporter. Different FLVCR1 isoforms control the size of the cytosolic heme pool required to sustain metabolic activity of different cell types. Mutations in FLVCR1 have previously been linked to vision impairment and posterior column ataxia in humans, but not to HSAN. Using fibroblasts and lymphoblastoid cell lines from patients with sensory neurodegeneration, we here show that the FLVCR1-mutations reduce heme export activity, enhance oxidative stress and increase sensitivity to programmed cell death. Our data link heme metabolism to sensory neuron maintenance and suggest that intracellular heme overload causes early-onset degeneration of pain-sensing neurons in humans.

  18. GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.

    Science.gov (United States)

    Judson, Matthew C; Wallace, Michael L; Sidorov, Michael S; Burette, Alain C; Gu, Bin; van Woerden, Geeske M; King, Ian F; Han, Ji Eun; Zylka, Mark J; Elgersma, Ype; Weinberg, Richard J; Philpot, Benjamin D

    2016-04-06

    Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder associated with severe epilepsy. We previously implicated GABAergic deficits onto layer (L) 2/3 pyramidal neurons in the pathogenesis of neocortical hyperexcitability, and perhaps epilepsy, in AS model mice. Here we investigate consequences of selective Ube3a loss from either GABAergic or glutamatergic neurons, focusing on the development of hyperexcitability within L2/3 neocortex and in broader circuit and behavioral contexts. We find that GABAergic Ube3a loss causes AS-like increases in neocortical EEG delta power, enhances seizure susceptibility, and leads to presynaptic accumulation of clathrin-coated vesicles (CCVs)-all without decreasing GABAergic inhibition onto L2/3 pyramidal neurons. Conversely, glutamatergic Ube3a loss fails to yield EEG abnormalities, seizures, or associated CCV phenotypes, despite impairing tonic inhibition onto L2/3 pyramidal neurons. These results substantiate GABAergic Ube3a loss as the principal cause of circuit hyperexcitability in AS mice, lending insight into ictogenic mechanisms in AS. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Primary and Secondary Yield Losses Caused by Pests and Diseases: Assessment and Modeling in Coffee.

    Science.gov (United States)

    Cerda, Rolando; Avelino, Jacques; Gary, Christian; Tixier, Philippe; Lechevallier, Esther; Allinne, Clémentine

    2017-01-01

    The assessment of crop yield losses is needed for the improvement of production systems that contribute to the incomes of rural families and food security worldwide. However, efforts to quantify yield losses and identify their causes are still limited, especially for perennial crops. Our objectives were to quantify primary yield losses (incurred in the current year of production) and secondary yield losses (resulting from negative impacts of the previous year) of coffee due to pests and diseases, and to identify the most important predictors of coffee yields and yield losses. We established an experimental coffee parcel with full-sun exposure that consisted of six treatments, which were defined as different sequences of pesticide applications. The trial lasted three years (2013-2015) and yield components, dead productive branches, and foliar pests and diseases were assessed as predictors of yield. First, we calculated yield losses by comparing actual yields of specific treatments with the estimated attainable yield obtained in plots which always had chemical protection. Second, we used structural equation modeling to identify the most important predictors. Results showed that pests and diseases led to high primary yield losses (26%) and even higher secondary yield losses (38%). We identified the fruiting nodes and the dead productive branches as the most important and useful predictors of yields and yield losses. These predictors could be added in existing mechanistic models of coffee, or can be used to develop new linear mixed models to estimate yield losses. Estimated yield losses can then be related to production factors to identify corrective actions that farmers can implement to reduce losses. The experimental and modeling approaches of this study could also be applied in other perennial crops to assess yield losses.

  20. Gradual Recovery from Bilateral Severe Sensorineural Hearing Loss post Motor Vehicle Accident.

    Science.gov (United States)

    Yaroko, A A; Shahrjerdi, B; M D, Md Khairi

    2013-04-01

    Sensorineural hearing loss following trauma is a common finding in daily clinical practice and usually associated with a poor prognosis. Our case illustrates a patient who was involved in motor vehicle accident sustaining bilateral severe to profound sensorineural hearing loss but subsequently recovered fully after two years. Unless there is clear trauma to the cochlea or auditory nerve, a substantial duration of follow up is needed in the treatment of such cases.

  1. Aging causes collateral rarefaction and increased severity of ischemic injury in multiple tissues

    Science.gov (United States)

    Faber, James E.; Zhang, Hua; Lassance-Soares, Roberta M.; Prabhakar, Pranay; Najafi, Amir H.; Burnett, Mary Susan; Epstein, Stephen E.

    2011-01-01

    Objective Aging is a major risk factor for increased ischemic tissue injury. Whether collateral rarefaction and impaired remodeling contribute to this is unknown. We quantified the number and diameter of native collaterals, and their remodeling in 3-, 16-, 24-, and 31-months-old mice. Methods and Results Aging caused an “age-dose-dependent” greater drop in perfusion immediately after femoral artery ligation, followed by a diminished recovery of flow and increase in tissue injury. These effects were associated with a decline in collateral number, diameter and remodeling. Angiogenesis was also impaired. Mechanistically, these changes were not accompanied by reduced recruitment of T-cells or macrophages to remodeling collaterals. However, eNOS signaling was dysfunctional, as indicated by increased protein nitrosylation and less phosphorylated eNOS and VASP in collateral wall cells. The cerebral circulation exhibited a similar age-dose-dependent loss of collateral number and diameter and increased tortuosity, resulting in an increase in collateral resistance and infarct volume (e.g., 6- and 3-fold, respectively, in 24-months-old mice) after artery occlusion. This was not associated with rarefaction of similarly-sized arterioles. Collateral remodeling was also reduced. Conclusions Our findings demonstrate that aging causes rarefaction and insufficiency of the collateral circulation in multiple tissues, resulting in more severe ischemic tissue injury. PMID:21617137

  2. De Gustibus: time scale of loss and recovery of tastes caused by radiotherapy

    International Nuclear Information System (INIS)

    Maes, Annelies; Huygh, Ingrid; Weltens, Caroline; Vandevelde, Guy; Delaere, Pierre; Evers, Georges; Bogaert, Walter van den

    2002-01-01

    Purpose: To quantify the prevalence and distress of taste loss at different intervals after radiotherapy (RT) for head and neck cancer. Materials and methods: In four different groups of head and neck cancer patients (73 patients in total), taste loss and distress due to taste loss were evaluated by taste acuity tests and taste questionnaires. Group 1 (n=17) was analyzed prior to RT. Groups 2 (n=17), 3 (n=17) and 4 (n=22) were at 2, 6 and 12-24 months after treatment, respectively. A cross-sectional analysis was performed between these four groups. Results: Prior to initiation of RT (group 1), partial taste loss was observed in 35, 18 and 6% of patients for bitter, salt and sweet, respectively. At 2 months after RT (group 2), taste loss (partial or total) was seen in 88, 82, 76 and 53% for bitter, salt, sweet and sour, respectively. At 6 months (group 3), partial taste loss was seen in 71, 65, 41 and 41% (bitter, salt, sweet, sour) and after 1-2 years (group 4) in 41, 50, 27 and 27% (bitter, salt, sweet, sour). Distress caused by taste loss was most frequent in group 2 (82%). Conclusions: In this study, loss of taste after RT was found to be most pronounced after 2 months. Bitter and salt qualities were most impaired. Gradual recovery was seen during the first year after treatment. Partial taste loss still persisted 1-2 years after treatment and was responsible for slight to moderate discomfort

  3. Analysis of HFETR shut-down state caused by loss of off-site power supply

    International Nuclear Information System (INIS)

    Wang Jinghu

    1997-01-01

    During the last 15 years, there are more than 40 unplanned shut-downs caused by loss of off-site power in HFETR. Because HFETR is a special research reactor, the author describes the shut-down state as three period. The author also discusses the influence of the number of shut-down due to loss of off-site power supply on the reactor safety, and propose some suggestions and measures to reduce the effects

  4. Prevalence of Auditory Neuropathy in a Population of Children with Severe to Profound Hearing Loss

    Directory of Open Access Journals (Sweden)

    Nader Saki

    2013-04-01

    Full Text Available Background: The purpose of this investigation is to determine auditory neuropathy in the students with severe to profound hearing losses in Ahwaz.Materials and Methods: In this cross-sectional study, 212 children of 7-11 year old with severe to profound hearing loss performed ordinary audiometric evaluations as well as ABR and OAE. The patients with normal DPOAE who had no record of acoustic reflex having normal ABR, were considered as the patients with auditory neuropathy. Results: The neuropathic complication found in 14 children was appeared in 8 ones as one-sided (57.14% and in 6 ones (42.86% as two-sided. 68% of the patients as diagnosed had a very low Speech Discrimination Score (SDS.Conclusion: we must be very vigilant in auditory neuropathy diagnosis for the purpose to be successful in appropriate treatment of severe to profound hearing losses.

  5. Staged Custom, Intramedullary Antibiotic Spacers for Severe Segmental Bone Loss in Infected Total Hip Arthroplasty

    Directory of Open Access Journals (Sweden)

    Atul F. Kamath

    2011-01-01

    Full Text Available Introduction. Total hip arthroplasty (THA infections with severe bone loss pose significant reconstructive challenges. We present our experience with two-stage hip reimplantation using an intramedullary, antibiotic-impregnated nail. Methods. Three patients with infected THA with severe proximal femoral bone loss (Mallory type IIIB or greater were treated using a custom antibiotic spacer. Clinical outcomes and any complications were recorded. Average followup was 49 months from final reimplantation. Results. Mean age at spacer placement (stage 1 was 53 years. The mean Harris Hip Score at final followup was 80. Two patients had asymptomatic heterotopic ossification, and one patient had a 2 cm leg-length discrepancy. Conclusions. A custom intramedullary nail antibiotic spacer is a reliable option in the staged management of the infected THA with severe proximal femoral bone loss. Benefits of this technique include limb salvage with maintenance of leg length, soft tissue tension, and functional status.

  6. Risk finance for catastrophe losses with Pareto-calibrated Lévy-stable severities.

    Science.gov (United States)

    Powers, Michael R; Powers, Thomas Y; Gao, Siwei

    2012-11-01

    For catastrophe losses, the conventional risk finance paradigm of enterprise risk management identifies transfer, as opposed to pooling or avoidance, as the preferred solution. However, this analysis does not necessarily account for differences between light- and heavy-tailed characteristics of loss portfolios. Of particular concern are the decreasing benefits of diversification (through pooling) as the tails of severity distributions become heavier. In the present article, we study a loss portfolio characterized by nonstochastic frequency and a class of Lévy-stable severity distributions calibrated to match the parameters of the Pareto II distribution. We then propose a conservative risk finance paradigm that can be used to prepare the firm for worst-case scenarios with regard to both (1) the firm's intrinsic sensitivity to risk and (2) the heaviness of the severity's tail. © 2012 Society for Risk Analysis.

  7. Energy losses in the D0 β solenoid cryostat caused by current changes

    International Nuclear Information System (INIS)

    Visser, A.T.

    1993-11-01

    The proposed D0 β solenoid is a superconducting solenoid mounted inside an aluminum tube which supports the solenoid winding over it's full length. This aluminum support tube, also called bobbin, is therefore very tightly coupled to magnetic flux changes caused by solenoid current variations. These current changes in the solenoid, will cause answer currents to flow in the resistive bobbin wall and therefore cause heat losses. The insertion of an external dump resistor in the solenoid current loop reduces energy dissipation inside the cryostat during a quench and will shorten the discharge time constant. This note presents a simple electrical model for the coupled bobbin and solenoid and makes it easier to understand the circuit behavior and losses. Estimates for the maximum allowable rate of solenoid current changes, based on the maximum permissible rate of losses can be made using this model

  8. Edge-related loss of tree phylogenetic diversity in the severely fragmented Brazilian Atlantic forest.

    Directory of Open Access Journals (Sweden)

    Bráulio A Santos

    Full Text Available Deforestation and forest fragmentation are known major causes of nonrandom extinction, but there is no information about their impact on the phylogenetic diversity of the remaining species assemblages. Using a large vegetation dataset from an old hyper-fragmented landscape in the Brazilian Atlantic rainforest we assess whether the local extirpation of tree species and functional impoverishment of tree assemblages reduce the phylogenetic diversity of the remaining tree assemblages. We detected a significant loss of tree phylogenetic diversity in forest edges, but not in core areas of small (<80 ha forest fragments. This was attributed to a reduction of 11% in the average phylogenetic distance between any two randomly chosen individuals from forest edges; an increase of 17% in the average phylogenetic distance to closest non-conspecific relative for each individual in forest edges; and to the potential manifestation of late edge effects in the core areas of small forest remnants. We found no evidence supporting fragmentation-induced phylogenetic clustering or evenness. This could be explained by the low phylogenetic conservatism of key life-history traits corresponding to vulnerable species. Edge effects must be reduced to effectively protect tree phylogenetic diversity in the severely fragmented Brazilian Atlantic forest.

  9. Edge-related loss of tree phylogenetic diversity in the severely fragmented Brazilian Atlantic forest.

    Science.gov (United States)

    Santos, Bráulio A; Arroyo-Rodríguez, Víctor; Moreno, Claudia E; Tabarelli, Marcelo

    2010-09-08

    Deforestation and forest fragmentation are known major causes of nonrandom extinction, but there is no information about their impact on the phylogenetic diversity of the remaining species assemblages. Using a large vegetation dataset from an old hyper-fragmented landscape in the Brazilian Atlantic rainforest we assess whether the local extirpation of tree species and functional impoverishment of tree assemblages reduce the phylogenetic diversity of the remaining tree assemblages. We detected a significant loss of tree phylogenetic diversity in forest edges, but not in core areas of small (phylogenetic distance between any two randomly chosen individuals from forest edges; an increase of 17% in the average phylogenetic distance to closest non-conspecific relative for each individual in forest edges; and to the potential manifestation of late edge effects in the core areas of small forest remnants. We found no evidence supporting fragmentation-induced phylogenetic clustering or evenness. This could be explained by the low phylogenetic conservatism of key life-history traits corresponding to vulnerable species. Edge effects must be reduced to effectively protect tree phylogenetic diversity in the severely fragmented Brazilian Atlantic forest.

  10. Is otolithic vertigo accompanied by hearing loss caused by sacculocochlear endolymphatic hydrops?

    Science.gov (United States)

    Murofushi, Toshihisa; Komiyama, Sakurako; Hayashi, Yushi; Yoshimura, Eriko

    2016-01-01

    Otolithic vertigo is sometimes accompanied by hearing loss. Otolithic vertigo accompanied by hearing loss seems to be caused by sacculocochlear endolymphatic hydrops. To clarify the lesion site and pathophysiology of otolithic vertigo (OV) accompanied by hearing loss. The clinical records of four patients (two men and two women) that had been diagnosed with OV accompanied by hearing loss according to pre-determined diagnostic criteria were reviewed. The patients' main symptoms involved a sensation of movement in the pitch plane. All of the patients had low frequency-dominant hearing loss and either exhibited decreased cervical vestibular evoked myogenic potentials (cVEMP) or did not produce cVEMP. Two patients produced normal ocular VEMP (oVEMP). Caloric tests obtained normal results in all patients.

  11. Attitudes towards and perceptions of visual loss and its causes among Hong Kong Chinese adults.

    Science.gov (United States)

    Lau, Joseph Tak Fai; Lee, Vincent; Fan, Dorothy; Lau, Mason; Michon, John

    2004-06-01

    As part of a study of visual function among Hong Kong Chinese adults, their attitudes and perceptions related to visual loss were examined. These included fear of visual loss, negative functional impacts of visual loss, the relationship between ageing and visual loss and help-seeking behaviours related to visual loss. Demographic factors associated with these variables were also studied. The study population were people aged 40 and above randomly selected from the Shatin district of Hong Kong. The participants underwent eye examinations that included visual acuity, intraocular pressure measurement, visual field, slit-lamp biomicroscopy and ophthalmoscopy. The primary cause of visual disability was recorded. The participants were also asked about their attitudes and perceptions regarding visual loss using a structured questionnaire. The prevalence of bilateral visual disability was 2.2% among adults aged 40 or above and 6.4% among adults aged 60 or above. Nearly 36% of the participants selected blindness as the most feared disabling medical condition, which was substantially higher than conditions such as dementia, loss of limbs, deafness or aphasia. Inability to take care of oneself (21.0%), inconvenience related to mobility (20.2%) and inability to work (14.8%) were the three most commonly mentioned 'worst impact' effects of visual loss. Fully 68% of the participants believed that loss of vision is related to ageing. A majority of participants would seek help and advice from family members in case of visual loss. Visual function is perceived to be very important by Hong Kong Chinese adults. The fear of visual loss is widespread and particularly affects self-care and functional abilities. Visual loss is commonly seen as related to ageing. Attitudes and perceptions in this population may be modified by educational and outreach efforts in order to take advantage of preventive measures.

  12. Hypercortisolemia Is Associated with Severity of Bone Loss and Depression in Hypothalamic Amenorrhea and Anorexia Nervosa

    OpenAIRE

    Lawson, Elizabeth A.; Donoho, Daniel; Miller, Karen K.; Misra, Madhusmita; Meenaghan, Erinne; Lydecker, Janet; Wexler, Tamara; Herzog, David B.; Klibanski, Anne

    2009-01-01

    Context: Anorexia nervosa (AN) and functional hypothalamic amenorrhea (HA) are associated with low bone density, anxiety, and depression. Women with AN and HA have elevated cortisol levels. Significant hypercortisolemia, as in Cushing’s disease, causes bone loss. It is unknown whether anxiety and depression and/or cortisol dysregulation contribute to low bone density in AN or HA.

  13. A Hospital-based Study to Determine Causes of Diffuse Hair Loss in Women.

    Science.gov (United States)

    Malkud, Shashikant

    2015-08-01

    Diffuse hair loss is a common complaint encountered by dermatologists in their daily clinical practice. Hair loss in women is a distressing condition. Various underlying factors individually or in combination contribute to the pathogenesis. To determine causes of diffuse hair loss in women and to find the association between probable causes and relevant laboratory parameters, wherever applicable. One hundred and eighty women with diffuse hair loss were included in the study. Detailed history and clinical examination including hair pull test and hair microscopy were done in all study subjects. Specific laboratory investigations for determining iron deficiency anaemia, thyroid dysfunction and parasitic infestation were done. Among 180 patients, 116 (64.44%) had telogen effluvium, 28 (15.55%) had CTE, 21 (11.66%) had FPHL and 1 (0.55%) had AE. Fourteen patients (7.77%) had more than one aetiological diagnosis of diffuse hair loss. TE was the commonest type of diffuse hair loss. Incidence of TE and FPHL were highest in the age group of 21-30 years, whereas CTE in 30-40 years. Psychological stress and iron deficiency anaemia were the most common underlying aetiological factors for TE, which is statistically significant (phair loss is a multifactorial condition. A detailed history, thorough clinical examination and appropriate investigations help to identify the causative factors and treat them accordingly.

  14. Bilateral External Auditory Exostoses Causing Conductive Hearing Loss: A Case Report and Literature Review of the Surfer's Ear.

    Science.gov (United States)

    Barbon, Dennis A; Hegde, Rahul; Li, Shuo; Abdelbaki, Ahmed; Bajaj, Divyansh

    2017-10-30

    In patients with repeated exposure to cold water, such as cold water surfers and kayakers, the reactive exostoses can occur in the external auditory canal. The external auditory canal exostoses are multiple, benign bony growths. They can cause external auditory canal stenosis, leading to repeated otitis externa and potentially conductive hearing loss. It is vital to consider this entity in susceptible patients who report hearing loss, as timely intervention such as proper ear protection equipment can lower the risk of developing severe external auditory canal exostoses. We present a case of a 42-year-old male, cold water surfer with conductive hearing loss and bilateral external auditory canal (EAC) stenosis demonstrated on the computed tomography.

  15. Recent Advances in Cerebellar Ischemic Stroke Syndromes Causing Vertigo and Hearing Loss.

    Science.gov (United States)

    Kim, Hyun-Ah; Yi, Hyon-Ah; Lee, Hyung

    2016-12-01

    Cerebellar ischemic stroke is one of the common causes of vascular vertigo. It usually accompanies other neurological symptoms or signs, but a small infarct in the cerebellum can present with vertigo without other localizing symptoms. Approximately 11 % of the patients with isolated cerebellar infarction simulated acute peripheral vestibulopathy, and most patients had an infarct in the territory of the medial branch of the posterior inferior cerebellar artery (PICA). A head impulse test can differentiate acute isolated vertigo associated with PICA territory cerebellar infarction from more benign disorders involving the inner ear. Acute hearing loss (AHL) of a vascular cause is mostly associated with cerebellar infarction in the territory of the anterior inferior cerebellar artery (AICA), but PICA territory cerebellar infarction rarely causes AHL. To date, at least eight subgroups of AICA territory infarction have been identified according to the pattern of neurotological presentations, among which the most common pattern of audiovestibular dysfunction is the combined loss of auditory and vestibular functions. Sometimes acute isolated audiovestibular loss can be the initial symptom of impending posterior circulation ischemic stroke (particularly within the territory of the AICA). Audiovestibular loss from cerebellar infarction has a good long-term outcome than previously thought. Approximately half of patients with superior cerebellar artery territory (SCA) cerebellar infarction experienced true vertigo, suggesting that the vertigo and nystagmus in the SCA territory cerebellar infarctions are more common than previously thought. In this article, recent findings on clinical features of vertigo and hearing loss from cerebellar ischemic stroke syndrome are summarized.

  16. Morphosyntactic correctness of written language production in adults with moderate to severe congenital hearing loss

    NARCIS (Netherlands)

    Huysmans, Elke; de Jong, Jan; Festen, Joost M.; Coene, Martine M.R.; Goverts, S. Theo

    2017-01-01

    Objective To examine whether moderate to severe congenital hearing loss (MSCHL) leads to persistent morphosyntactic problems in the written language production of adults, as it does in their spoken language production. Design Samples of written language in Dutch were analysed for morphosyntactic

  17. A tradeoff between the losses caused by computer viruses and the risk of the manpower shortage

    NARCIS (Netherlands)

    Bi, Jichao; Yang, L.; Yang, Xiaofan; Wu, Yingbo; Tang, Yuan Yan

    2018-01-01

    This article addresses the tradeoff between the losses caused by a new virus and the size of the team for developing an antivirus against the virus. First, an individual-level virus spreading model is proposed to capture the spreading process of the virus before the appearance of its natural

  18. PREGNANCY LOSS IN THE F344 RAT CAUSED BY BROMODICHLOROMETHANE: EFFECTS ON SERUM LUTEINIZING HORMONE LEVELS

    Science.gov (United States)

    PREGNANCY LOSS IN THE F344 RAT CAUSED BY BROMODICHLOROMETHANE: EFFECTS ON SERUM LUTEINIZING HORMONE LEVELS Bielmeier1, S.R., D.S. Best2, and M.G. Narotsky2; 1University of North Carolina at Chapel Hill, Curriculum in Toxicology, 2Reproductive Toxicology Division, U.S. Enviro...

  19. Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

    NARCIS (Netherlands)

    Oonk, A.M.M.; Huet, R.A.C. van; Leijendeckers, J.M.; Oostrik, J.; Venselaar, H.; WIjk, E. van; Beynon, A.J.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Schraders, M.; Pennings, R.J.E.

    2015-01-01

    OBJECTIVE: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome. DESIGN:

  20. Loss in species caused by tropical deforestation and their recovery through management

    Science.gov (United States)

    Ariel E. Lugo; John A. Parrotta; Sandra Brown

    1993-01-01

    The loss of species as a result of deforestation and degradation of tropical forest lands is widely discussed. Models based on island biogeography theory are used to evaluate the relationship between extinctions of species and deforestation. The analysis shows that natural resiliency causes the models to overestimate the rates of species extinctions for given...

  1. Methodology used in Cuba for estimating economic losses caused by forest fires

    Science.gov (United States)

    Marcos Pedro Ramos Rodríguez; Raúl González Rodríguez

    2013-01-01

    Assessment of economic losses caused by forest fires is a highly complex but important activity. It is complicated first by the large number of effects, in different periods, brought about in the social, economic and environmental fields. Secondly, the difficulty of assigning a market value to resources such as biodiversity or endangered species should be mentioned. It...

  2. Technical and economic assessment of losses caused by rock swelling in mines of the Western Donbass

    Energy Technology Data Exchange (ETDEWEB)

    Pirskii, A A; Stovpnik, S N; Shmigol' , A V

    1988-07-01

    Describes mining geologic conditions in mines of the Pavlovgradugol' association where production increased by 1.7 times during the last 10 years. Floor swelling of 1.1 m/a occurs at depths over 300 m and with rock strength in side walls below 20 MPa. Annually 22 km of workings must undergo repair and 10.4% of crews does the repair work. Technical and economic consequences of floor swelling are analyzed. Annual outlays on maintenance of 1 m of roadways increased to 160-200 rubles. Annual losses on maintenance of workings per coal mining association lie within 300,000-500,000 rubles. At the im. Geroev Kosmosa and im. Leninskogo Komsomola Ukrainy mines these losses amount to 520,000-730,000 and 840,000-845,000 rubles respectively. A comprehensive analysis of production losses and delays in development workings caused by floor swelling is presented. Formulae for loss calculation are given.

  3. Psychological adjustment to amputation: variations on the bases of sex, age and cause of limb loss

    International Nuclear Information System (INIS)

    Ali, S.; Haider, S.K.F.

    2017-01-01

    Amputation is the removal of a limb or part of a limb by a surgical procedure in order to save the life of a person. The underlying reasons behind the occurrence of this tragic incidence may be varied. However, irrespective of its cause limb loss is associated with wide range of life challenges. The study was done to investigate the psychological sequel of an individual after losing a limb and to know the level of strain and pressure they experience after this traumatic event. It also attempts to examine the moderating role of some demographic traits such as age, sex and cause of limb loss in psychosocial adjustment to amputation. Methods: The study includes 100 adult amputees of both genders and the data was collected from major government and private hospitals of Peshawar district. Demographic data sheet was constructed in order to know the demographics traits of amputees and a standardize Psychological Adjustment Scale developed by Sabir (1999) was used to find out the level of psychological adjustment after limb loss. Results: Nearly all the amputees' exhibit signs of psychological maladjustment at varying degrees. Males showed much greater signs of maladjustment than women and young adults were much psychologically shattered and disturbed as a result of limb loss. Amputation caused by planned medical reasons leads to less adjustment issues as compared to unplanned accidental amputation in which patient were not mentally prepare to accept this loss. Conclusion: Psychological aspect of amputation is an important aspect of limb loss which needs to be addressed properly in order to rehabilitate these patients and helps them to adjust successfully to their limb loss. (author)

  4. Prevalence and Causes of Visual Loss Among the Indigenous Peoples of the World: A Systematic Review.

    Science.gov (United States)

    Foreman, Joshua; Keel, Stuart; van Wijngaarden, Peter; Bourne, Rupert A; Wormald, Richard; Crowston, Jonathan; Taylor, Hugh R; Dirani, Mohamed

    2018-05-01

    Studies have documented a higher disease burden in indigenous compared with nonindigenous populations, but no global data on the epidemiology of visual loss in indigenous peoples are available. A systematic review of literature on visual loss in the world's indigenous populations could identify major gaps and inform interventions to reduce their burden of visual loss. To conduct a systematic review on the prevalence and causes of visual loss among the world's indigenous populations. A search of databases and alternative sources identified literature on the prevalence and causes of visual loss (visual impairment and blindness) and eye diseases in indigenous populations. Studies from January 1, 1990, through August 1, 2017, that included clinical eye examinations of indigenous participants and, where possible, compared findings with those of nonindigenous populations were included. Methodologic quality of studies was evaluated to reveal gaps in the literature. Limited data were available worldwide. A total of 85 articles described 64 unique studies from 24 countries that examined 79 598 unique indigenous participants. Nineteen studies reported comparator data on 42 085 nonindigenous individuals. The prevalence of visual loss was reported in 13 countries, with visual impairment ranging from 0.6% in indigenous Australian children to 48.5% in native Tibetans 50 years or older. Uncorrected refractive error was the main cause of visual impairment (21.0%-65.1%) in 5 of 6 studies that measured presenting visual acuity. Cataract was the main cause of visual impairment in all 6 studies measuring best-corrected acuity (25.4%-72.2%). Cataract was the leading cause of blindness in 13 studies (32.0%-79.2%), followed by uncorrected refractive error in 2 studies (33.0% and 35.8%). Most countries with indigenous peoples do not have data on the burden of visual loss in these populations. Although existing studies vary in methodologic quality and reliability, they suggest that most

  5. Early Subchondral Bone Loss at Arthritis Onset Predicted Late Arthritis Severity in a Rat Arthritis Model.

    Science.gov (United States)

    Courbon, Guillaume; Cleret, Damien; Linossier, Marie-Thérèse; Vico, Laurence; Marotte, Hubert

    2017-06-01

    Synovitis is usually observed before loss of articular function in rheumatoid arthritis (RA). In addition to the synovium and according to the "Inside-Outside" theory, bone compartment is also involved in RA pathogenesis. Then, we investigated time dependent articular bone loss and prediction of early bone loss to late arthritis severity on the rat adjuvant-induced arthritis (AIA) model. Lewis female rats were longitudinally monitored from arthritis induction (day 0), with early (day 10) and late (day 17) steps. Trabecular and cortical microarchitecture parameters of four ankle bones were assessed by microcomputed tomography. Gene expression was determined at sacrifice. Arthritis occurred at day 10 in AIA rats. At this time, bone erosions were detected on four ankle bones, with cortical porosity increase (+67%) and trabecular alterations including bone volume fraction (BV/TV: -13%), and trabecular thickness decrease. Navicular bone assessment was the most reproducible and sensitive. Furthermore, strong correlations were observed between bone alterations at day 10 and arthritis severity or bone loss at day 17, including predictability of day 10 BV/TV to day 17 articular index (R 2  = 0.76). Finally, gene expression at day 17 confirmed massive osteoclast activation and interestingly provided insights on strong activation of bone formation inhibitor markers at the joint level. In rat AIA, bone loss was already observed at synovitis onset and was predicted late arthritis severity. Our results reinforced the key role of subchondral bone in arthritis pathogenesis, in favour to the "Inside-Outside" theory. Mechanisms of bone loss in rat AIA involved resorption activation and formation inhibition changes. J. Cell. Physiol. 232: 1318-1325, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Effectiveness of a Low-Calorie Weight Loss Program in Moderately and Severely Obese Patients

    Directory of Open Access Journals (Sweden)

    Julia K. Winkler

    2013-10-01

    Full Text Available Aims: To compare effectiveness of a 1-year weight loss program in moderately and severely obese patients. Methods: The study sample included 311 obese patients participating in a weight loss program, which comprised a 12-week weight reduction phase (low-calorie formula diet and a 40-week weight maintenance phase. Body weight and glucose and lipid values were determined at the beginning of the program as well as after the weight reduction and the weight maintenance phase. Participants were analyzed according to their BMI class at baseline (30-34.9 kg/m2; 35-39.9 kg/m2; 40-44.9 kg/m2; 45-49.9 kg/m2; ≥50 kg/m2. Furthermore, moderately obese patients (BMI 2 were compared to severely obese participants (BMI ≥ 40 kg/m2. Results: Out of 311 participants, 217 individuals completed the program. Their mean baseline BMI was 41.8 ± 0.5 kg/m2. Average weight loss was 17.9 ± 0.6%, resulting in a BMI of 34.3 ± 0.4 kg/m2 after 1 year (p Conclusion: 1-year weight loss intervention improves body weight as well as lipid and glucose metabolism not only in moderately, but also in severely obese individuals.

  7. Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.

    Science.gov (United States)

    Harris, Suzan L; Kazmierczak, Marcin; Pangršič, Tina; Shah, Prahar; Chuchvara, Nadiya; Barrantes-Freer, Alonso; Moser, Tobias; Schwander, Martin

    2017-03-06

    Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival. Consistent with this model, synaptic transmission at the IHC ribbon synapse is largely unaffected in sirtaki mice that carry a C-terminal deletion mutation in Pjvk. Using the C-terminal domain of pejvakin as bait, we identified in a cochlear cDNA library ROCK2, an effector for the small GTPase Rho, and the scaffold protein IQGAP1, involved in modulating actin dynamics. Both ROCK2 and IQGAP1 associate via their coiled-coil domains with pejvakin. We conclude that pejvakin is required to sustain OHC activity and survival in a cell-autonomous manner likely involving regulation of Rho signaling. Copyright © 2017 IBRO. Published by Elsevier Ltd. All rights reserved.

  8. The disease that caused weight loss in King David the Great.

    Science.gov (United States)

    Ben-Noun, Liubov Louba

    2004-02-01

    Older people have suffered from loss of weight since the dawn of history. This research is unique in character, as it combines contemporary medical knowledge with the presentation of a case taken from Ancient History. To analyze from a modern perspective the biblical description of a geriatric patient who suffered from weight loss. Biblical texts associated with the aged were examined and passages relating to geriatric patients who suffered from loss of weight were closely studied. This study is based on the evaluation of the biblical passages, and not on the interpretations of various rabbis and scholars. Passages such as: ". I forget to eat my bread" and "My knees are weak through fasting; and my flesh failed of fatness" and ". my bones cleave to my skin" indicate anorexia, fasting, extreme loss of weight, and subsequent cachexia. Among the numerous causes associated with weight loss, malignancy, social problems such as loneliness, social isolation and neglect by others, and psychological causes including depressed mood were most likely responsible. With regard to malignancy, it seems that the King was affected by primary carcinoma of the prostate or kidney with subsequent metastases to bones. This report demonstrates that the roots of geriatric medicine can be traced to biblical times.

  9. Major losses of nutrients following a severe drought in a boreal forest.

    Science.gov (United States)

    Houle, Daniel; Lajoie, Geneviève; Duchesne, Louis

    2016-11-28

    Because of global warming, the frequency and severity of droughts are expected to increase, which will have an impact on forest ecosystem health worldwide 1 . Although the impact of drought on tree growth and mortality is being increasingly documented 2-4 , very little is known about the impact on nutrient cycling in forest ecosystems. Here, based on long-term monitoring data, we report nutrient fluxes in a boreal forest before, during and following a severe drought in July 2012. During and shortly after the drought, we observed high throughfall (rain collected below the canopy) concentrations of nutrient base cations (potassium, calcium and magnesium), chlorine, phosphorus and dissolved organic carbon (DOC), differing by one to two orders of magnitude relative to the long-term normal, and resulting in important canopy losses. The high throughfall fluxes had repercussions in the soil solution at a depth of 30 cm, leading to high DOC, chlorine and potassium concentrations. The net potassium losses (atmospheric deposition minus leaching losses) following the drought were especially important, being the equivalent of nearly 20 years of net losses under 'normal' conditions. Our data show that droughts have unexpected impacts on nutrient cycling through impacts on tree canopy and soils and may lead to important episodes of potassium losses from boreal forest ecosystems. The potassium losses associated with drought will add to those originating from tree harvesting and from forest fires and insect outbreaks 5-7 (with the last two being expected to increase in the future as a result of climate change), and may contribute to reduced potassium availability in boreal forests in a warming world.

  10. What may cause fetus loss from acute pancreatitis in pregnancy: Analysis of 54 cases.

    Science.gov (United States)

    Tang, Min; Xu, Jian-Ming; Song, Sha-Sha; Mei, Qiao; Zhang, Li-Jiu

    2018-02-01

    Acute pancreatitis in pregnancy (APIP) poses a serious threat to the mother and her fetus, and might lead to fetal loss including miscarriage and stillbirth in certain patients. We sought to identify possible factors that affect fetal distress and evaluated outcomes of patients with APIP.We retrospectively reviewed clinical records of 54 pregnant women with APIP, who were treated at 2 tertiary clinical centers over a 6-year period. Clinical characteristics including etiology and severity of APIP, fetal monitoring data, and maternofetal outcomes were analyzed.Etiology of APIP included acute biliary pancreatitis (ABP, n = 14), hyperlipidemic pancreatitis (HLP, n = 22), and other etiologies (n = 18). Severity was classified as mild acute pancreatitis (MAP, n = 23), moderately severe acute pancreatitis (MSAP, n = 24), and severe acute pancreatitis (SAP, n = 7). The incidence of preterm delivery, fetal distress, and fetal loss increased with the progression of severity of APIP (P < .05). The severity of HLP was significantly higher than that of ABP and APIP of other etiology (P < .01). HLP was more likely to lead to fetal distress than other APs (P < .01). Only 12 (22.2%) patients had fetal monitoring including non-stress test (NST); 1 case of SAP (14.3%) and 15 cases of MSAP (62.5%) were not transferred to intensive care unit for intensive monitoring.The incidence of fetal distress and fetal loss increased with worsening of APIP severity. HLP tends to result in worse fetal outcomes. The deficiencies of fetal state monitoring, lack of assessment, and management of pregnant women might increase the fetal loss in APIP.

  11. Glaucoma Severity and Participation in Diverse Social Roles: Does Visual Field Loss Matter?

    Science.gov (United States)

    Yang, Yelin; Trope, Graham E; Buys, Yvonne M; Badley, Elizabeth M; Gignac, Monique A M; Shen, Carl; Jin, Ya-Ping

    2016-07-01

    To assess the association between glaucoma severity and participation in diverse social roles. Cross-sectional survey. Individuals with glaucoma, 50+, with visual acuity in the better eye >20/50 were enrolled. They were classified into 3 groups based on visual field loss in the better eye: mild [mean deviation (MD)>-6 dB], moderate (MD, -6 to -12 dB), and severe (MDSocial Role Participation Questionnaire assessed respondents' perceptions of the importance, difficulty, and satisfaction with participation in 11 social role domains (eg, community events, travel). Differences between groups were examined using multivariate linear regression analyses. A total of 118 participants (52% female) were included: 60 mild, 29 moderate, and 29 severe. All social role domains were rated as important by all participants except for education and employment. Women (Psocial activities. Compared with those with mild glaucoma, individuals with severe glaucoma reported significantly more difficulty participating in community/religious/cultural events (Psocial events (P=0.04). Participation in diverse social roles is valued by individuals with glaucoma. Severe visual field loss impedes involvement in and satisfaction with activities in community/religious/cultural events, travelling, and relationships with family members. Appropriate community and targeted interventions are needed to allow people with severe glaucoma to maintain active social participation-a key component to successful aging.

  12. A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, D. L.

    2014-01-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous......-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. (C) 2014 Wiley Periodicals, Inc....

  13. Output Loss Severity across EU Countries. Evidence for the 2008 Financial Crisis

    Directory of Open Access Journals (Sweden)

    Iustina Alina Boitan

    2015-08-01

    Full Text Available Financial crises are complex phenomena, in terms of the triggering factors, duration and severity, impact on both financial system and macroeconomic fundamentals and the full range of costs arising from its occurrence. The paper aims at providing an updated picture on the magnitude the 2008 financial crisis had, in terms of economic costs incurred by EU member states. It has been briefly reviewed crises’ main monetary and economic effects and costs. Then it has been employed International Monetary Fund’s approach for measuring crisis severity, expressed as an output loss indicator. To check the stability of the results, the basic methodology relying on a 3-year GDP trend has been complemented with a 7-year GDP trend. The output losses recorded by each EU country, under both trend assumptions, showed that Baltic states and Greece had been the most affected as they cumulated the highest losses. The lowest output losses have been registered in Western Europe countries (Austria, Belgium, France, Germany and Poland. Most EU economies’ growth still hasn’t entered on a robust ascending path, as they haven’t reached the level of GDP trend computed for the period preceding the onset of the financial crisis.

  14. Severe hypoglycaemia requiring the assistance of emergency medical services - frequency, causes and symptoms

    Czech Academy of Sciences Publication Activity Database

    Krnačová, V.; Kuběna, Aleš Antonín; Macek, K.; Bezděk, M.; Šmahelová, A.; Vlček, J.

    2012-01-01

    Roč. 156, č. 3 (2012), s. 271-277 ISSN 1213-8118 Grant - others:GA UK(CZ) SVV-2010-261-004 Keywords : regression trees * causes * symptoms * incidence * emergency medical service * severe hypoglycaemia Subject RIV: EI - Biotechnology ; Bionics Impact factor: 0.990, year: 2012 http://library.utia.cas.cz/separaty/2013/E/kubena-severe hypoglycaemia requiring the assistance of emergency medical services - frequency causes and symptoms.pdf

  15. Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.

    Science.gov (United States)

    Carroll, Joseph; Neitz, Maureen; Hofer, Heidi; Neitz, Jay; Williams, David R

    2004-06-01

    There is enormous variation in the X-linked L/M (long/middle wavelength sensitive) gene array underlying "normal" color vision in humans. This variability has been shown to underlie individual variation in color matching behavior. Recently, red-green color blindness has also been shown to be associated with distinctly different genotypes. This has opened the possibility that there may be important phenotypic differences within classically defined groups of color blind individuals. Here, adaptive optics retinal imaging has revealed a mechanism for producing dichromatic color vision in which the expression of a mutant cone photopigment gene leads to the loss of the entire corresponding class of cone photoreceptor cells. Previously, the theory that common forms of inherited color blindness could be caused by the loss of photoreceptor cells had been discounted. We confirm that remarkably, this loss of one-third of the cones does not impair any aspect of vision other than color.

  16. Severe Bone Loss induced by Orthodontic Elastic Separator: A Rare Case Report

    OpenAIRE

    A E Vishwanath; B K Sharmada; Sandesh S Pai; Nandini Nelvigi

    2013-01-01

    A displaced orthodontic elastic separator was proposed as being the source of a gingival abscess that progressed to severe bone loss and exfoliation in a healthy adolescent patient with sound periodontal status prior to commencement of orthodontic treatment. After 1 year of undergoing orthodontic treatment, the patient presented with dull pain and mobility in the left upper permanent molar for which there was no apparent etiology. On clinical examination, the patient had gingival inflammation...

  17. A case of severe anorexia, excessive weight loss and high peptide YY levels after sleeve gastrectomy.

    Science.gov (United States)

    Pucci, Andrea; Cheung, Wui Hang; Jones, Jenny; Manning, Sean; Kingett, Helen; Adamo, Marco; Elkalaawy, Mohamed; Jenkinson, Andrew; Finer, Nicholas; Doyle, Jacqueline; Hashemi, Majid; Batterham, Rachel L

    2015-01-01

    Sleeve gastrectomy (SG) is the second most commonly performed bariatric procedure worldwide. Altered circulating gut hormones have been suggested to contribute post-operatively to appetite suppression, decreased caloric intake and weight reduction. In the present study, we report a 22-year-old woman who underwent laparoscopic SG for obesity (BMI 46 kg/m(2)). Post-operatively, she reported marked appetite reduction, which resulted in excessive weight loss (1-year post-SG: BMI 22 kg/m(2), weight loss 52%, >99th centile of 1-year percentage of weight loss from 453 SG patients). Gastrointestinal (GI) imaging, GI physiology/motility studies and endoscopy revealed no anatomical cause for her symptoms, and psychological assessments excluded an eating disorder. Despite nutritional supplements and anti-emetics, her weight loss continued (BMI 19 kg/m(2)), and she required nasogastric feeding. A random gut hormone assessment revealed high plasma peptide YY (PYY) levels. She underwent a 3 h meal study following an overnight fast to assess her subjective appetite and circulating gut hormone levels. Her fasted nausea scores were high, with low hunger, and these worsened with nutrient ingestion. Compared to ten other post-SG female patients, her fasted circulating PYY and nutrient-stimulated PYY and active glucagon-like peptide 1 (GLP1) levels were markedly elevated. Octreotide treatment was associated with suppressed circulating PYY and GLP1 levels, increased appetite, increased caloric intake and weight gain (BMI 22 kg/m(2) after 6 months). The present case highlights the value of measuring gut hormones in patients following bariatric surgery who present with anorexia and excessive weight loss and suggests that octreotide treatment can produce symptomatic relief and weight regain in this setting. Roux-en-Y gastric bypass and SG produce marked sustained weight reduction. However, there is a marked individual variability in this reduction, and post-operative weight loss

  18. Tooth loss caused by displaced elastic during simple preprosthetic orthodontic treatment

    Science.gov (United States)

    Dianiskova, Simona; Calzolari, Chiara; Migliorati, Marco; Silvestrini-Biavati, Armando; Isola, Gaetano; Savoldi, Fabio; Dalessandri, Domenico; Paganelli, Corrado

    2016-01-01

    The use of elastics to close a diastema or correct tooth malpositions can create unintended consequences if not properly controlled. The American Association of Orthodontists recently issued a consumer alert, warning of “a substantial risk for irreparable damage” from a new trend called “do-it-yourself” orthodontics, consisting of patients autonomously using elastics to correct tooth position. The elastics can work their way below the gums and around the roots of the teeth, causing damage to the periodontium and even resulting in tooth loss. The cost of implants to replace these teeth would well exceed the cost of proper orthodontic care. This damage could also occur in a dental office, when a general dentist tries to perform a simplified orthodontic correction of a minor tooth malposition. The present case report describes a case of tooth loss caused by a displaced intraoral elastic, which occurred during a simple preprosthetic orthodontic treatment. PMID:27672645

  19. Can an "Aesthetic" Intervention (Braided Hair Coil) Cause Hair Loss After an Aesthetic Operation?

    Science.gov (United States)

    Dionyssopoulos, Alexander; Papaconstantinou, Antony; Stoltidou, Alexandra; Spyropoulou, Georgia-Alexandra

    2014-07-01

    Postoperative pressure alopecia (PPA), defined as hair loss caused by prolonged pressure on the patient's scalp during surgery, is an uncommon condition after aesthetic surgery. Originally, it was described for patients who underwent lengthy cardiovascular and gynecologic operations. The authors present a rare case, in which hair loss occurred after secondary breast augmentation (replacement of breast implants). The PPA appeared in the occipitoparietal region of the patient's scalp approximately 2 weeks after surgery. The operation was completed in less than 3 hours, without any fluctuations in the patient's blood pressure or any unusual blood loss. There were no other precipitating factors such as anemia or coagulopathies. The probable cause of this unexpected result was the patient's braided hair coil, which had not been noted before the operation. The patient habitually, and on the day of her operation, combed her hair into a braided coil, which placed extra pressure on the occipitoparietal region. The hair loss was temporary, and hair regrowth was complete within 2 months. This incident may have been avoided if the braided hair coil had been noted by nursing or other medical staff preoperatively. Repositioning the head every 30 minutes and providing adequate head padding during surgery are advised to protect the patient and prevent such incidents. 5. © 2014 The American Society for Aesthetic Plastic Surgery, Inc.

  20. Evaluation of the apparent losses caused by water meter under-registration in intermittent water supply.

    Science.gov (United States)

    Criminisi, A; Fontanazza, C M; Freni, G; Loggia, G La

    2009-01-01

    Apparent losses are usually caused by water theft, billing errors, or revenue meter under-registration. While the first two causes are directly related to water utility management and may be reduced by improving company procedures, water meter inaccuracies are considered to be the most significant and hardest to quantify. Water meter errors are amplified in networks subjected to water scarcity, where users adopt private storage tanks to cope with the intermittent water supply. The aim of this paper is to analyse the role of two variables influencing the apparent losses: water meter age and the private storage tank effect on meter performance. The study was carried out in Palermo (Italy). The impact of water meter ageing was evaluated in laboratory by testing 180 revenue meters, ranging from 0 to 45 years in age. The effects of the private water tanks were determined via field monitoring of real users and a mathematical model. This study demonstrates that the impact on apparent losses from the meter starting flow rapidly increases with meter age. Private water tanks, usually fed by a float valve, overstate meter under-registration, producing additional apparent losses between 15% and 40% for the users analysed in this study.

  1. Congenital cytomegalovirus (CMV) infection as a cause of permanent bilateral hearing loss: a quantitative assessment.

    Science.gov (United States)

    Grosse, Scott D; Ross, Danielle S; Dollard, Sheila C

    2008-02-01

    Congenital cytomegalovirus (CMV) infection is a cause of sensorineural hearing loss (SNHL) in children, but the magnitude of its contribution is uncertain. Quantifying the impact of congenital CMV infection requires an evidence-based assessment using a standard case definition of hearing loss. To determine the frequency of bilateral moderate to profound SNHL in children with congenital CMV infection and to estimate the CMV-attributable fraction of bilateral moderate to profound SNHL. A systematic review of studies of children with congenital CMV infection ascertained in an unbiased manner through universal newborn screening for CMV using viral culture in urine or saliva specimens in combination with a review of the literature on congenital CMV infection and hearing loss, including articles of all types. Approximately, 14% of children with congenital CMV infection develop SNHL of some type, and 3-5% develop bilateral moderate to profound SNHL. Among all children with bilateral moderate to profound SNHL, we estimate that 15-20% of cases are attributable to congenital CMV infection. Congenital CMV infection is one of the most important causes of hearing loss in young children, second only to genetic mutations, and is potentially preventable.

  2. Early age conductive hearing loss causes audiogenic seizure and hyperacusis behavior.

    Science.gov (United States)

    Sun, Wei; Manohar, Senthilvelan; Jayaram, Aditi; Kumaraguru, Anand; Fu, Qiang; Li, Ji; Allman, Brian

    2011-12-01

    Recent clinical reports found a high incidence of recurrent otitis media in children suffering hyperacusis, a marked intolerance to an otherwise ordinary environmental sound. However, it is unclear whether the conductive hearing loss caused by otitis media in early age will affect sound tolerance later in life. Thus, we have tested the effects of tympanic membrane (TM) damage at an early age on sound perception development in rats. Two weeks after the TM perforation, more than 80% of the rats showed audiogenic seizure (AGS) when exposed to loud sound (120 dB SPL white noise, hearing loss recovered. The TM damaged rats also showed significantly enhanced acoustic startle responses compared to the rats without TM damage. These results suggest that early age conductive hearing loss may cause an impaired sound tolerance during development. In addition, the AGS can be suppressed by the treatment of vigabatrin, acute injections (250 mg/kg) or oral intakes (60 mg/kg/day for 7 days), an antiepileptic drug that inhibits the catabolism of GABA. c-Fos staining showed a strong staining in the inferior colliculus (IC) in the TM damaged rats, not in the control rats, after exposed to loud sound, indicating a hyper-excitability in the IC during AGS. These results indicate that early age conductive hearing loss can impair sound tolerance by reducing GABA inhibition in the IC, which may be related to hyperacusis seen in children with otitis media. Published by Elsevier B.V.

  3. Causes of severe visual impairment and blindness in students in schools for the blind in Northwest Ethiopia.

    Science.gov (United States)

    Asferaw, Mulusew; Woodruff, Geoffrey; Gilbert, Clare

    2017-01-01

    To determine the causes of severe visual impairment and blindness (SVI/BL) among students in schools for the blind in Northwest Ethiopia and to identify preventable and treatable causes. Students attending nine schools for the blind in Northwest Ethiopia were examined and causes assigned using the standard WHO record form for children with blindness and low vision in May and June 2015. 383 students were examined, 357 (93%) of whom were severely visually impaired or blind (blind and four were SVI, total 104. The major anatomical site of visual loss among those 0-15 years was cornea/phthisis (47.1%), usually due to measles and vitamin A deficiency, followed by whole globe (22.1%), lens (9.6%) and uvea (8.7%). Among students aged 16 years and above, corneal/phthisis (76.3%) was the major anatomical cause, followed by lens (6.3%), whole globe (4.7%), uvea (3.6%) and optic nerve (3.2%). The leading underlying aetiology among students aged blindness, mainly as the result of measles and vitamin A deficiency, is still a public health problem in Northwest Ethiopia, and this has not changed as observed in other low-income countries. More than three-fourth of causes of SVI/BL in students in schools for the blind are potentially avoidable, with measles/vitamin A deficiency and cataract being the leading causes.

  4. Cytomegalovirus (CMV) Infection Causes Degeneration of Cochlear Vasculature and Hearing Loss in a Mouse Model.

    Science.gov (United States)

    Carraro, Mattia; Almishaal, Ali; Hillas, Elaine; Firpo, Matthew; Park, Albert; Harrison, Robert V

    2017-04-01

    Cytomegalovirus (CMV) infection is one of the most common causes of congenital hearing loss in children. We have used a murine model of CMV infection to reveal functional and structural cochlear pathogenesis. The cerebral cortex of Balb/c mice (Mus musculus) was inoculated with 2000 pfu (plaque forming units) of murine CMV on postnatal day 3. At 6 weeks of age, cochlear function was monitored using auditory brainstem response (ABR) and distortion product otoacoustic emission (DPOAE) measures. Histological assessment of cochlear vasculature using a corrosion cast technique was made at 8 weeks. Vascular casts of mCMV-damaged cochleas, and those of untreated control animals, were examined using scanning electron microscopy. We find very large variations in the degree of vascular damage in animals given identical viral injections (2000 pfu). The primary lesion caused by CMV infection is to the stria vascularis and to the adjacent spiral limbus capillary network. Capillary beds of the spiral ligament are generally less affected. The initial vascular damage is found in the mid-apical turn and appears to progress to more basal cochlear regions. After viral migration to the inner ear, the stria vascularis is the primary affected structure. We suggest that initial auditory threshold losses may relate to the poor development or maintenance of the endocochlear potential caused by strial dysfunction. Our increased understanding of the pathogenesis of CMV-related hearing loss is important for defining methods for early detection and treatment.

  5. A case of fetal intestinal volvulus without malrotation causing severe anemia.

    Science.gov (United States)

    Nakagawa, Tomoko; Tachibana, Daisuke; Kitada, Kohei; Kurihara, Yasushi; Terada, Hiroyuki; Koyama, Masayasu; Sakae, Yukari; Morotomi, Yoshiki; Nomura, Shiho; Saito, Mika

    2015-01-01

    Fetal intestinal volvulus without malrotation is a rare, life-threatening disease. Left untreated, hemorrhage from necrotic bowel tissue will lead to severe fetal anemia and even intrauterine death. We encountered a case of fetal intestinal volvulus causing severe anemia, which was diagnosed postnatally and successfully treated with surgical intervention.

  6. A Case of Fetal Intestinal Volvulus without Malrotation Causing Severe Anemia

    Directory of Open Access Journals (Sweden)

    Tomoko Nakagawa

    2015-01-01

    Full Text Available Fetal intestinal volvulus without malrotation is a rare, life-threatening disease. Left untreated, hemorrhage from necrotic bowel tissue will lead to severe fetal anemia and even intrauterine death. We encountered a case of fetal intestinal volvulus causing severe anemia, which was diagnosed postnatally and successfully treated with surgical intervention.

  7. Human error as the root cause of severe accidents at nuclear reactors

    International Nuclear Information System (INIS)

    Kovács Zoltán; Rýdzi, Stanislav

    2017-01-01

    A root cause is a factor inducing an undesirable event. It is feasible for root causes to be eliminated through technological process improvements. Human error was the root cause of all severe accidents at nuclear power plants. The TMI accident was caused by a series of human errors. The Chernobyl disaster occurred after a badly performed test of the turbogenerator at a reactor with design deficiencies, and in addition, the operators ignored the safety principles and disabled the safety systems. At Fukushima the tsunami risk was underestimated and the project failed to consider the specific issues of the site. The paper describes the severe accidents and points out the human errors that caused them. Also, provisions that might have eliminated those severe accidents are suggested. The fact that each severe accident occurred on a different type of reactor is relevant – no severe accident ever occurred twice at the same reactor type. The lessons learnt from the severe accidents and the safety measures implemented on reactor units all over the world seem to be effective. (orig.)

  8. Severe Bone Loss induced by Orthodontic Elastic Separator: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    A E Vishwanath

    2013-01-01

    Full Text Available A displaced orthodontic elastic separator was proposed as being the source of a gingival abscess that progressed to severe bone loss and exfoliation in a healthy adolescent patient with sound periodontal status prior to commencement of orthodontic treatment. After 1 year of undergoing orthodontic treatment, the patient presented with dull pain and mobility in the left upper permanent molar for which there was no apparent etiology. On clinical examination, the patient had gingival inflammation, associated with a deep pocket and severe mobility (grade III in relation to the same teeth. Radiographic examination of an orthopantomogram and intraoral periapical radiography (IOPAR revealed a chronic periodontal abscess with severe necrosis of the periodontal ligament and severe alveolar bone loss. A radiopaque mass on the distal surface below the cementoenamel junction (CEJ was also observed. The patient was referred to the department of periodontics for assessment and appropriate treatment. On curettage, it was found that there was orthodontic elastic separator which was displaced subgingivally.

  9. High dietary sodium chloride causes further protein loss during head-down tilt bed rest (HDBR)

    Science.gov (United States)

    Buehlmeier, Judith; Frings-Meuthen, Petra; Baecker, Natalie; Stehle, Peter; Heer, Martina

    Human spaceflight is associated with a loss of body protein most likely caused by muscle degradation. Additionally astronauts tend towards a high dietary intake of sodium chloride (NaCl), which has recently been shown to induce low grade metabolic acidosis (Frings-Meuthen et al. JBMR, Epub 2007). In several patterns, e.g. chronical renal failure, metabolic acidosis is associated with protein catabolism. We therefore hypothesized that high dietary intake of NaCl enforces protein losses in HDBR, a model for physiological changes in microgravity (µG). Eight healthy male subjects (mean age 26.25 ± 3.5; mean body weight: 78.5 ± 4.1 kg) participated in a 14-day bed rest study in the metabolic ward of the DLR - Institute of Aerospace Medicine, Cologne, Germany. The study was carried out in a cross over design, consisting of two phases, each lasting 22 days (5 days adaptation, 14 days 6° HDBR and 3 days recovery). Both study phases were identical with respect to environmental conditions and study protocol. Subjects received an individually tailored, weight-maintaining diet containing 1.3 g protein/kg/day. The diet was identical in both study phases with the exception of NaClintake: Every subject received a low NaCl diet (0.7 mmol/kg/day) in one phase and a high NaCl diet (7.7 mmol/kg/day) in another one. Blood gas for analysis of acid-base balance was implemented at days 4 and 5 of adaptation, days 2, 5, 7, 10, 12, 14 of HDBR and days 2, 3 of recovery. Continuous urine collection started on the first day in the metabolic ward to analyze nitrogen excretion. Nitrogen balance was calculated from the difference between protein intake and urinary nitrogen excretion, determined by use of chemiluminescence (Grimble et al. JPEN, 1988). Plasma pH did not change significantly (p=0.285), but plasma bicarbonate and base excess decreased (p=0.0175; p=0.0093) with high NaCl intake in HDBR compared to the low NaCl diet. Nitrogen balance in HDBR was negative, as expected in

  10. Meal replacements as a weight loss tool in a population with severe mental illness.

    Science.gov (United States)

    Gelberg, Hollie A; Kwan, Crystal L; Mena, Shirley J; Erickson, Zachary D; Baker, Matthew R; Chamberlin, Valery; Nguyen, Charles; Rosen, Jennifer A; Shah, Chandresh; Ames, Donna

    2015-12-01

    Weight gain and worsening metabolic parameters are often side effects of antipsychotic medications used by individuals with severe mental illness. To address this, a randomized, controlled research study of a behavioral weight management program for individuals with severe mental illness was undertaken to assess its efficacy. Patients unable to meet weight loss goals during the first portion of the year-long study were given the option of using meal replacement shakes in an effort to assist with weight loss. Specific requirements for use of meal replacement shakes were specified in the study protocol; only five patients were able to use the shakes in accordance with the protocol and lose weight while improving metabolic parameters. Case studies of two subjects are presented, illustrating the challenges and obstacles they faced, as well as their successes. Taking responsibility for their own weight loss, remaining motivated through the end of the study, and incorporating the meal replacement shakes into a daily routine were factors found in common with these patients. Use of meal replacements shakes with this population may be effective. Published by Elsevier Ltd.

  11. "Loss of breath" as a cause of postoperative hypoxia and bradycardia in children submitted to tonsillectomy.

    Science.gov (United States)

    Moro, Eduardo Toshiyuki; Goulart, Alexandre Palmeira

    2015-01-01

    the "shortness of breath" or "breathing interruption" crisis can be considered a cause of hypoxia in childhood. It is characterized by the presence of a triggering factor followed by weeping and apnea in expiration accompanied by cyanosis or pallor. The sequence of events may include bradycardia, loss of consciousness, abnormal postural tone and even asystole. A review of the literature revealed only two reports of postoperative apnea caused by "shortness of breath". this article describes the case of a child with a history of "shortness of breath" undiagnosed before the adenotonsillectomy, but that represented the cause of episodes of hypoxemia and bradycardia in the postoperative period. the "shortness of breath" crisis should be considered as a possible cause of perioperative hypoxia in children, especially when there is a history suggestive of this problem. As some events may be accompanied by bradycardia, loss of consciousness, abnormal postural tone and even asystole, observation in a hospital setting should be considered. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

  12. An economic assessment of the health effects and crop yield losses caused by air pollution in mainland China.

    Science.gov (United States)

    Miao, Weijie; Huang, Xin; Song, Yu

    2017-06-01

    Air pollution is severe in China, and pollutants such as PM 2.5 and surface O 3 may cause major damage to human health and crops, respectively. Few studies have considered the health effects of PM 2.5 or the loss of crop yields due to surface O 3 using model-simulated air pollution data in China. We used gridded outputs from the WRF-Chem model, high resolution population data, and crop yield data to evaluate the effects on human health and crop yield in mainland China. Our results showed that outdoor PM 2.5 pollution was responsible for 1.70-1.99 million cases of all-cause mortality in 2006. The economic costs of these health effects were estimated to be 151.1-176.9 billion USD, of which 90% were attributed to mortality. The estimated crop yield losses for wheat, rice, maize, and soybean were approximately 9, 4.6, 0.44, and 0.34 million tons, respectively, resulting in economic losses of 3.4 billion USD. The total economic losses due to ambient air pollution were estimated to be 154.5-180.3 billion USD, accounting for approximately 5.7%-6.6% of the total GDP of China in 2006. Our results show that both population health and staple crop yields in China have been significantly affected by exposure to air pollution. Measures should be taken to reduce emissions, improve air quality, and mitigate the economic loss. Copyright © 2016. Published by Elsevier B.V.

  13. Pathogenic Features of Dysuria in Young Women with Secondary Amenorrhea Caused by Body Weight Loss.

    Science.gov (United States)

    Shelkovnikova, N V; Neimark, A I; Taranina, T S; Pichigina, A K; Molodyh, O P; Lushnikova, E L

    2016-12-01

    We examined 11 women aged 19-26 years (mean age 22.5±3.5 years) with secondary amenorrhea complaining frequent urination over 1.5 years and repeatedly, but unsuccessful treated for overactive bladder and chronic cystitis. The rare cause of sustained urination disorders in young female patients of reproductive age was established: development of secondary amenorrhea caused by weight loss ("cosmetic" amenorrhea) with subsequent estrogene deficit and urogenital atrophy. Morphological examination of the bladder mucosa, an important clue to the diagnosis, helps to identify the true cause of dysuria, urogenital atrophy of the bladder mucosa, in secondary ("cosmetic") amenorrhea, and determine future course of etiopathogenic treatment of sustained dysuria in young women. The treatment is often effective in case of proper and timely diagnosis and the absence of irreversible changes.

  14. Language Outcomes in Young Children with Mild to Severe Hearing Loss.

    Science.gov (United States)

    Tomblin, J Bruce; Harrison, Melody; Ambrose, Sophie E; Walker, Elizabeth A; Oleson, Jacob J; Moeller, Mary Pat

    2015-01-01

    This study examined the language outcomes of children with mild to severe hearing loss during the preschool years. The longitudinal design was leveraged to test whether language growth trajectories were associated with degree of hearing loss and whether aided hearing influenced language growth in a systematic manner. The study also explored the influence of the timing of hearing aid fitting and extent of use on children's language growth. Finally, the study tested the hypothesis that morphosyntax may be at particular risk due to the demands it places on the processing of fine details in the linguistic input. The full cohort of children in this study comprised 290 children who were hard of hearing (CHH) and 112 children with normal hearing who participated in the Outcomes of Children with Hearing Loss (OCHL) study between the ages of 2 and 6 years. CHH had a mean better-ear pure-tone average of 47.66 dB HL (SD = 13.35). All children received a comprehensive battery of language measures at annual intervals, including standardized tests, parent-report measures, and spontaneous and elicited language samples. Principal components analysis supported the use of a single composite language score for each of the age levels (2, 3, 4, 5, and 6 years). Measures of unaided (better-ear pure-tone average, speech intelligibility index) and aided (residualized speech intelligibility index) hearing were collected, along with parent-report measures of daily hearing aid use time. Mixed modeling procedures were applied to examine the rate of change (227 CHH; 94 children with normal hearing) in language ability over time in relation to (1) degree of hearing loss, (2) aided hearing, (3) age of hearing aid fit and duration of use, and (4) daily hearing aid use. Principal components analysis was also employed to examine factor loadings from spontaneous language samples and to test their correspondence with standardized measures. Multiple regression analysis was used to test for

  15. Mental stress as consequence and cause of vision loss: the dawn of psychosomatic ophthalmology for preventive and personalized medicine.

    Science.gov (United States)

    Sabel, Bernhard A; Wang, Jiaqi; Cárdenas-Morales, Lizbeth; Faiq, Muneeb; Heim, Christine

    2018-06-01

    The loss of vision after damage to the retina, optic nerve, or brain has often grave consequences in everyday life such as problems with recognizing faces, reading, or mobility. Because vision loss is considered to be irreversible and often progressive, patients experience continuous mental stress due to worries, anxiety, or fear with secondary consequences such as depression and social isolation. While prolonged mental stress is clearly a consequence of vision loss, it may also aggravate the situation. In fact, continuous stress and elevated cortisol levels negatively impact the eye and brain due to autonomous nervous system (sympathetic) imbalance and vascular dysregulation; hence stress may also be one of the major causes of visual system diseases such as glaucoma and optic neuropathy. Although stress is a known risk factor, its causal role in the development or progression of certain visual system disorders is not widely appreciated. This review of the literature discusses the relationship of stress and ophthalmological diseases. We conclude that stress is both consequence and cause of vision loss. This creates a vicious cycle of a downward spiral, in which initial vision loss creates stress which further accelerates vision loss, creating even more stress and so forth. This new psychosomatic perspective has several implications for clinical practice. Firstly, stress reduction and relaxation techniques (e.g., meditation, autogenic training, stress management training, and psychotherapy to learn to cope) should be recommended not only as complementary to traditional treatments of vision loss but possibly as preventive means to reduce progression of vision loss. Secondly, doctors should try their best to inculcate positivity and optimism in their patients while giving them the information the patients are entitled to, especially regarding the important value of stress reduction. In this way, the vicious cycle could be interrupted. More clinical studies are now

  16. Losses in electric motors caused by harmonics; Harmoniske overtoners betydning for tabene i elmotorer

    Energy Technology Data Exchange (ETDEWEB)

    Johansson, M. [Dansk Energi Analyse A/S, Glostrup (Denmark); Kehr, J.M. [ABB A/S, Skovlunde (Denmark); Hoejte Hansen, H. [Balslev A/S, Glostrup (Denmark)

    2012-03-15

    the motor. The results of the lab measurements correspond very well to the losses calculated. On this basis it is concluded that harmonic currents and voltages cause energy losses in induction motors directly supplied, but that the energy losses are fairly low at the levels of distortion, a THDU of up to 6 to 8 %, which occur in Danish industry. Motors, which are supplied through a frequency converter, are not influenced by the harmonics in the supply mains. The analysis of the motor losses shows that the losses from the load torque, caused by the 5., 11., 17. etc harmonics, are considerably lower than the (very small) current heat losses in the motor, which have been caused by the same harmonics. The analysis also shows that the current displacement in the motors reduces the currents and the losses from the higher harmonics. Considering losses consequently the lower harmonics and especially 5. and 7. harmonics are most important. (LN)

  17. Different clinical features of anaphylaxis according to cause and risk factors for severe reactions.

    Science.gov (United States)

    Kim, Sang-Yoon; Kim, Min-Hye; Cho, Young-Joo

    2018-01-01

    Anaphylaxis is a life-threatening allergic reaction. Several studies reported different anaphylactic reactions according to the causative substances. However, a comparison of anaphylaxis for each cause has not been done. This study was conducted to identify common causes of anaphylaxis, characteristics of anaphylactic reaction for each cause and to analyze the factors related to the severity of the reaction. Medical records of patients who visited the emergency room of Ewha Womans University Mokdong Hospital from March 2003 to April 2016 and diagnosed with anaphylactic shock were retrospectively reviewed. We compared the clinical features of anaphylaxis according to the cause. In addition, the severity of anaphylaxis was analyzed and contributing factors for severe anaphylaxis were reviewed. A total of 199 patients with anaphylaxis were analyzed. Food was the most common cause (49.7%), followed by drug reaction (36.2%), bee venom (10.1%), and unknown cause (4.0%). Cardiovascular symptoms of syncope and hypotension were more common in drug-induced anaphylaxis. The incidence of severe anaphylaxis was the highest in anaphylaxis due to drugs (54.2%). Urticaria and other skin symptoms were significantly more common in food-induced anaphylaxis. Risk factors for severe anaphylaxis included older age, male, and drug-induced one. Epinephrine treatment of anaphylaxis was done for 69.7% and 56.9% of patients with food-induced and drug-induced anaphylaxis, respectively. More severe anaphylaxis developed with drug treatment and in males. Low rate of epinephrine prescription was also observed. Male patients with drug induced anaphylaxis should be paid more attention. Copyright © 2017 Japanese Society of Allergology. Production and hosting by Elsevier B.V. All rights reserved.

  18. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    Science.gov (United States)

    Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef

    2004-01-01

    Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925

  19. A guinea pig model of selective severe high-frequency hearing loss.

    Science.gov (United States)

    Havenith, Sarah; Klis, Sjaak F L; Versnel, Huib; Grolman, Wilko

    2013-10-01

    Using an appropriate dose of an aminoglycoside antibiotic cotreated with a loop diuretic a guinea pig model of high-frequency loss can be obtained mimicking cochlear implant candidates with low-frequency residual hearing. We examined the stability of this model over time. A well-established method to create an animal model for profound deafness is cotreatment with an aminoglycoside antibiotic and a loop diuretic. Recent data indicated that reduction of the aminoglycoside dose might yield selective high-frequency hearing loss. Such a model is relevant for studies related to hybrid cochlear implant devices, for example, with respect to preservation of residual hearing. Guinea pigs received an electrode for chronic recording of compound action potentials to tones to assess thresholds. They were treated with a coadministration of kanamycin (200 mg/kg) and furosemide (100 mg/kg), after which, the animals were sacrificed for histologic analysis at 2, 4, or 7 weeks. After 2 to 7 weeks threshold shifts were greater than 50 dB for 8 to 16 kHz in 15 of 17 animals, whereas threshold shifts at 2 kHz or lower were less than 50 dB in 13 animals. Major threshold shifts occurred the first 2 to 4 days; subsequently, some spontaneous recovery occurred and, after 2-3 weeks thresholds, remained stable. Inner hair cell loss still progressed between 2 and 4 weeks in the most basal cochlear region; thereafter, hair cell loss was stable. An appropriate animal model for selective severe high-frequency hearing loss was obtained, which is stable at 4 weeks after ototoxic treatment.

  20. [IDENTIFICATION OF CAUSES OF EARLY PREGNANCY LOSSES ACCORDING TO HYSTOMORPHOLOGIC FEATURES].

    Science.gov (United States)

    Gotsiridze, K; Kintraia, N; Pailodze, M; Gogia, T; Tsaava, F

    2017-01-01

    Retrospective analysis of the early spontaneous abortions has been conducted (486 cases). Histomorphologic analysis of the curettage material contents erveledinvolutive-regressive developmental chsnges in 108 (22,28%) cases, in 370 cases (77.78%) pathologic changes, like inflammatory changes of deciduas and chorionic villis in 302 cases (80.2%), pathologic prematurity of chorionic vili in 48 cases (12.6%), hydatidiform mole in 28 cases (7.4%). As most cases of pregnancy loss has been reported at 7-9 weeks /172 cases/, we compared histomorphologic data revealed at 7-8 (71 cases) weeks to 5-6 (135 cases) and 10-12 weeks of gestation. Morphologic research data confimed, that at 7-8 weeks compared to 5-6 weeks leading reason ofpregnancy loss was inflammatory changes (OR-1,584), what can be cause of 110 pregnancy losses at 1000 pregnant women (AR-0.11). Data comparing7-9 weeks to 10-12 weeks pregnancy losses, confirm the priority of pathologic immaturity (OR-1,279) and hydatidiform mole (OR-1,557) and could be the risk of 100 cases of pregnancy termination at 1000 pregnant women (AR-0.10).Existing results are of great importance for the preconceptional preparation of women.

  1. An overall estimation of losses caused by diseases in the Brazilian fish farms.

    Science.gov (United States)

    Tavares-Dias, Marcos; Martins, Maurício Laterça

    2017-12-01

    Parasitic and infectious diseases are common in finfish, but are difficult to accurately estimate the economic impacts on the production in a country with large dimensions like Brazil. The aim of this study was to estimate the costs caused by economic losses of finfish due to mortality by diseases in Brazil. A model for estimating the costs related to parasitic and bacterial diseases in farmed fish and an estimative of these economic impacts are presented. We used official data of production and mortality of finfish for rough estimation of economic losses. The losses herein presented are related to direct and indirect economic costs for freshwater farmed fish, which were estimated in US$ 84 million per year. Finally, it was possible to establish by the first time an estimative of overall losses in finfish production in Brazil using data available from production. Therefore, this current estimative must help researchers and policy makers to approximate the economic costs of diseases for fish farming industry, as well as for developing of public policies on the control measures of diseases and priority research lines.

  2. Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

    Science.gov (United States)

    Bonafede, Lucas; Ficicioglu, Can H.; Serrano, Leona; Han, Grace; Morgan, Jessica I. W.; Mills, Monte D.; Forbes, Brian J.; Davidson, Stefanie L.; Binenbaum, Gil; Kaplan, Paige B.; Nichols, Charles W.; Verloo, Patrick; Leroy, Bart P.; Maguire, Albert M.; Aleman, Tomas S.

    2015-01-01

    Purpose To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease. Methods Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical coherence tomography (SD-OCT). Electroretinograms (ERGs) were performed in a subset of patients. Results Patients carried homozygous or compound heterozygote mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Late-onset patients had a normal exam. All early-onset patients showed a maculopathy; older subjects had a retina-wide degeneration (n = 4; >7 years of age). In general, retinal changes were first observed before 1 year of age and progressed within months to a well-established maculopathy. Pseudocolobomas were documented in three patients. Measurable visual acuities ranged from 20/200 to 20/540. Nystagmus was present in 8/11 patients; 5/6 patients had normal ERGs; 1/6 had reduced rod-mediated responses. Spectral-domain OCT showed macular thinning, with severe ganglion cell layer (GCL) and outer nuclear layer (ONL) loss. Inner retinal thickening was observed in areas of total GCL/ONL loss. A normal lamination pattern in the peripapillary nasal retina was often seen despite severe central and/or retina-wide disease. Conclusions Patients with early-onset cblC and MMACHC mutations showed an early-onset, unusually fast-progressing maculopathy with severe central ONL and GCL loss. An abnormally thickened inner retina supports a remodeling response to both photoreceptor and ganglion cell degeneration and/or an interference with normal development in early-onset cblC. PMID:26658511

  3. Craniopharyngioma causing bilateral vision loss 4 months after unremarkable magnetic resonance imaging of the brain

    Directory of Open Access Journals (Sweden)

    Rainy Betts

    2015-01-01

    Full Text Available A 65-year-old man developed bilateral vision loss 4 months after magnetic resonance imaging demonstrated no lesion in the vicinity of the optic chiasm, hypothalamus, and suprasellar tissues. Repeat computed tomography 3 months later showed a predominantly cystic mass of the suprasellar cistern with extension into the anterior third ventricle, which histologically was a craniopharyngioma. The clinical course of this case fuels the controversy whether craniopharyngiomas arise from embryonic rests or can be acquired. From a clinical perspective, it raises questions about when to obtain imaging studies dedicated to the chiasm and the appropriate interval in which a scan should be repeated to exclude structural causes of bilateral vision loss.

  4. The loss of efficiency caused by agents' uncoordinated routing in transport networks.

    Directory of Open Access Journals (Sweden)

    Zhongzhi Xu

    Full Text Available Large-scale daily commuting data were combined with detailed geographical information system (GIS data to analyze the loss of transport efficiency caused by drivers' uncoordinated routing in urban road networks. We used Price of Anarchy (POA to quantify the loss of transport efficiency and found that both volume and distribution of human mobility demand determine the POA. In order to reduce POA, a small number of highways require considerable decreases in traffic, and their neighboring arterial roads need to attract more traffic. The magnitude of the adjustment in traffic flow can be estimated using the fundamental measure traffic flow only, which is widely available and easy to collect. Surprisingly, the most congested roads or the roads with largest traffic flow were not those requiring the most reduction of traffic. This study can offer guidance for the optimal control of urban traffic and facilitate improvements in the efficiency of transport networks.

  5. The loss of efficiency caused by agents' uncoordinated routing in transport networks.

    Science.gov (United States)

    Xu, Zhongzhi; Sun, Li; Wang, Junjie; Wang, Pu

    2014-01-01

    Large-scale daily commuting data were combined with detailed geographical information system (GIS) data to analyze the loss of transport efficiency caused by drivers' uncoordinated routing in urban road networks. We used Price of Anarchy (POA) to quantify the loss of transport efficiency and found that both volume and distribution of human mobility demand determine the POA. In order to reduce POA, a small number of highways require considerable decreases in traffic, and their neighboring arterial roads need to attract more traffic. The magnitude of the adjustment in traffic flow can be estimated using the fundamental measure traffic flow only, which is widely available and easy to collect. Surprisingly, the most congested roads or the roads with largest traffic flow were not those requiring the most reduction of traffic. This study can offer guidance for the optimal control of urban traffic and facilitate improvements in the efficiency of transport networks.

  6. Diabetic macular oedema and visual loss: relationship to location, severity and duration

    DEFF Research Database (Denmark)

    Gardner, Thomas W; Larsen, Michael; Girach, Aniz

    2009-01-01

    Abstract. Purpose: To assess the relationship between visual acuity (VA) and diabetic macular oedema (DMO) in relation to the location of retinal thickening and the severity and duration of central macular thickening. Methods: Data from 584 eyes in 340 placebo-treated patients in the 3-years...... (Snellen equivalent = 20/125). Diabetic retinopathy and DMO status were assessed using stereo photographs. Results: Nearly one third of study eyes had foveal centre-involving DMO at the start of the trial. Sustained moderate visual loss was found in 36 eyes, most commonly associated with DMO at the centre...

  7. ["Loss of breath" as a cause of postoperative hypoxia and bradycardia in children submitted to tonsillectomy].

    Science.gov (United States)

    Moro, Eduardo Toshiyuki; Goulart, Alexandre Palmeira

    2015-01-01

    The "shortness of breath" or "breathing interruption" crisis can be considered a cause of hypoxia in childhood. It is characterized by the presence of a triggering factor followed by weeping and apnea in expiration accompanied by cyanosis or pallor. The sequence of events may include bradycardia, loss of consciousness, abnormal postural toneand even asystole. A review of the literature revealed only two reports of postoperative apneacaused by "shortness of breath". This article describes the case of a child with a history of "shortness of breath" undiagnosed before the adenotonsillectomy, but that represented the cause of episodes of hypoxemia and bradycardia in the postoperative period. the "shortness of breath" crisis should be considered as a possible cause of perioperative hypoxia in children, especially when there is a history suggestive of this problem. As some events may be accompanied by bradycardia, loss of consciousness, abnormal postural tone and even asystole, observation in a hospital setting should be considered. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  8. Value loss from weevil-caused defects in eastern white pine lumber

    Science.gov (United States)

    Myron D. Ostrander; Carl H. Stoltenberg

    1957-01-01

    Owners of eastern white pine stands suffer financially in several ways from attacks by the white-pine weevil (Pissodes strobi). Crooks, forks, and other weevil-caused tree-bole deformities increase bucking, logging, and sawing costs, and they reduce recoverable volumes. The injuries also reduce the average value of the lumber recovered. It is only with this reduction...

  9. Study on severe accident induced by large break loss of coolant accident for pressureized water reactor

    International Nuclear Information System (INIS)

    Zhang Longfei; Zhang Dafa; Wang Shaoming

    2007-01-01

    Using the best estimate computer code SCDAP/RELAP5/MOD3.2 and taking US Westinghouse corporation Surry nuclear power plant as the reference object, a typical three-loop pressurized water reactor severe accident calculation model was established and 25 cm large break loss of coolant accident (LBLOCA) in cold and hot leg of primary loop induced core melt accident was analyzed. The calculated results show that core melt progression is fast and most of the core material melt and relocated to the lower plenum. The lower head of reactor pressure vessel failed at an early time and the cold leg break is more severe than the hot leg break in primary loop during LBLOCA. (authors)

  10. Radiotherapy on the neck nodes predicts severe weight loss in patients with early stage laryngeal cancer

    International Nuclear Information System (INIS)

    Langius, Jacqueline A.E.; Doornaert, Patricia; Spreeuwenberg, Marieke D.; Langendijk, Johannes A.; Leemans, C. Rene; Schueren, Marian A.E. van Bokhorst-de van der

    2010-01-01

    Background and purpose: Although patients with early stage (T1/T2) laryngeal cancer (LC) are thought to have a low incidence of malnutrition, severe weight loss is observed in a subgroup of these patients during radiotherapy (RT). The objective of this study was to evaluate weight loss and nutrition-related symptoms in patients with T1/T2 LC during RT and to select predictive factors for early identification of malnourished patients. Methods: Of all patients with T1/T2 LC, who received primary RT between 1999 and 2007, the following characteristics were recorded: sex, age, TNM classification, tumour location, radiation schedule, performance status, quality of life, weight loss, and nutrition-related symptoms. The association between baseline characteristics and malnutrition (>5% weight loss during RT) was investigated by Cox regression analysis. Results: The study population consisted of 238 patients. During RT, 44% of patients developed malnutrition. Tumour location, TNM classification, RT on the neck nodes, RT dose, nausea/vomiting, pain, swallowing, senses problems, trouble with social eating, dry mouth and the use of painkillers were all significantly associated with malnutrition. In the multivariate analysis, RTs on both the neck nodes (HR 4.16, 95% CI 2.62-6.60) and dry mouth (HR 1.72, 95% CI 1.14-2.60) remained predictive. Nevertheless, RT on the neck nodes alone resulted in the best predictive model for malnutrition scores. Conclusions: Patients with early stage laryngeal cancer are at risk of malnutrition during radiotherapy. Radiotherapy on the neck nodes is the best predictor of malnutrition during radiotherapy. Therefore, we suggest to offer nutritional counselling to all the patients who receive nodal irradiation.

  11. Early Pregnancy Loss

    Science.gov (United States)

    ... go on to have successful pregnancies. Repeated pregnancy losses are rare. Testing and evaluation can be done ... find a cause if you have several pregnancy losses. Even if no cause is found, most couples ...

  12. Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy.

    Science.gov (United States)

    Batchelor, Clare L; Winder, Steve J

    2006-04-01

    The dystrophin-glycoprotein complex (DGC) can be considered as a specialized adhesion complex, linking the extracellular matrix to the actin cytoskeleton, primarily in muscle cells. Mutations in several components of the DGC lead to its partial or total loss, resulting in various forms of muscular dystrophy. These typically manifest as progressive wasting diseases with loss of muscle integrity. Debate is ongoing about the precise function of the DGC: initially a strictly mechanical role was proposed but it has been suggested that there is aberrant calcium handling in muscular dystrophy and, more recently, changes in MAP kinase and GTPase signalling have been implicated in the aetiology of the disease. Here, we discuss new and interesting developments in these aspects of DGC function and attempt to rationalize the mechanical, calcium and signalling hypotheses to provide a unifying hypothesis of the underlying process of muscular dystrophy.

  13. Progressive sensorineural hearing loss, subjective tinnitus and vertigo caused by elevated blood lipids.

    Science.gov (United States)

    Pulec, J L; Pulec, M B; Mendoza, I

    1997-10-01

    The otologist frequently sees patients with progressive sensorineural hearing loss, subjective aural tinnitus and vertigo with no apparent cause. Elevated blood lipids may be a cause of inner ear malfunction on a biochemical basis. To establish the true incidence of this condition, all new patients (4,251) seen during an eight-year period were evaluated; of these, 2,332 patients had complaints of inner ear disease. All had a complete neurotologic examination, appropriate audiometric and vestibular studies and imaging, and blood tests including lipid phenotype studies. Hyperlipoproteinemia was found in 120 patients (5.1%). Most patients were found to be overweight and had additional coexisting conditions such as diabetes mellitus. Treatment with vasodilators and a 500-calorie, high-protein, low-carbohydrate diet yielded improvement of symptoms in 83% of patients within five months of initiation of treatment.

  14. Frequency, severity and causes of unexpected allergic reactions to food: a systematic literature review.

    Science.gov (United States)

    Versluis, A; Knulst, A C; Kruizinga, A G; Michelsen, A; Houben, G F; Baumert, J L; van Os-Medendorp, H

    2015-02-01

    Food allergic patients have to deal with an avoidance diet. Confusing labelling terms or precautionary labels can result in misinterpretation and risk-taking behaviour. Even those patients that strictly adhere to their diet experience (sometimes severe) unexpected allergic reactions to food. The frequency, severity and causes of such reactions are unknown. The objective of this review was to describe the frequency, severity and causes of unexpected allergic reactions to food in food allergic patients aged > 12 years, in order to develop improved strategies to deal with their allergy. A systematic review was carried out by two researchers, in six electronic databases (CINAHL, Cochrane, EMBASE, Medline, Psychinfo and Scopus). The search was performed with keywords relating to the frequency, severity and causes of unexpected allergic reactions to food. This resulted in 24 studies which met the inclusion criteria; 18 observational and six qualitative studies. This review shows that knowledge about the frequency of unexpected reactions is limited. Peanut, nuts, egg, fruit/vegetables and milk are the main causal foods. Severe reactions and even fatalities occur. Most reactions take place at home, but a significant number also take place when eating at friends' houses or in restaurants. Labelling issues, but also attitude and risky behaviour of patients can attribute to unexpected reactions. We conclude that prospective studies are needed to get more insight in the frequency, severity, quantity of unintended allergen ingested and causes of unexpected allergic reactions to food, to be able to optimize strategies to support patients in dealing with their food allergy. Although the exact frequency is not known, unexpected reactions to food occur in a significant number of patients and can be severe. For clinical practice, this means that patient education and dietary instructions are necessary. © 2014 John Wiley & Sons Ltd.

  15. Bee moth (Galleria mellonella) allergic reactions are caused by several thermolabile antigens.

    Science.gov (United States)

    Villalta, D; Martelli, P; Mistrello, G; Roncarolo, D; Zanoni, D

    2004-09-01

    Exposure and contact with bee moth (Galleria mellonella) larvae (Gm) can cause an allergic reaction both in anglers and breeders. We described the case of an amateur fisherman who experienced an allergic reaction using Gm but not using heat-treated Gm (h-Gm) (mummies). The aim of this study was to demonstrate by immunoblotting and radioallergosorbent test (RAST)-inhibition experiments the loss of allergenic epitopes in h-Gm extracts. Galleria mellonella larvae and h-Gm were homogenized and extracted at 10% (w/v) in 0.5 M phosphate-buffered saline, pH 7.4 containing 0.5% NaN(3) for 16 h at 4 degrees C. Gm and h-Gm extracts were electrophoresed in a 10% polyacrylamide precast Nupage Bis-Tris gel at 180 mA for 1 h and the resolved proteins stained with 0.1% Coomassie brilliant blue and the molecular weight calculated. For the immunoblotting detection of allergenic components the resolved extracts were transferred onto a nitrocellulose membrane and incubated with the patient's serum. Bound specific-IgE was detected by peroxidase-conjugated anti-human IgE. RAST inhibition experiments were performed according to the Ceska method. The protein profile of Gm and h-Gm extracts resulted markedly different in number, intensity and the position of bands, indicating that heat-treatment modifies the chemical-physical characteristics of the protein contents. The Gm extract showed a strong-coloured band at 73 kDa and more than 20 components ranging from 12 to 133 kDa; h-Gm showed two main band at 77 and 38 kDa and about 15 faint bands between 20 and 133 kDa apparently without any correspondence to the bands present in the Gm extract. Immunoblotting with the patient's serum demonstrated several bands of reactivity with the Gm extract ranging from 20 to 100 kDa and no recognizable bands, but only a diffuse smear with h-Gm. When used in a RAST inhibition experiment the h-Gm extract demonstrated an inability to compete with the Gm one for the binding to patient's IgE serum. The h

  16. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

    NARCIS (Netherlands)

    Michot, Caroline; Hubert, Laurence; Brivet, Michèle; de Meirleir, Linda; Valayannopoulos, Vassili; Müller-Felber, Wolfgang; Venkateswaran, Ramesh; Ogier, Hélène; Desguerre, Isabelle; Altuzarra, Cécilia; Thompson, Elizabeth; Smitka, Martin; Huebner, Angela; Husson, Marie; Horvath, Rita; Chinnery, Patrick; Vaz, Frederic M.; Munnich, Arnold; Elpeleg, Orly; Delahodde, Agnès; de Keyzer, Yves; de Lonlay, Pascale

    2010-01-01

    Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid

  17. Measuring welfare loss caused by air pollution in Europe: A CGE analysis

    International Nuclear Information System (INIS)

    Nam, Kyung-Min; Selin, Noelle E.; Reilly, John M.; Paltsev, Sergey

    2010-01-01

    To evaluate the socio-economic impacts of air pollution, we develop an integrated approach based on computable general equilibrium (CGE). Applying our approach to 18 western European countries shows that even there, where air quality is relatively high compared with other parts of the world, health-related damages caused by air pollution may be substantial. We estimate that as of 2005, Europe experienced an annual loss in consumption of about 220 billion Euro in year 2000 prices (about 3% of total consumption) with a range based on 95% high and low epidemiological response functions of 107-335 billion Euro and a total welfare loss of about 370 billion Euro (range of 209-550) including both consumption and broader welfare losses (around 2% of welfare level) due to the accumulated effects of three decades of air pollution in Europe. In addition, we estimate that a set of air quality improvement policy scenarios as proposed in the 2005 CAFE program would bring 18 European countries as a whole a welfare gain of 37-49 billion Euro (year 2000 prices) in year 2020 alone.

  18. Measuring welfare loss caused by air pollution in Europe. A CGE analysis

    Energy Technology Data Exchange (ETDEWEB)

    Nam, Kyung-Min [Joint Program on the Science and Policy of Global Change, Massachusetts Institute of Technology, Cambridge (United States); Department of Urban Studies and Planning, Massachusetts Institute of Technology, Cambridge (United States); Selin, Noelle E. [Joint Program on the Science and Policy of Global Change, Massachusetts Institute of Technology, Cambridge (United States); Engineering Systems Division and Department of Earth, Atmospheric and Planetary Sciences, Massachusetts Institute of Technology, Cambridge (United States); Reilly, John M.; Paltsev, Sergey [Joint Program on the Science and Policy of Global Change, Massachusetts Institute of Technology, Cambridge (United States)

    2010-09-15

    To evaluate the socio-economic impacts of air pollution, we develop an integrated approach based on computable general equilibrium (CGE). Applying our approach to 18 western European countries shows that even there, where air quality is relatively high compared with other parts of the world, health-related damages caused by air pollution may be substantial. We estimate that as of 2005, Europe experienced an annual loss in consumption of about 220 billion Euro in year 2000 prices (about 3% of total consumption) with a range based on 95% high and low epidemiological response functions of 107-335 billion Euro and a total welfare loss of about 370 billion Euro (range of 209-550) including both consumption and broader welfare losses (around 2% of welfare level) due to the accumulated effects of three decades of air pollution in Europe. In addition, we estimate that a set of air quality improvement policy scenarios as proposed in the 2005 CAFE program would bring 18 European countries as a whole a welfare gain of 37-49 billion Euro (year 2000 prices) in year 2020 alone. (author)

  19. Loss of keratin K2 expression causes aberrant aggregation of K10, hyperkeratosis, and inflammation.

    Science.gov (United States)

    Fischer, Heinz; Langbein, Lutz; Reichelt, Julia; Praetzel-Wunder, Silke; Buchberger, Maria; Ghannadan, Minoo; Tschachler, Erwin; Eckhart, Leopold

    2014-10-01

    Keratin K2 is one of the most abundant structural proteins of the epidermis; however, its biological significance has remained elusive. Here we show that suprabasal type II keratins, K1 and K2, are expressed in a mutually exclusive manner at different body sites of the mouse, with K2 being confined to the ear, sole, and tail skin. Deletion of K2 caused acanthosis and hyperkeratosis of the ear and the tail epidermis, corneocyte fragility, increased transepidermal water loss, and local inflammation in the ear skin. The loss of K2 was partially compensated by upregulation of K1 expression. However, a significant portion of K2-deficient suprabasal keratinocytes lacked a regular cytoskeleton and developed massive aggregates of the type I keratin, K10. Aggregate formation, but not hyperkeratosis, was suppressed by the deletion of both K2 and K10, whereas deletion of K10 alone caused clumping of K2 in ear skin. Taken together, this study demonstrates that K2 is a necessary and sufficient binding partner of K10 at distinct body sites of the mouse and that unbalanced expression of these keratins results in aggregate formation.

  20. Mechanisms causing reduced Arctic sea ice loss in a coupled climate model

    Directory of Open Access Journals (Sweden)

    A. E. West

    2013-03-01

    Full Text Available The fully coupled climate model HadGEM1 produces one of the most accurate simulations of the historical record of Arctic sea ice seen in the IPCC AR4 multi-model ensemble. In this study, we examine projections of sea ice decline out to 2030, produced by two ensembles of HadGEM1 with natural and anthropogenic forcings included. These ensembles project a significant slowing of the rate of ice loss to occur after 2010, with some integrations even simulating a small increase in ice area. We use an energy budget of the Arctic to examine the causes of this slowdown. A negative feedback effect by which rapid reductions in ice thickness north of Greenland reduce ice export is found to play a major role. A slight reduction in ocean-to-ice heat flux in the relevant period, caused by changes in the meridional overturning circulation (MOC and subpolar gyre in some integrations, as well as freshening of the mixed layer driven by causes other than ice melt, is also found to play a part. Finally, we assess the likelihood of a slowdown occurring in the real world due to these causes.

  1. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    DEFF Research Database (Denmark)

    Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik

    2015-01-01

    disability, delayed speech development and sometimes ataxia. Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype....... They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels. These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing...

  2. Regional Variations in the Risk and Severity of Ciguatera Caused by Eating Moray Eels.

    Science.gov (United States)

    Chan, Thomas Y K

    2017-06-26

    Moray eels ( Gymnothorax species) from tropical waters have long been known to be high-risk species, and the consumption of particularly the viscera or ungutted eels can result in severe ciguatera (known as Gymnothorax or moray eel poisoning), characterized by prominent neurological features. In this review, the main objective was to describe the risk and severity of ciguatera caused by eating moray eels in different parts of the world. Moray eels can accumulate very high ciguatoxin (CTX) levels in the flesh and particularly the liver. Therefore, even the smaller ones can be toxic and the consumption of an average portion (particularly liver) can result in severe or fatal ciguatera. Moray eels (particularly when ungutted) must never be served in gatherings since they can cause mass poisoning because of their large sizes and high CTX levels. Apart from regulatory measures restricting or excluding access, the public should be repeatedly warned to avoid eating moray eels.

  3. Regional Variations in the Risk and Severity of Ciguatera Caused by Eating Moray Eels

    Directory of Open Access Journals (Sweden)

    Thomas Y. K. Chan

    2017-06-01

    Full Text Available Moray eels (Gymnothorax species from tropical waters have long been known to be high-risk species, and the consumption of particularly the viscera or ungutted eels can result in severe ciguatera (known as Gymnothorax or moray eel poisoning, characterized by prominent neurological features. In this review, the main objective was to describe the risk and severity of ciguatera caused by eating moray eels in different parts of the world. Moray eels can accumulate very high ciguatoxin (CTX levels in the flesh and particularly the liver. Therefore, even the smaller ones can be toxic and the consumption of an average portion (particularly liver can result in severe or fatal ciguatera. Moray eels (particularly when ungutted must never be served in gatherings since they can cause mass poisoning because of their large sizes and high CTX levels. Apart from regulatory measures restricting or excluding access, the public should be repeatedly warned to avoid eating moray eels.

  4. Regional Variations in the Risk and Severity of Ciguatera Caused by Eating Moray Eels

    Science.gov (United States)

    Chan, Thomas Y. K.

    2017-01-01

    Moray eels (Gymnothorax species) from tropical waters have long been known to be high-risk species, and the consumption of particularly the viscera or ungutted eels can result in severe ciguatera (known as Gymnothorax or moray eel poisoning), characterized by prominent neurological features. In this review, the main objective was to describe the risk and severity of ciguatera caused by eating moray eels in different parts of the world. Moray eels can accumulate very high ciguatoxin (CTX) levels in the flesh and particularly the liver. Therefore, even the smaller ones can be toxic and the consumption of an average portion (particularly liver) can result in severe or fatal ciguatera. Moray eels (particularly when ungutted) must never be served in gatherings since they can cause mass poisoning because of their large sizes and high CTX levels. Apart from regulatory measures restricting or excluding access, the public should be repeatedly warned to avoid eating moray eels. PMID:28672845

  5. [Cause analysis and management of severe dislocated or subluxated intraocular lenses in the capsular bag].

    Science.gov (United States)

    Wang, Wen-qing; Jia, Li-Li; Lu, Bin; Fang, Jian; Chen, Ying

    2006-05-01

    To analyze the causes of severe dislocated and subluxated intraocular lenses (IOL) in capsular bag and the relevancy with abnormal capsular constitution. The abnormality of capsular and the position of IOL were retrospectively analyzed by slit lamp and microscope in dilated pupil. Surgeries were performed in all of 31 cases in order to exchange or reposit the dislocated or subluxated lOL. Among 31 cases, there were 20 cases with the dislocated or subluxated IOL in the earlier postoperative period and 11 cases in the later postoperative period. The subluxated IOL in 5 cases (16.1%) were caused by the large rupture of the posterior capsular, and by the rupture of the posterior capsular in 9 cases (29.0%). A upward subluxated IOL developed in one case (3.2%) as the result of small rupture in the equater capsular. The subluxatd IOL in the anterior chamber in two cases (6.5%) was induced by the radial rupture of residual anterior capsular. The size of the IOLs in 2 cases were not matched to the diameter of the capsule bag. The dislocated IOL into the vitreous in 2 cases was caused by the rupture of the superior capsular. The subluxated IOL in 2 cases (6.5%) was caused by the zonal finers rupture due to trauma. The severe disfiguration of the IOL haptic was found in one case. The dislocated IOL in 6 cases (19.4%) was caused by asymmetric capsular shrinkage. A subluxated IOL in one case was resulted from the zonular defects with pseudoexfoliation syndrome. The postoperative corrected visual acuity was 0.5 - 1.0 in 24 eyes, 0.1 - 0.4 in 6 eyes, and 0.05 in one eye. There are several causes for the dislocated or subluxated IOL. The correction of the IOL position should depend on the cause for the dislocated or subluxated IOL.

  6. Loss of hfe function reverses impaired recognition memory caused by olfactory manganese exposure in mice.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2015-03-01

    Excessive manganese (Mn) in the brain promotes a variety of abnormal behaviors, including memory deficits, decreased motor skills and psychotic behavior resembling Parkinson's disease. Hereditary hemochromatosis (HH) is a prevalent genetic iron overload disorder worldwide. Dysfunction in HFE gene is the major cause of HH. Our previous study has demonstrated that olfactory Mn uptake is altered by HFE deficiency, suggesting that loss of HFE function could alter manganese-associated neurotoxicity. To test this hypothesis, Hfe-knockout (Hfe (-/-)) and wild-type (Hfe (+/+)) mice mice were intranasally-instilled with manganese chloride (MnCl2 5 mg/kg) or water daily for 3 weeks and examined for memory function. Olfactory Mn diminished both short-term recognition and spatial memory in Hfe (+/+) mice, as examined by novel object recognition task and Barnes maze test, respectively. Interestingly, Hfe (-/-) mice did not show impaired recognition memory caused by Mn exposure, suggesting a potential protective effect of Hfe deficiency against Mn-induced memory deficits. Since many of the neurotoxic effects of manganese are thought to result from increased oxidative stress, we quantified activities of anti-oxidant enzymes in the prefrontal cortex (PFC). Mn instillation decreased superoxide dismutase 1 (SOD1) activity in Hfe (+/+) mice, but not in Hfe (-/-) mice. In addition, Hfe deficiency up-regulated SOD1 and glutathione peroxidase activities. These results suggest a beneficial role of Hfe deficiency in attenuating Mn-induced oxidative stress in the PFC. Furthermore, Mn exposure reduced nicotinic acetylcholine receptor levels in the PFC, indicating that blunted acetylcholine signaling could contribute to impaired memory associated with intranasal manganese. Together, our model suggests that disrupted cholinergic system in the brain is involved in airborne Mn-induced memory deficits and loss of HFE function could in part prevent memory loss via a potential up-regulation of

  7. Hypercortisolemia is associated with severity of bone loss and depression in hypothalamic amenorrhea and anorexia nervosa.

    Science.gov (United States)

    Lawson, Elizabeth A; Donoho, Daniel; Miller, Karen K; Misra, Madhusmita; Meenaghan, Erinne; Lydecker, Janet; Wexler, Tamara; Herzog, David B; Klibanski, Anne

    2009-12-01

    Anorexia nervosa (AN) and functional hypothalamic amenorrhea (HA) are associated with low bone density, anxiety, and depression. Women with AN and HA have elevated cortisol levels. Significant hypercortisolemia, as in Cushing's disease, causes bone loss. It is unknown whether anxiety and depression and/or cortisol dysregulation contribute to low bone density in AN or HA. Our objective was to investigate whether hypercortisolemia is associated with bone loss and mood disturbance in women with HA and AN. We conducted a cross-sectional study in a clinical research center. We studied 52 women [21 healthy controls (HC), 13 normal-weight women with functional HA, and 18 amenorrheic women with AN]. Serum samples were measured every 20 min for 12 h overnight and pooled for average cortisol levels. Bone mineral density (BMD) was assessed by dual-energy x-ray absorptiometry (DXA) at anteroposterior and lateral spine and hip. Hamilton Rating Scales for Anxiety (HAM-A) and Depression (HAM-D) were administered. BMD was lower in AN and HA than HC at all sites and lower in AN than HA at the spine. On the HAM-D and HAM-A, AN scored higher than HA, and HA scored higher than HC. Cortisol levels were highest in AN, intermediate in HA, and lowest in HC. HAM-A and HAM-D scores were associated with decreased BMD. Cortisol levels were positively associated with HAM-A and HAM-D scores and negatively associated with BMD. Hypercortisolemia is a potential mediator of bone loss and mood disturbance in these disorders.

  8. A model on CME/Flare initiation: Loss of Equilibrium caused by mass loss of quiescent prominences

    Science.gov (United States)

    Miley, George; Chon Nam, Sok; Kim, Mun Song; Kim, Jik Su

    2015-08-01

    Coronal Mass Ejections (CMEs) model should give an answer to enough energy storage for giant bulk plasma into interplanetary space to escape against the sun’s gravitation and its explosive eruption. Advocates of ‘Mass Loading’ model (e.g. Low, B. 1996, SP, 167, 217) suggested a simple mechanism of CME initiation, the loss of mass from a prominence anchoring magnetic flux rope, but they did not associate the mass loss with the loss of equilibrium. The catastrophic loss of equilibrium model is considered as to be a prospective CME/Flare model to explain sudden eruption of magnetic flux systems. Isenberg, P. A., et al (1993, ApJ, 417, 368)developed ideal magnetohydrodynamic theory of the magnetic flux rope to show occurrence of catastrophic loss of equilibrium according to increasing magnetic flux transported into corona.We begin with extending their study including gravity on prominence’s material to obtain equilibrium curves in case of given mass parameters, which are the strengths of the gravitational force compared with the characteristic magnetic force. Furthermore, we study quasi-static evolution of the system including massive prominence flux rope and current sheet below it to obtain equilibrium curves of prominence’s height according to decreasing mass parameter in a properly fixed magnetic environment. The curves show equilibrium loss behaviors to imply that mass loss result in equilibrium loss. Released fractions of magnetic energy are greater than corresponding zero-mass case. This eruption mechanism is expected to be able to apply to the eruptions of quiescent prominences, which is located in relatively weak magnetic environment with 105 km of scale length and 10G of photospheric magnetic field.

  9. Rapid intestinal transit as a primary cause of severe chronic diarrhea in patients with amyloidosis.

    Science.gov (United States)

    Guirl, Michael J; Högenauer, Christoph; Santa Ana, Carol A; Porter, Jack L; Little, Katherine H; Stone, Marvin J; Fordtran, John S

    2003-10-01

    The cause of severe diarrhea in patients with systemic amyloidosis is obscure. We therefore performed pathophysiological studies in three such patients in an effort to determine the mechanism of amyloid diarrhea. Epithelial cell absorption rate of electrolytes was measured during steady state GI perfusion of a saline-mannitol solution. GI transit time of PEG and absorption of radiolabeled bile acid were measured simultaneously while subjects ingested three meals per day. To obtain a diarrhea control group for transit time and bile acid absorption, normal subjects were studied when they had diarrhea caused by ingestion of Milk of Magnesia (MOM). Diarrhea could not be explained by malabsorption of ingested nutrients, bacterial overgrowth, bile acid malabsorption, or epithelial cell malabsorption of electrolytes. However, 25% of polyethylene glycol (PEG) ingested with a standard meal was recovered in stool in 45 min, which is 10 times faster than in normal subjects with equally severe diarrhea caused by ingestion of MOM. All of the patients had autonomic neuropathy that remained unrecognized for 15-36 months after onset of chronic diarrhea; it seems likely that this was the cause of rapid transit. Severe chronic diarrhea in three patients with systemic amyloidosis was mediated by extremely rapid transit of chyme and digestive secretions through the intestine.

  10. Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome.

    Science.gov (United States)

    Ito, T; Nishio, A; Wangemann, P; Griffith, A J

    2015-12-03

    Hearing loss of patients with enlargement of the vestibular aqueduct (EVA) can fluctuate or progress, with overall downward progression. The most common detectable cause of EVA is mutations of SLC26A4. We previously described a transgenic Slc26a4-insufficient mouse model of EVA in which Slc26a4 expression is controlled by doxycycline administration. Mice that received doxycycline from conception until embryonic day 17.5 (DE17.5; doxycycline discontinued at embryonic day 17.5) had fluctuating hearing loss between 1 and 6 months of age with an overall downward progression after 6 months of age. In this study, we characterized the cochlear functional and structural changes underlying irreversible hearing loss in DE17.5 mice at 12 months of age. The endocochlear potential was decreased and inversely correlated with auditory brainstem response thresholds. The stria vascularis was thickened and edematous in ears with less severe hearing loss, and thinned and atrophic in ears with more severe hearing loss. There were pathologic changes in marginal cell morphology and gene expression that were not observed at 3 months. We conclude that strial dysfunction and degeneration are the primary causes of irreversible progressive hearing loss in our Slc26a4-insufficient mouse model of EVA. This model of primary strial atrophy may be used to explore the mechanisms of progressive hearing loss due to strial dysfunction. Published by Elsevier Ltd.

  11. Traumatic retropharyngeal emphysema as a cause for severe respiratory distress in a newborn

    International Nuclear Information System (INIS)

    Barlev, Dan M.; Nagourney, Beth A.; Saintonge, Ronald

    2003-01-01

    Traumatic injury to the pharynx or esophagus in a newborn from intubation or tube suctioning may have various presentations. Difficulty passing a gastric tube or feeding problems may erroneously suggest the diagnosis of esophageal atresia. Associated respiratory distress may be caused by pneumothorax or pleural effusion if the pleural space is entered. We report the case of a full-term newborn presenting with severe respiratory distress caused by a large retropharyngeal air collection resulting from hypopharyngeal perforation from prior intubation and suctioning. Chest abnormality, sufficient to account for the degree of respiratory distress, was not demonstrated. (orig.)

  12. Extracorporeal membrane oxygenation causes loss of intestinal epithelial barrier in the newborn piglet.

    Science.gov (United States)

    Kurundkar, Ashish R; Killingsworth, Cheryl R; McIlwain, R Britt; Timpa, Joseph G; Hartman, Yolanda E; He, Dongning; Karnatak, Rajendra K; Neel, Mary L; Clancy, John P; Anantharamaiah, G M; Maheshwari, Akhil

    2010-08-01

    Extracorporeal membrane oxygenation (ECMO) is an important life-support system used in neonates and young children with intractable cardiorespiratory failure. In this study, we used our porcine neonatal model of venoarterial ECMO to investigate whether ECMO causes gut barrier dysfunction. We subjected 3-wk-old previously healthy piglets to venoarterial ECMO for up to 8 h and evaluated gut mucosal permeability, bacterial translocation, plasma levels of bacterial products, and ultrastructural changes in gut epithelium. We also measured plasma lipopolysaccharide (LPS) levels in a small cohort of human neonates receiving ECMO. In our porcine model, ECMO caused a rapid increase in gut mucosal permeability within the first 2 h of treatment, leading to a 6- to 10-fold rise in circulating bacterial products. These changes in barrier function were associated with cytoskeletal condensation in epithelial cells, which was explained by phosphorylation of a myosin II regulatory light chain. In support of these findings, we also detected elevated plasma LPS levels in human neonates receiving ECMO, indicating a similar loss of gut barrier function in these infants. On the basis of these data, we conclude that ECMO is an independent cause of gut barrier dysfunction and bacterial translocation may be an important contributor to ECMO-related inflammation.

  13. Frequent complications and severe bone loss associated with the repiphysis expandable distal femoral prosthesis.

    Science.gov (United States)

    Cipriano, Cara A; Gruzinova, Irina S; Frank, Rachel M; Gitelis, Steven; Virkus, Walter W

    2015-03-01

    The treatment of choice for distal femur malignancies in skeletally immature patients remains controversial. An expandable endoprosthesis device (Repiphysis Limb Salvage System; Wright Medical Technology, Arlington, TN, USA) allows for limb preservation and noninvasive lengthening but has been associated with significant complications; however, the extent and implications of bone loss associated with this implant have not been reported. Our goals were to report (1) the 2-year minimum clinical outcomes after placement of the Repiphysis expandable prosthesis for pediatric distal femur malignancies; (2) the complications associated with this prosthesis; (3) the failure rate of this prosthesis; and (4) the revision alternatives available for salvage procedures. Between 2002 and 2010, one surgeon (SG) treated all skeletally immature patients (mean age, 10.1 years; range, 4.7-13.6 years) with distal femoral osteosarcoma using a Repiphysis expandable prosthesis. Of the 12 patients who met these criteria, two were excluded for death from disease before 2 years, and mean followup for the remaining 10 was 72 months (range, 26-119 months). Medical records were retrospectively reviewed for complications and clinical outcomes, as assessed by the Musculoskeletal Tumor Society (MSTS) scoring system. Radiographs at final followup were reviewed for bone loss and analyzed by the two senior authors (SG, WWV) to determine reconstruction options available for future revisions. MSTS scores averaged 67%, and we observed 37 implant-related complications requiring a total of 15 reoperations. Six patients underwent implant revisions with aseptic loosening being the predominant mode of failure; ultimately, four of these were converted to adult modular oncology prostheses, and two underwent total femoral replacements. Bone loss in this series was severe in terms of femoral length, cortical thinning, and metadiaphyseal compromise, and most patients will not have sufficient bone stock to permit

  14. Correlation between audiovestibular function tests and hearing outcomes in severe to profound sudden sensorineural hearing loss.

    Science.gov (United States)

    Wang, Chi-Te; Huang, Tsung-Wei; Kuo, Shih-Wei; Cheng, Po-Wen

    2009-02-01

    This study investigated whether audiovestibular function tests, namely auditory brain stem response (ABR) and vestibular-evoked myogenic potential (VEMP) tests were correlated to hearing outcomes after controlling the effects of other potential confounding factors in severe to profound sudden sensorineural hearing loss (SSHL). Eighty-eight patients with severe to profound SSHL were enrolled in this study. Pretreatment hearing levels, results of audiovestibular function tests, and final hearing outcomes were recorded from retrospective chart reviews. Other factors, including age, gender, delay of treatment, vertigo, diabetes mellitus, and hypertension, were collected as well. Comparative analysis between multiple variables and hearing outcomes was conducted using the cumulative logits model in overall subjects. Further, multivariate analysis of prognostic factors was conducted in the stratified groups of severe (70 dB HL 90 dB HL) SSHL. Multivariate analysis showed that pretreatment hearing levels, presence of vertigo, and results of ABR and VEMP testing were significant outcome predictors in the overall subjects. Stratification analysis demonstrated that both the presence of ABR and VEMP waveforms were significantly correlated with better hearing outcomes in the group of severe SSHL [ABR: adjusted odds ratio (aOR) = 14.7, 95% confidence interval (CI) = 1.78 to 122, p = 0.01; VEMP: aOR = 5.91, 95% CI = 1.18 to 29.5, p = 0.03], whereas the presence of vertigo was the only significant negative prognostic factor in the group of profound SSHL (aOR = 0.24, 95% CI = 0.06 to 0.95, p = 0.04). Other variables, including age, gender, diabetes mellitus, hypertension, and delay of treatment, were not significantly related to hearing outcomes in both groups (p > 0.05). A predictive hearing recovery table with the combined ABR and VEMP results was proposed for the group of severe SSHL. ABR and VEMP tests should be included in the battery of neurootological examinations in

  15. Mortality caused by intracranial bleeding in non-severe hemophilia A patients.

    Science.gov (United States)

    Loomans, J I; Eckhardt, C L; Reitter-Pfoertner, S E; Holmström, M; van Gorkom, B Laros; Leebeek, F W G; Santoro, C; Haya, S; Meijer, K; Nijziel, M R; van der Bom, J G; Fijnvandraat, K

    2017-06-01

    Essentials Data on bleeding-related causes of death in non-severe hemophilia A (HA) patients are scarce. Such data may provide new insights into areas of care that can be improved. Non-severe HA patients have an increased risk of dying from intracranial bleeding. This demonstrates the need for specialized care for non-severe HA patients. Background Non-severe hemophilia (factor VIII concentration [FVIII:C] of 2-40 IU dL -1 ) is characterized by a milder bleeding phenotype than severe hemophilia A. However, some patients with non-severe hemophilia A suffer from severe bleeding complications that may result in death. Data on bleeding-related causes of death, such as fatal intracranial bleeding, in non-severe patients are scarce. Such data may provide new insights into areas of care that can be improved. Aims To describe mortality rates, risk factors and comorbidities associated with fatal intracranial bleeding in non-severe hemophilia A patients. Methods We analyzed data from the INSIGHT study, an international cohort study of all non-severe hemophilia A patients treated with FVIII concentrates during the observation period between 1980 and 2010 in 34 participating centers across Europe and Australia. Clinical data and vital status were collected from 2709 patients. We report the standardized mortality rate for patients who suffered from fatal intracranial bleeding, using a general European male population as a control population. Results Twelve per cent of the 148 deceased patients in our cohort of 2709 patients died from intracranial bleeding. The mortality rate between 1996 and 2010 for all ages was 3.5-fold higher than that in the general population (95% confidence interval [CI] 2.0-5.8). Patients who died from intracranial bleeding mostly presented with mild hemophilia without clear comorbidities. Conclusion Non-severe hemophilia A patients have an increased risk of dying from intracranial bleeding in comparison with the general population. This demonstrates the

  16. Severe Hemorrhage from the Umbilical Cord at Birth: A Preventable Cause of Neonatal Shock

    OpenAIRE

    Singh, Neetu; Suresh, Gautham

    2013-01-01

    Posthemorrhagic anemia is a rare but important cause of anemia in neonates, second only to hemolytic anemia of newborn. Most cases of posthemorrhagic anemia are reported from fetomaternal hemorrhage or umbilical cord accidents in utero. This case report describes a preterm infant who developed severe anemia and shock immediately after delivery related to an acute hemorrhage through patent umbilical cord vessels secondary to a tear in the umbilical cord at the site of cord clamping. We believe...

  17. Case of severe intestinal complications caused by high dose-rate intracavitary irradiation for cervical cancer

    Energy Technology Data Exchange (ETDEWEB)

    Koga, Kenji; Nishikawa, Kiyoshi; Matsuki, Kazuhiko; Watanabe, Katsushi

    1987-02-01

    A 46-year-old woman with severe intestinal complication caused by high dose-rate intracavitary irradiation is reported. She received radiation treatment of stage IIb cervical cancer between July 24 and September 26, 1984: a dose of 2400 rad to a point A concurrently with 2000 rad to the parametrium following 4000 rad to the whole pelvis. Eight months later she developed diarrhea and bloody stool. Barium enema study revealed a stenosis at 20 to 25 cm from the anal ring and romanoscopy oozing coagula at the same site. On November 29, 1985 transverse colostomy was performed because of continuing bloody stool and abdominal pain. On January 30, 1986 resection of the ileum and ileostomy were done because of the ileum perforation located 26 cm apart from the ileum end. Some discussion on the causes of this complication are made, suggesting that short length of a tandem and deep location of ovoids influence its cause.

  18. ER Stress Causes Rapid Loss of Intestinal Epithelial Stemness through Activation of the Unfolded Protein Response

    Directory of Open Access Journals (Sweden)

    Jarom Heijmans

    2013-04-01

    Full Text Available Stem cells generate rapidly dividing transit-amplifying cells that have lost the capacity for self-renewal but cycle for a number of times until they exit the cell cycle and undergo terminal differentiation. We know very little of the type of signals that trigger the earliest steps of stem cell differentiation and mediate a stem cell to transit-amplifying cell transition. We show that in normal intestinal epithelium, endoplasmic reticulum (ER stress and activity of the unfolded protein response (UPR are induced at the transition from stem cell to transit-amplifying cell. Induction of ER stress causes loss of stemness in a Perk-eIF2α-dependent manner. Inhibition of Perk-eIF2α signaling results in stem cell accumulation in organoid culture of primary intestinal epithelium. Our findings show that the UPR plays an important role in the regulation of intestinal epithelial stem cell differentiation.

  19. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

    Science.gov (United States)

    Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Della Mina, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta

    2015-05-01

    The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be born died shortly after birth due to severe organs' malformations. The suspicion of VACTERL association was based on prenatal ultrasound assessment and postnatal features. Subsequent chromosome breakage analysis suggested the diagnosis of FA. Finally, by next-generation sequencing based on the analysis of the exome in one family and of a panel of Fanconi genes in the second one, we identified novel FANCL truncating mutations in both families. We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations. Our study emphasizes that the diagnosis of FA should be considered when VACTERL association is suspected. Furthermore, we show that loss-of-function mutations in FANCL result in a severe clinical phenotype characterized by early postnatal death. © 2015 WILEY PERIODICALS, INC.

  20. Impact of weight loss achieved through a multidisciplinary intervention on appetite in patients with severe obesity

    DEFF Research Database (Denmark)

    Coutinho, Silvia R; Rehfeld, Jens F; Holst, Jens J

    2018-01-01

    The impact of lifestyle-induced weight loss (WL) on appetite in patients with obesity remains controversial. This study aimed was to assess the short- and long-term impact of WL achieved by diet and exercise, on appetite in patients with obesity. Thirty-five (22 females) adults with severe obesity......), in the fasting and postprandial states, were measured at baseline (B), week 4 (W4), 1 and 2-years (and average values for all fasting and postprandial time points computed). BW was significantly reduced and VO2max (ml/kg/min) increased at all time points compared with B (3.5, 8.1 and 8.4 % WL and 7, 11 and 8...... compared with B. Average GLP-1 was reduced at W4 and CCK increased at 2y. After lifestyle-induced WL, patients with severe obesity will, therefore, have to deal with increased hunger in the long-term. In conclusion, sustained WL at 2y achieved with diet and exercise is associated with increased hunger...

  1. Root causes and impacts of severe accidents at large nuclear power plants.

    Science.gov (United States)

    Högberg, Lars

    2013-04-01

    The root causes and impacts of three severe accidents at large civilian nuclear power plants are reviewed: the Three Mile Island accident in 1979, the Chernobyl accident in 1986, and the Fukushima Daiichi accident in 2011. Impacts include health effects, evacuation of contaminated areas as well as cost estimates and impacts on energy policies and nuclear safety work in various countries. It is concluded that essential objectives for reactor safety work must be: (1) to prevent accidents from developing into severe core damage, even if they are initiated by very unlikely natural or man-made events, and, recognizing that accidents with severe core damage may nevertheless occur; (2) to prevent large-scale and long-lived ground contamination by limiting releases of radioactive nuclides such as cesium to less than about 100 TBq. To achieve these objectives the importance of maintaining high global standards of safety management and safety culture cannot be emphasized enough. All three severe accidents discussed in this paper had their root causes in system deficiencies indicative of poor safety management and poor safety culture in both the nuclear industry and government authorities.

  2. Root Causes and Impacts of Severe Accidents at Large Nuclear Power Plants

    International Nuclear Information System (INIS)

    Hoegberg, Lars

    2013-01-01

    The root causes and impacts of three severe accidents at large civilian nuclear power plants are reviewed: the Three Mile Island accident in 1979, the Chernobyl accident in 1986, and the Fukushima Daiichi accident in 2011. Impacts include health effects, evacuation of contaminated areas as well as cost estimates and impacts on energy policies and nuclear safety work in various countries. It is concluded that essential objectives for reactor safety work must be: (1) to prevent accidents from developing into severe core damage, even if they are initiated by very unlikely natural or man-made events, and, recognizing that accidents with severe core damage may nevertheless occur; (2) to prevent large-scale and long lived ground contamination by limiting releases of radioactive nuclides such as cesium to less than about 100 TBq. To achieve these objectives the importance of maintaining high global standards of safety management and safety culture cannot be emphasized enough. All three severe accidents discussed in this paper had their root causes in system deficiencies indicative of poor safety management and poor safety culture in both the nuclear industry and government authorities

  3. Root Causes and Impacts of Severe Accidents at Large Nuclear Power Plants

    Energy Technology Data Exchange (ETDEWEB)

    Hoegberg, Lars

    2013-04-15

    The root causes and impacts of three severe accidents at large civilian nuclear power plants are reviewed: the Three Mile Island accident in 1979, the Chernobyl accident in 1986, and the Fukushima Daiichi accident in 2011. Impacts include health effects, evacuation of contaminated areas as well as cost estimates and impacts on energy policies and nuclear safety work in various countries. It is concluded that essential objectives for reactor safety work must be: (1) to prevent accidents from developing into severe core damage, even if they are initiated by very unlikely natural or man-made events, and, recognizing that accidents with severe core damage may nevertheless occur; (2) to prevent large-scale and long lived ground contamination by limiting releases of radioactive nuclides such as cesium to less than about 100 TBq. To achieve these objectives the importance of maintaining high global standards of safety management and safety culture cannot be emphasized enough. All three severe accidents discussed in this paper had their root causes in system deficiencies indicative of poor safety management and poor safety culture in both the nuclear industry and government authorities.

  4. All-Cause and Acute Pancreatitis Health Care Costs in Patients With Severe Hypertriglyceridemia.

    Science.gov (United States)

    Rashid, Nazia; Sharma, Puza P; Scott, Ronald D; Lin, Kathy J; Toth, Peter P

    2017-01-01

    The aim of this study was to assess health care utilization and costs related to acute pancreatitis (AP) in patients with severe hypertriglyceridemia (sHTG) levels. Patients with sHTG levels 1000 mg/dL or higher were identified from January 1, 2007, to June 30, 2013. The first identified incident triglyceride level was labeled as index date. All-cause, AP-related health care visits, and mean total all-cause costs in patients with and without AP were compared during 12 months postindex. A generalized linear model regression was used to compare costs while controlling for patient characteristics and comorbidities. Five thousand five hundred fifty sHTG patients were identified, and 5.4% of these patients developed AP during postindex. Patients with AP had significantly (P < 0.05) more all-cause outpatient visits, hospitalizations, longer length of stays during the hospital visits, and emergency department visits versus patients without AP. Mean (SD) unadjusted all-cause health care costs in the 12 months postindex were $25,343 ($33,139) for patients with AP compared with $15,195 ($24,040) for patients with no AP. The regression showed annual all-cause costs were 49.9% higher (P < 0.01) for patients with AP versus without AP. Patients who developed AP were associated with higher costs; managing patients with sHTG at risk of developing AP may help reduce unnecessary costs.

  5. Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

    Science.gov (United States)

    Helbig, K L; Mroske, C; Moorthy, D; Sajan, S A; Velinov, M

    2017-10-01

    DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine-nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization. Dock3 knockout mice exhibit motor deficiencies with abnormal ataxic gait and impaired learning. We report 2 siblings with biallelic loss-of-function variants in DOCK3. Diagnostic whole-exome sequencing (WES) and chromosomal microarray were performed on a proband with severe developmental disability, hypotonia, and ataxic gait. Testing was also performed on the proband's similarly affected brother. A paternally inherited 458 kb deletion in chromosomal region 3p21.2 disrupting the DOCK3 gene was identified in both affected siblings. WES identified a nonsense variant c.382C>G (p.Gln128*) in the DOCK3 gene (NM_004947) on the maternal allele in both siblings. Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Abrupt fire regime change may cause landscape-wide loss of mature obligate seeder forests.

    Science.gov (United States)

    Bowman, David M J S; Murphy, Brett P; Neyland, Dominic L J; Williamson, Grant J; Prior, Lynda D

    2014-03-01

    Obligate seeder trees requiring high-severity fires to regenerate may be vulnerable to population collapse if fire frequency increases abruptly. We tested this proposition using a long-lived obligate seeding forest tree, alpine ash (Eucalyptus delegatensis), in the Australian Alps. Since 2002, 85% of the Alps bioregion has been burnt by several very large fires, tracking the regional trend of more frequent extreme fire weather. High-severity fires removed 25% of aboveground tree biomass, and switched fuel arrays from low loads of herbaceous and litter fuels to high loads of flammable shrubs and juvenile trees, priming regenerating stands for subsequent fires. Single high-severity fires caused adult mortality and triggered mass regeneration, but a second fire in quick succession killed 97% of the regenerating alpine ash. Our results indicate that without interventions to reduce fire severity, interactions between flammability of regenerating stands and increased extreme fire weather will eliminate much of the remaining mature alpine ash forest. © 2013 John Wiley & Sons Ltd.

  7. Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

    DEFF Research Database (Denmark)

    Clayton, Emma L.; Mancuso, Renzo; Nielsen, Troels Tolstrup

    2017-01-01

    Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. We report that transgenic mice expressing endogenous levels of mutant CHMP2B developed late-onset brain volume loss associated with frank neuronal loss and FTD-like c...

  8. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

    Science.gov (United States)

    Hallmann, Kerstin; Kudin, Alexei P; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S

    2016-02-01

    Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. The mutation, affecting the last nucleotide of intron 1, leads to aberrant splicing, a frame-shift in the highly conserved exon 2, and decreased amount of the COX8A transcript. The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. Stability and activity of complex IV could be rescued in the patient's fibroblasts by lentiviral expression of wild-type COX8A. Our findings demonstrate that COX8A is indispensable for function of human complex IV and its mutation causes human disease. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women.

    Science.gov (United States)

    Elhassan, Yasir S; Idkowiak, Jan; Smith, Karen; Asia, Miriam; Gleeson, Helena; Webster, Rachel; Arlt, Wiebke; O'Reilly, Michael W

    2018-03-01

    Androgen excess in women is predominantly due to underlying polycystic ovary syndrome (PCOS). However, there is a lack of clarity regarding patterns and severity of androgen excess that should be considered predictive of non-PCOS pathology. We examined the diagnostic utility of simultaneous measurement of serum dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4), and testosterone (T) to delineate biochemical signatures and cutoffs predictive of non-PCOS disorders in women with androgen excess. Retrospective review of all women undergoing serum androgen measurement at a large tertiary referral center between 2012 and 2016. Serum A4 and T were measured by tandem mass spectrometry and DHEAS by immunoassay. Patients with at least one increased serum androgen underwent phenotyping by clinical notes review. In 1205 women, DHEAS, A4, and T were measured simultaneously. PCOS was the most common diagnosis in premenopausal (89%) and postmenopausal women (29%). A4 was increased in all adrenocortical carcinoma (ACC) cases (n = 15) and T in all ovarian hyperthecosis (OHT) cases (n = 7); all but one case of congenital adrenal hyperplasia (CAH; n = 18) were identified by increased levels of A4 and/or T. In premenopausal women, CAH was a prevalent cause of severe A4 (59%) and T (43%) excess; severe DHEAS excess was predominantly due to PCOS (80%). In postmenopausal women, all cases of severe DHEAS and A4 excess were caused by ACC and severe T excess equally by ACC and OHT. Pattern and severity of androgen excess are important predictors of non-PCOS pathology and may be used to guide further investigations as appropriate.

  10. HYPERTENSIVE CHOROIDOPATHY AS AN UNCOMMON CAUSE S OF VISUAL LOSS IN PREGNANCY

    Directory of Open Access Journals (Sweden)

    Bijnya Birajita

    2015-08-01

    Full Text Available INTRODUCTION: HISTORY: A 30 year old lady in her 32 weeks gestation period was referred to our ophthalmology clinic with chief complaints of diminution of vision in both eyes for 4 months duration. Her medical history was suggestive of uncontrolled hypertension. On Ophthalmic evaluation she had best corrected visual acuity of 20/200 in both eyes with normal color vision. Her pupils were bilaterally equal in size and normally reacting to light. The intraocular pressure was within normal range and anterior segment evaluation was within normal limits. Dilated fundus evaluation revealed only arterio - venous crossing changes, mottled retina and resolving hard exudates in both eyes [Fig 1a, & 1 b]. The fundus picture could not explain the severity of vision loss in the patient which prompted us for further workup.

  11. Severe signal loss in diamond beam loss monitors in high particle rate environments by charge trapping in radiation-induced defects

    CERN Document Server

    Kassel, Florian; Dabrowski, Anne; de Boer, Wim

    2016-01-01

    The beam condition monitoring leakage (BCML) system is a beam monitoring device in the compact muon solenoid (CMS) experiment at the large hadron collider (LHC). As detectors 32 poly-crystalline (pCVD) diamond sensors are positioned in rings around the beam pipe. Here, high particle rates occur from the colliding beams scattering particles outside the beam pipe. These particles cause defects, which act as traps for the ionization, thus reducing the charge collection efficiency (CCE). However, the loss in CCE was much more severe than expected from low rate laboratory measurements and simulations, especially in single-crystalline (sCVD) diamonds, which have a low initial concentration of defects. The reason why in real experiments the CCE is much worse than in laboratory experiments is related to the ionization rate. At high particle rates the trapping rate of the ionization is so high compared with the detrapping rate, that space charge builds up. This space charge reduces locally the internal electric field,...

  12. Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

    Science.gov (United States)

    Carey, John C; Palumbos, Janice C

    2016-10-01

    Hearing loss represents the most common sensory disability of children. Remarkable advances in the identification of genes underlying nonsyndromic and syndromic hearing loss in just the last 2 decades have led to the ability to determine the specific genetic cause of hearing loss in many children. Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss. Using the knowledge of the etiology of hearing loss, the authors propose a diagnostic reasoning process for the assessment of a child in the pediatric setting. Second tier testing consists of the multiple gene panels using whole exome sequencing strategies, and is becoming available in some regions of the world including the US. Referral to medical genetics is always a consideration in a child with no explanation for the hearing loss and in families with questions about recurrence risk.

  13. Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain

    Directory of Open Access Journals (Sweden)

    Akihide Takeuchi

    2018-05-01

    Full Text Available Summary: Genes specifically expressed in neurons contain members with extended long introns. Longer genes present a problem with respect to fulfilment of gene length transcription, and evidence suggests that dysregulation of long genes is a mechanism underlying neurodegenerative and psychiatric disorders. Here, we report the discovery that RNA-binding protein Sfpq is a critical factor for maintaining transcriptional elongation of long genes. We demonstrate that Sfpq co-transcriptionally binds to long introns and is required for sustaining long-gene transcription by RNA polymerase II through mediating the interaction of cyclin-dependent kinase 9 with the elongation complex. Phenotypically, Sfpq disruption caused neuronal apoptosis in developing mouse brains. Expression analysis of Sfpq-regulated genes revealed specific downregulation of developmentally essential neuronal genes longer than 100 kb in Sfpq-disrupted brains; those genes are enriched in associations with neurodegenerative and psychiatric diseases. The identified molecular machinery yields directions for targeted investigations of the association between long-gene transcriptopathy and neuronal diseases. : It has been a long-standing question how mammalian neuronal cells achieve full gene length transcription of extra-long genes. Takeuchi et al. show that RNA-binding protein Sfpq sustains long-gene transcription through Pol II-CTD activation. Loss of Sfpq caused long-gene transcriptopathy, which could be the cause of neurodegenerative and psychiatric disorders. Keywords: RNA-binding protein, transcriptional regulation, RNA polymerase II, cyclin-dependent kinase 9, RBP/transcript-dependent elongation, long-gene transcriptotherapy, neuronal development, neurological and psychiatric diseases, long-gene diseases, long genopathies

  14. Loss of PTEN causes SHP2 activation, making lung cancer cells unresponsive to IFN-γ

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Chia-Ling [Translational Research Center, Taipei Medical University, Taipei 110, Taiwan (China); Chiang, Tzu-Hui; Tseng, Po-Chun [Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan (China); Wang, Yu-Chih [Department of Microbiology and Immunology, School of Medicine, College of Medicine, Taipei Medical University, Taipei 110, Taiwan (China); Lin, Chiou-Feng, E-mail: cflin2014@tmu.edu.tw [Department of Microbiology and Immunology, School of Medicine, College of Medicine, Taipei Medical University, Taipei 110, Taiwan (China); Graduate Institute of Medical Sciences, College of Medicine, Taipei Medical University, Taipei 110, Taiwan (China)

    2015-10-23

    Src homology-2 domain-containing phosphatase (SHP) 2, an oncogenic phosphatase, inhibits type II immune interferon (IFN)-γ signaling by subverting signal transducers and activators of transcription 1 tyrosine phosphorylation and activation. For cancer immunoediting, this study aimed to investigate the decrease of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a tumor suppressor protein, leading to cellular impairment of IFN-γ signaling. In comparison with human lung adenocarcinoma A549 cells, the natural PTEN loss in another human lung adenocarcinoma line, PC14PE6/AS2 cells, presents reduced responsiveness in IFN-γ-induced IFN regulatory factor 1 activation and CD54 expression. Artificially silencing PTEN expression in A549 cells also caused cells to be unresponsive to IFN-γ without affecting IFN-γ receptor expression. IFN-γ-induced inhibition of cell proliferation and cytotoxicity were demonstrated in A549 cells but were defective in PC14PE6/AS2 cells and in PTEN-deficient A549 cells. Aberrant activation of SHP2 by ROS was specifically shown in PC14PE6/AS2 cells and PTEN-deficient A549 cells. Inhibiting ROS and SHP2 rescued cellular responses to IFN-γ-induced cytotoxicity and inhibition of cell proliferation in PC14PE6/AS2 cells. These results demonstrate that a decrease in PTEN facilitates ROS/SHP2 signaling, causing lung cancer cells to become unresponsive to IFN-γ. - Highlights: • This study demonstrates that PTEN decrease causes cellular unresponsive to IFN-γ. • Lung cancer cells with PTEN deficiency show unresponsive to IFN-γ signaling. • PTEN decrease inhibits IFN-γ-induced CD54, cell proliferation inhibition, and cytotoxicity. • ROS-mediated SHP2 activation makes PTEN-deficient cells unresponsive to IFN-γ.

  15. Management of Children with Mild, Moderate, and Moderately Severe Sensorineural Hearing Loss.

    Science.gov (United States)

    Tharpe, Anne Marie; Gustafson, Samantha

    2015-12-01

    Any degree of hearing loss can have a negative impact on child development. The amount of impact is largely determined by the type, quality, and timeliness of intervention. Early identification and management of hearing loss is essential for minimizing the impact of hearing loss and ensuring that children can reach their cognitive, linguistic, educational, and social potential. Advances in hearing technology and broadening of candidacy for same, have resulted in improved outcomes for many children with hearing loss. Through ongoing hearing monitoring throughout childhood, children with congenital, late-onset, or progressive losses can receive timely management from interprofessional, collaborative teams. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Comprehensive Treatment of Severe Periodontal and Periimplant Bone Destruction Caused by Iatrogenic Factors

    Directory of Open Access Journals (Sweden)

    Gregor-Georg Zafiropoulos

    2018-01-01

    Full Text Available Dental implant success requires placement after periodontal therapy, with adequate bone volume, plaque control, primary stability, control of risk factors, and use of well-designed prostheses. This report describes the surgical and prosthetic management of a patient with severe iatrogenic periodontal/periimplant bone destruction. Methods. A 55-year-old female smoker with fixed partial dentures (FPDs supported on teeth and implants presented with oral pain, swelling, bleeding, and a 10-year history of multiple implant placements and implants/prosthesis failures/replacements. Radiographs showed severe bone loss, subgingival caries, and periapical lesions. All implants and teeth were removed except implants #4 and #10 which served to retain an interim maxillary restoration. Bone defects were covered with nonresorbable dPTFE membranes. In the mandible, three new implants were placed and loaded immediately with a bar-retained temporary denture. Results. Seven months postoperatively, the bone defects were regenerated, and three additional mandibular implants were placed. All mandibular implants were splinted and loaded with a removable overdenture. Conclusions. In this case, periimplant infection and tissue destruction resulted from the lack of periodontal treatment/maintenance and failure to use evidence-based surgical and loading protocols. Combination therapy resolved the disease and the patient's severe discomfort while providing immediate function and an aesthetic solution.

  17. Two Cases of Severe Combined Immunodeficiency Caused By Adenosine Deaminase Deficiency

    Directory of Open Access Journals (Sweden)

    Turkan Patiroglu

    2014-08-01

    Full Text Available Severe Combined Immune Deficiency (SCID is a primary immune deficiency disorder manifested with severe infections upon first months of life, which is characterized by diverse genetic defects in T and B lymphocyte functions and occasionally in NK cells. ADA deficiency is a form of SCID progressing with severe lymphopenia and immune deficiency caused by toxic metabolites of ADA. Bone marrow transplantation (BMT is the only curative treatment although prophylactic anti-microbial therapy, intravenous immunoglobulin (IVIG and enzyme replacement can achieve transient improvements. Early diagnosis before development of severe infections and organ injury and referral to pediatric immunology clinics will make considerable contributions to prognosis. Here, we presented 2 cousins with SCID who had positive family history with deceased sibling; presented with tanning at skin, severe neonatal infections and Q246X (c736C>T non-sense mutation in exon 8 in ADA gene  in order to emphasize this rare mutation and pediatric emergencies associated with this disorder.

  18. Phenomenological uncertainty analysis of containment building pressure load caused by severe accident sequences

    International Nuclear Information System (INIS)

    Park, S.Y.; Ahn, K.I.

    2014-01-01

    Highlights: • Phenomenological uncertainty analysis has been applied to level 2 PSA. • The methodology provides an alternative to simple deterministic analyses and sensitivity studies. • A realistic evaluation provides a more complete characterization of risks. • Uncertain parameters of MAAP code for the early containment failure were identified. - Abstract: This paper illustrates an application of a severe accident analysis code, MAAP, to the uncertainty evaluation of early containment failure scenarios employed in the containment event tree (CET) model of a reference plant. An uncertainty analysis of containment pressure behavior during severe accidents has been performed for an optimum assessment of an early containment failure model. The present application is mainly focused on determining an estimate of the containment building pressure load caused by severe accident sequences of a nuclear power plant. Key modeling parameters and phenomenological models employed for the present uncertainty analysis are closely related to the in-vessel hydrogen generation, direct containment heating, and gas combustion. The basic approach of this methodology is to (1) develop severe accident scenarios for which containment pressure loads should be performed based on a level 2 PSA, (2) identify severe accident phenomena relevant to an early containment failure, (3) identify the MAAP input parameters, sensitivity coefficients, and modeling options that describe or influence the early containment failure phenomena, (4) prescribe the likelihood descriptions of the potential range of these parameters, and (5) evaluate the code predictions using a number of random combinations of parameter inputs sampled from the likelihood distributions

  19. Impact of socioeconomic deprivation on rate and cause of death in severe mental illness.

    Science.gov (United States)

    Martin, Julie Langan; McLean, Gary; Park, John; Martin, Daniel J; Connolly, Moira; Mercer, Stewart W; Smith, Daniel J

    2014-09-12

    Socioeconomic status has important associations with disease-specific mortality in the general population. Although individuals with Severe Mental Illnesses (SMI) experience significant premature mortality, the relationship between socioeconomic status and mortality in this group remains under investigated. We aimed to assess the impact of socioeconomic status on rate and cause of death in individuals with SMI (schizophrenia and bipolar disorder) relative to the local (Glasgow) and wider (Scottish) populations. Cause and age of death during 2006-2010 inclusive for individuals with schizophrenia or bipolar disorder registered on the Glasgow Psychosis Clinical Information System (PsyCIS) were obtained by linkage to the Scottish General Register Office (GRO). Rate and cause of death by socioeconomic status, measured by Scottish Index of Multiple Deprivation (SIMD), were compared to the Glasgow and Scottish populations. Death rates were higher in people with SMI across all socioeconomic quintiles compared to the Glasgow and Scottish populations, and persisted when suicide was excluded. Differences were largest in the most deprived quintile (794.6 per 10,000 population vs. 274.7 and 252.4 for Glasgow and Scotland respectively). Cause of death varied by socioeconomic status. For those living in the most deprived quintile, higher drug-related deaths occurred in those with SMI compared to local Glasgow and wider Scottish population rates (12.3% vs. 5.9%, p = socioeconomic quintiles compared to the Glasgow and Scottish populations but was most marked in the most deprived quintiles when suicide was excluded as a cause of death. Further work assessing the impact of socioeconomic status on specific causes of premature mortality in SMI is needed.

  20. Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

    Science.gov (United States)

    Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

    2014-12-01

    We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

  1. Successful Immunoglobulin Treatment in Severe Cryptogenic Organizing Pneumonia Caused by Dermatomyositis

    Directory of Open Access Journals (Sweden)

    Dong Hoon Lee

    2015-08-01

    Full Text Available In connective tissue diseases, autoantibodies cause pulmonary interstitial inflammation and fibrosis, and patients require treatment with an immunosuppressive agent such as a steroid. Dermatomyositis is an incurable, uncommon form of connective tissue disease that occasionally causes diffuse pulmonary inflammation leading to acute severe respiratory failure. In such cases, the prognosis is very poor despite treatment with high-dose steroid. In the present case, a 46-year-old man was admitted to our hospital with dyspnea. He was diagnosed with dermatomyositis combined with cryptogenic organizing pneumonia (COP with respiratory failure and underwent treatment with steroid and an immunosuppressive agent, but the COP was not improved. However, the respiratory failure did improve after treatment with intravenous immunoglobulin, which therefore can be considered a treatment option in cases where steroids and immunosuppressive agents are ineffective.

  2. Chronic central serous choroidopathy with severe visual loss in hyperopic microphthalmic identical twins

    Directory of Open Access Journals (Sweden)

    Fabry, Annelies

    2011-01-01

    Full Text Available Objective: To report chronic central serous choroidopathy with severe visual loss in hyperopic microphthalmic identical twins. Methods: The index patient was first examined in 1994, at age 31, and has been followed up closely for 17 years. He had repeated fluorescein and indocyanine green angiograms, OCT, ultrasound biometry, and recently also autofluorescence and EDI OCT. His twin brother was first examined in 2010, at age 47, and had a similar extensive exploration. Results: The index patient had a mean refractive error of +6 D OU and VA was 20/32++ in the RE and 20/200 in the LE in 1994. Vision slowly went down to 20/800+ in the RE and 20/600 in the LE in 2011. His twin brother has a mean refractive error of +6 D OU and VA 20/400 OU. Both have a short axial length of the eye, a thick choroid with dilated vessels, and central serous choroidopathy with cystic degeneration of the macula and retina in the posterior pole. Conclusions: We add to the reported complications of microphthalmos, chronic central serous choroidopathy.

  3. Loss of Melanopsin-Expressing Retinal Ganglion Cells in Severely Staged Glaucoma Patients

    DEFF Research Database (Denmark)

    Obara, Elisabeth Anne; Hannibal, Jens; Heegaard, Steffen

    2016-01-01

    Purpose: Multiple studies have shown overwhelming evidence supporting the impairment of melanopsin function due to glaucoma. However, few studies have been carried out in humans analyzing the histology of melanopsin-expressing retinal ganglion cells (mRGCs) in retinas with glaucoma. The aim...... of this study was to analyze the pattern of expression of mRGCs relative to RGCs in the normal retina and retinas harboring varying stages of glaucoma. Methods: Paraffin-embedded human donor eyes with glaucoma (n = 11) and age-matched controls (n = 10) were obtained from Department of Pathology at Rigshospital...... difference was observed in mRGC expression in the normal retinas and mild-staged retinas with glaucoma; the densities of mRGCs were 3.08 ± 0.47 and 3.00 ± 0.13 cell counts/mm2, respectively. However, the severely staged retinas with glaucoma showed a significant loss in mRGCs density, 1.09 ± 0.35 cell counts...

  4. Causes of non-adherence to therapeutic guidelines in severe community-acquired pneumonia

    Science.gov (United States)

    Gattarello, Simone; Ramírez, Sergio; Almarales, José Rafael; Borgatta, Bárbara; Lagunes, Leonel; Encina, Belén; Rello, Jordi

    2015-01-01

    Objective To assess the adherence to Infectious Disease Society of America/American Thoracic Society guidelines and the causes of lack of adherence during empirical antibiotic prescription in severe pneumonia in Latin America. Methods A clinical questionnaire was submitted to 36 physicians from Latin America; they were asked to indicate the empirical treatment in two fictitious cases of severe respiratory infection: community-acquired pneumonia and nosocomial pneumonia. Results In the case of communityacquired pneumonia, 11 prescriptions of 36 (30.6%) were compliant with international guidelines. The causes for non-compliant treatment were monotherapy (16.0%), the unnecessary prescription of broad-spectrum antibiotics (40.0%) and the use of non-recommended antibiotics (44.0%). In the case of nosocomial pneumonia, the rate of adherence to the Infectious Disease Society of America/American Thoracic Society guidelines was 2.8% (1 patient of 36). The reasons for lack of compliance were monotherapy (14.3%) and a lack of dual antibiotic coverage against Pseudomonas aeruginosa (85.7%). If monotherapy with an antipseudomonal antibiotic was considered adequate, the antibiotic treatment would be adequate in 100% of the total prescriptions. Conclusion The compliance rate with the Infectious Disease Society of America/American Thoracic Society guidelines in the community-acquired pneumonia scenario was 30.6%; the most frequent cause of lack of compliance was the indication of monotherapy. In the case of nosocomial pneumonia, the compliance rate with the guidelines was 2.8%, and the most important cause of non-adherence was lack of combined antipseudomonal therapy. If the use of monotherapy with an antipseudomonal antibiotic was considered the correct option, the treatment would be adequate in 100% of the prescriptions. PMID:25909312

  5. First Report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) Causing Severe Disease in Allomyrina dichotoma in Korea

    OpenAIRE

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6?wk. This viral disease spreads very fast ...

  6. Illness Severity and Work Productivity Loss Among Working Adults With Medically Attended Acute Respiratory Illnesses: US Influenza Vaccine Effectiveness Network 2012-2013.

    Science.gov (United States)

    Petrie, Joshua G; Cheng, Caroline; Malosh, Ryan E; VanWormer, Jeffrey J; Flannery, Brendan; Zimmerman, Richard K; Gaglani, Manjusha; Jackson, Michael L; King, Jennifer P; Nowalk, Mary Patricia; Benoit, Joyce; Robertson, Anne; Thaker, Swathi N; Monto, Arnold S; Ohmit, Suzanne E

    2016-02-15

    Influenza causes significant morbidity and mortality, with considerable economic costs, including lost work productivity. Influenza vaccines may reduce the economic burden through primary prevention of influenza and reduction in illness severity. We examined illness severity and work productivity loss among working adults with medically attended acute respiratory illnesses and compared outcomes for subjects with and without laboratory-confirmed influenza and by influenza vaccination status among subjects with influenza during the 2012-2013 influenza season. Illnesses laboratory-confirmed as influenza (ie, cases) were subjectively assessed as more severe than illnesses not caused by influenza (ie, noncases) based on multiple measures, including current health status at study enrollment (≤7 days from illness onset) and current activity and sleep quality status relative to usual. Influenza cases reported missing 45% more work hours (20.5 vs 15.0; P productivity as impeded to a greater degree (6.0 vs 5.4; P productivity loss were noted for vaccinated subjects. Influenza illnesses were more severe and resulted in more missed work hours and productivity loss than illnesses not confirmed as influenza. Modest reductions in illness severity for vaccinated cases were observed. These findings highlight the burden of influenza illnesses and illustrate the importance of laboratory confirmation of influenza outcomes in evaluations of vaccine effectiveness. © The Author 2015. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  7. Incidence, causes, severity and treatment of throat discomfort: a four-region online questionnaire survey.

    Science.gov (United States)

    Addey, Dilys; Shephard, Adrian

    2012-08-10

    Acute sore throat is commonly associated with viral infections. Consumers typically rely on over-the-counter treatments and other remedies to treat symptoms; however, limited information is available regarding consumer perceptions of sore throat or treatment needs. The aim of this study was to investigate perceptions of throat discomfort and how these influence attitudes and consumer behaviour with regard to treatment. Online consumer surveys were completed by participants invited by email between 2003 and 2004 in four markets: the UK, France, Poland, and Malaysia. The questionnaire consisted of 24 questions that covered key issues surrounding throat discomfort including incidence in the past 12 months, causes, severity, effects on functionality and quality of life, actions taken to relieve throat discomfort, the efficacy of these approaches and the reasons behind using specific products. In total, 6465 men and women aged ≥18 years were surveyed, identifying 3514 participants who had suffered throat discomfort/irritation in the past 12 months (response rate of 54%). These participants completed the full survey. The breakdown of throat discomfort sufferers was: UK, 912; France, 899; Poland, 871; Malaysia, 832. A high proportion of respondents experienced one or more instances of throat discomfort in the previous 12 months, with an overall incidence of 54%. Infections including the common cold/influenza and other bacteria/viruses were commonly perceived causes of throat discomfort (72% and 46%, respectively). Physical and environmental factors were also perceived to be causative, including airborne pollution (28%), smoking (23%), and air conditioning (31%). Symptoms perceived to be caused by an infection were associated with a higher degree of suffering (mean degree of suffering for bacteria/virus and common cold/influenza; 3.4 and 3.0, respectively). Medicinal products were used for all perceived causes, but more commonly for sore throats thought to be caused by

  8. Incidence, causes, severity and treatment of throat discomfort: a four-region online questionnaire survey

    Directory of Open Access Journals (Sweden)

    Addey Dilys

    2012-08-01

    Full Text Available Abstract Background Acute sore throat is commonly associated with viral infections. Consumers typically rely on over-the-counter treatments and other remedies to treat symptoms; however, limited information is available regarding consumer perceptions of sore throat or treatment needs. The aim of this study was to investigate perceptions of throat discomfort and how these influence attitudes and consumer behaviour with regard to treatment. Methods Online consumer surveys were completed by participants invited by email between 2003 and 2004 in four markets: the UK, France, Poland, and Malaysia. The questionnaire consisted of 24 questions that covered key issues surrounding throat discomfort including incidence in the past 12 months, causes, severity, effects on functionality and quality of life, actions taken to relieve throat discomfort, the efficacy of these approaches and the reasons behind using specific products. Results In total, 6465 men and women aged ≥18 years were surveyed, identifying 3514 participants who had suffered throat discomfort/irritation in the past 12 months (response rate of 54%. These participants completed the full survey. The breakdown of throat discomfort sufferers was: UK, 912; France, 899; Poland, 871; Malaysia, 832. A high proportion of respondents experienced one or more instances of throat discomfort in the previous 12 months, with an overall incidence of 54%. Infections including the common cold/influenza and other bacteria/viruses were commonly perceived causes of throat discomfort (72% and 46%, respectively. Physical and environmental factors were also perceived to be causative, including airborne pollution (28%, smoking (23%, and air conditioning (31%. Symptoms perceived to be caused by an infection were associated with a higher degree of suffering (mean degree of suffering for bacteria/virus and common cold/influenza; 3.4 and 3.0, respectively. Medicinal products were used for all perceived causes, but more

  9. Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

    Science.gov (United States)

    Alwadei, Ali H; Benini, Ruba; Mahmoud, Adel; Alasmari, Ali; Kamsteeg, Erik-Jan; Alfadhel, Majid

    2016-12-01

    Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found on chromosome 9p13.3 that codes for iporin, a ubiquitous protein with high expression in the brain that interacts with Rab proteins (GTPases implicated in intracellular protein trafficking). Although mutations in Rab proteins have been described as causing brain abnormalities and intellectual disability, until now no disease-causing mutations in RUSC2 have ever been reported in humans. We describe, to our knowledge for the first time, three patients with inherited homozygous nonsense mutations identified in RUSC2 on whole-exome sequencing. All three patients had central hypotonia, microcephaly, and moderate to severe intellectual disability. Two patients had additional features of early-onset epilepsy and absence of the splenium. This report adds to the ever-expanding landscape of genetic causes of intellectual disability and increases our understanding of the cellular processes underlying this important neurological entity. © 2016 Mac Keith Press.

  10. Evidence of increasing drought severity caused by temperature rise in southern Europe

    International Nuclear Information System (INIS)

    Vicente-Serrano, Sergio M; Lopez-Moreno, Juan-I; Lorenzo-Lacruz, Jorge; García-Ruiz, José M; Azorin-Molina, Cesar; Morán-Tejeda, Enrique; Revuelto, Jesús; Beguería, Santiago; Sanchez-Lorenzo, Arturo; Trigo, Ricardo; Coelho, Fatima; Espejo, Francisco

    2014-01-01

    We use high quality climate data from ground meteorological stations in the Iberian Peninsula (IP) and robust drought indices to confirm that drought severity has increased in the past five decades, as a consequence of greater atmospheric evaporative demand resulting from temperature rise. Increased drought severity is independent of the model used to quantify the reference evapotranspiration. We have also focused on drought impacts to drought-sensitive systems, such as river discharge, by analyzing streamflow data for 287 rivers in the IP, and found that hydrological drought frequency and severity have also increased in the past five decades in natural, regulated and highly regulated basins. Recent positive trend in the atmospheric water demand has had a direct influence on the temporal evolution of streamflows, clearly identified during the warm season, in which higher evapotranspiration rates are recorded. This pattern of increase in evaporative demand and greater drought severity is probably applicable to other semiarid regions of the world, including other Mediterranean areas, the Sahel, southern Australia and South Africa, and can be expected to increasingly compromise water supplies and cause political, social and economic tensions among regions in the near future. (paper)

  11. Spatial patterns of progressive brain volume loss after moderate-severe traumatic brain injury

    Science.gov (United States)

    Jolly, Amy; de Simoni, Sara; Bourke, Niall; Patel, Maneesh C; Scott, Gregory; Sharp, David J

    2018-01-01

    Abstract Traumatic brain injury leads to significant loss of brain volume, which continues into the chronic stage. This can be sensitively measured using volumetric analysis of MRI. Here we: (i) investigated longitudinal patterns of brain atrophy; (ii) tested whether atrophy is greatest in sulcal cortical regions; and (iii) showed how atrophy could be used to power intervention trials aimed at slowing neurodegeneration. In 61 patients with moderate-severe traumatic brain injury (mean age = 41.55 years ± 12.77) and 32 healthy controls (mean age = 34.22 years ± 10.29), cross-sectional and longitudinal (1-year follow-up) brain structure was assessed using voxel-based morphometry on T1-weighted scans. Longitudinal brain volume changes were characterized using a novel neuroimaging analysis pipeline that generates a Jacobian determinant metric, reflecting spatial warping between baseline and follow-up scans. Jacobian determinant values were summarized regionally and compared with clinical and neuropsychological measures. Patients with traumatic brain injury showed lower grey and white matter volume in multiple brain regions compared to controls at baseline. Atrophy over 1 year was pronounced following traumatic brain injury. Patients with traumatic brain injury lost a mean (± standard deviation) of 1.55% ± 2.19 of grey matter volume per year, 1.49% ± 2.20 of white matter volume or 1.51% ± 1.60 of whole brain volume. Healthy controls lost 0.55% ± 1.13 of grey matter volume and gained 0.26% ± 1.11 of white matter volume; equating to a 0.22% ± 0.83 reduction in whole brain volume. Atrophy was greatest in white matter, where the majority (84%) of regions were affected. This effect was independent of and substantially greater than that of ageing. Increased atrophy was also seen in cortical sulci compared to gyri. There was no relationship between atrophy and time since injury or age at baseline. Atrophy rates were related to memory performance at the end of the

  12. Traumatic brain injury causes an FK506-sensitive loss and an overgrowth of dendritic spines in rat forebrain.

    Science.gov (United States)

    Campbell, John N; Register, David; Churn, Severn B

    2012-01-20

    Traumatic brain injury (TBI) causes both an acute loss of tissue and a progressive injury through reactive processes such as excitotoxicity and inflammation. These processes may worsen neural dysfunction by altering neuronal circuitry beyond the focally-damaged tissue. One means of circuit alteration may involve dendritic spines, micron-sized protuberances of dendritic membrane that support most of the excitatory synapses in the brain. This study used a modified Golgi-Cox technique to track changes in spine density on the proximal dendrites of principal cells in rat forebrain regions. Spine density was assessed at 1 h, 24 h, and 1 week after a lateral fluid percussion TBI of moderate severity. At 1 h after TBI, no changes in spine density were observed in any of the brain regions examined. By 24 h after TBI, however, spine density had decreased in ipsilateral neocortex in layer II and III and dorsal dentate gyrus (dDG). This apparent loss of spines was prevented by a single, post-injury administration of the calcineurin inhibitor FK506. These results, together with those of a companion study, indicate an FK506-sensitive mechanism of dendritic spine loss in the TBI model. Furthermore, by 1 week after TBI, spine density had increased substantially above control levels, bilaterally in CA1 and CA3 and ipsilaterally in dDG. The apparent overgrowth of spines in CA1 is of particular interest, as it may explain previous reports of abnormal and potentially epileptogenic activity in this brain region.

  13. Transgenerational effects alleviate severe fecundity loss during ocean acidification in a ubiquitous planktonic copepod.

    Science.gov (United States)

    Thor, Peter; Dupont, Sam

    2015-06-01

    Ocean acidification (OA) caused by anthropogenic CO2 emission is projected for thousands of years to come, and significant effects are predicted for many marine organisms. While significant evolutionary responses are expected during such persistent environmental change, most studies consider only short-term effects. Little is known about the transgenerational effects of parental environments or natural selection on the capacity of populations to counter detrimental OA effects. In this study, six laboratory populations of the calanoid copepod Pseudocalanus acuspes were established at three different CO2 partial pressures (pCO2 of 400, 900 and 1550 μatm) and grown for two generations at these conditions. Our results show evidence of alleviation of OA effects as a result of transgenerational effects in P. acuspes. Second generation adults showed a 29% decrease in fecundity at 900 μatm CO2 compared to 400 μatm CO2 . This was accompanied by a 10% increase in metabolic rate indicative of metabolic stress. Reciprocal transplant tests demonstrated that this effect was reversible and the expression of phenotypic plasticity. Furthermore, these tests showed that at a pCO2 exceeding the natural range experienced by P. acuspes (1550 μatm), fecundity would have decreased by as much as 67% compared to at 400 μatm CO2 as a result of this plasticity. However, transgenerational effects partly reduced OA effects so that the loss of fecundity remained at a level comparable to that at 900 μatm CO2 . This also relieved the copepods from metabolic stress, and respiration rates were lower than at 900 μatm CO2 . These results highlight the importance of tests for transgenerational effects to avoid overestimation of the effects of OA. © 2014 The Authors. Global Change Biology Published by John Wiley & Sons Ltd.

  14. Prevalence and causes of vision loss in Central and South Asia: 1990-2010.

    Science.gov (United States)

    Jonas, Jost B; George, Ronnie; Asokan, Rashima; Flaxman, Seth R; Keeffe, Jill; Leasher, Janet; Naidoo, Kovin; Pesudovs, Konrad; Price, Holly; Vijaya, Lingam; White, Richard A; Wong, Tien Y; Resnikoff, Serge; Taylor, Hugh R; Bourne, Rupert R A

    2014-05-01

    To examine the prevalence, patterns and trends of vision impairment and its causes from 1990 to 2010 in Central and South Asia. Based on the Global Burden of Diseases Study 2010 and ongoing literature searches, we examined prevalence and causes of moderate and severe vision impairment (MSVI; presenting visual acuity Central Asia, the estimated age-standardised prevalence of blindness decreased from 0.4% (95% CI 0.3% to 0.6%) to 0.2% (95% CI 0.2% to 0.3%) and of MSVI from 3.0% (95% CI 1.9% to 4.7%) to 1.9% (95% CI 1.2% to 3.2%), and in South Asia blindness decreased from 1.7% (95% CI 1.4% to 2.1%) to 1.1% (95% CI 0.9% to 1.3%) and MSVI from 8.9% (95% CI 6.9% to 10.9%) to 6.4% (95% CI 5.2% to 8.2%). In 2010, 135 000 (95% CI 99,000 to 194,000) people were blind in Central Asia and 10,600,000 (95% CI 8,397,000 to 12,500,000) people in South Asia. MSVI was present in 1,178,000 (95% CI 772,000 to 2,243,000) people in the Central Asia, and in 71,600,000 (95% CI 57,600,000 to 92,600,000) people in South Asia. Women were generally more often affected than men. The leading causes of blindness (cataract) and MSVI (undercorrected refractive error) did not change from 1990 to 2010. The prevalence of blindness and MSVI in South Asia is still three times higher than in Central Asia and globally, with women generally more often affected than women. In both regions, cataract and undercorrected refractive error were major causes of blindness and MSVI.

  15. Neutrophil Extracellular Trap-Related Extracellular Histones Cause Vascular Necrosis in Severe GN.

    Science.gov (United States)

    Kumar, Santhosh V R; Kulkarni, Onkar P; Mulay, Shrikant R; Darisipudi, Murthy N; Romoli, Simone; Thomasova, Dana; Scherbaum, Christina R; Hohenstein, Bernd; Hugo, Christian; Müller, Susanna; Liapis, Helen; Anders, Hans-Joachim

    2015-10-01

    Severe GN involves local neutrophil extracellular trap (NET) formation. We hypothesized a local cytotoxic effect of NET-related histone release in necrotizing GN. In vitro, histones from calf thymus or histones released by neutrophils undergoing NETosis killed glomerular endothelial cells, podocytes, and parietal epithelial cells in a dose-dependent manner. Histone-neutralizing agents such as antihistone IgG, activated protein C, or heparin prevented this effect. Histone toxicity on glomeruli ex vivo was Toll-like receptor 2/4 dependent, and lack of TLR2/4 attenuated histone-induced renal thrombotic microangiopathy and glomerular necrosis in mice. Anti-glomerular basement membrane GN involved NET formation and vascular necrosis, whereas blocking NET formation by peptidylarginine inhibition or preemptive anti-histone IgG injection significantly reduced all aspects of GN (i.e., vascular necrosis, podocyte loss, albuminuria, cytokine induction, recruitment or activation of glomerular leukocytes, and glomerular crescent formation). To evaluate histones as a therapeutic target, mice with established GN were treated with three different histone-neutralizing agents. Anti-histone IgG, recombinant activated protein C, and heparin were equally effective in abrogating severe GN, whereas combination therapy had no additive effects. Together, these results indicate that NET-related histone release during GN elicits cytotoxic and immunostimulatory effects. Furthermore, neutralizing extracellular histones is still therapeutic when initiated in established GN. Copyright © 2015 by the American Society of Nephrology.

  16. Impalement of an unusual foreign body on the temporomandibular joint causing severe trismus.

    Science.gov (United States)

    Ito, Ryohei; Kubota, Kosei; Furudate, Ken; Nakagawa, Hiroshi; Kon, Takao; Tamura, Yoshihiro; Kobayashi, Wataru

    2016-12-01

    A penetrating injury by a foreign body is comparatively common in the oral and maxillofacial region. On the other hand, injury to the temporomandibular joint (TMJ) by a foreign object is very rare. The TMJ is an anatomically narrow space surrounded by hard bony processes. An unusual case of trauma with severe trismus caused by a foreign body that impaled the TMJ is reported. A 55-year-old man presented with a 5 × 1-cm laceration to the right cheek caused by a flying object propelled during the use of a lawn mower. The edge of the foreign body had a metallic wire, which became imbedded in the wound. His jaw opening was severely limited. Computed tomography revealed that the foreign body was 3 mm in diameter and was impaled on the articular capsule. The object was successfully removed, and the wound and interior of the TMJ were irrigated. Rehabilitation of mouth opening was started on postoperative day 3. On day 9, mouth opening had improved to 35 mm, and he was discharged. After 1 year, mouth opening was 45 mm with no sign of any TMJ disorders. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Gender-Based Violence Causing Severe Multiple Injuries; a Case Report

    Directory of Open Access Journals (Sweden)

    Adalard Falschung

    2018-04-01

    Full Text Available Introduction: Gender-based violence (GBV against women has been identified as a global health and development issue. We reported a case of GBV causing sever, multiple injuries in a middle-aged female. Case report: A 47-year-old woman presented to emergency room with disturbed level of consciousness, shortness of breath and multiple patches of skin discoloration. On examination, the patient was semi-conscious, with multiple ecchymosis and bilateral decreased air entry. Computed tomography scan of the neck and chest showed six rib fractures on the left side, and eight rib fractures on the right side, sternal fracture, manubriosternal dislocation, bilateral hemothorax, fracture of body of eleventh thoracic vertebra, and fracture of cervical spine of fifth and seventh vertebrae. The patient was intubated and admitted to intensive care unit. She was discharged with good health condition after 23 days of hospital admission. Conclusion: GBV is still a cause of severe trauma that puts the patient’s life at risk.

  18. Starvation Ketoacidosis: A Cause of Severe Anion Gap Metabolic Acidosis in Pregnancy

    Directory of Open Access Journals (Sweden)

    Nupur Sinha

    2014-01-01

    Full Text Available Pregnancy is a diabetogenic state characterized by relative insulin resistance, enhanced lipolysis, elevated free fatty acids and increased ketogenesis. In this setting, short period of starvation can precipitate ketoacidosis. This sequence of events is recognized as “accelerated starvation.” Metabolic acidosis during pregnancy may have adverse impact on fetal neural development including impaired intelligence and fetal demise. Short periods of starvation during pregnancy may present as severe anion gap metabolic acidosis (AGMA. We present a 41-year-old female in her 32nd week of pregnancy, admitted with severe AGMA with pH 7.16, anion gap 31, and bicarbonate of 5 mg/dL with normal lactate levels. She was intubated and accepted to medical intensive care unit. Urine and serum acetone were positive. Evaluation for all causes of AGMA was negative. The diagnosis of starvation ketoacidosis was established in absence of other causes of AGMA. Intravenous fluids, dextrose, thiamine, and folic acid were administered with resolution of acidosis, early extubation, and subsequent normal delivery of a healthy baby at full term. Rapid reversal of acidosis and favorable outcome are achieved with early administration of dextrose containing fluids.

  19. Oil sands mining and reclamation cause massive loss of peatland and stored carbon

    Science.gov (United States)

    Rooney, Rebecca C.; Bayley, Suzanne E.; Schindler, David W.

    2012-01-01

    We quantified the wholesale transformation of the boreal landscape by open-pit oil sands mining in Alberta, Canada to evaluate its effect on carbon storage and sequestration. Contrary to claims made in the media, peatland destroyed by open-pit mining will not be restored. Current plans dictate its replacement with upland forest and tailings storage lakes, amounting to the destruction of over 29,500 ha of peatland habitat. Landscape changes caused by currently approved mines will release between 11.4 and 47.3 million metric tons of stored carbon and will reduce carbon sequestration potential by 5,734–7,241 metric tons C/y. These losses have not previously been quantified, and should be included with the already high estimates of carbon emissions from oil sands mining and bitumen upgrading. A fair evaluation of the costs and benefits of oil sands mining requires a rigorous assessment of impacts on natural capital and ecosystem services. PMID:22411786

  20. A peptidomimetic targeting white fat causes weight loss and improved insulin resistance in obese monkeys.

    Science.gov (United States)

    Barnhart, Kirstin F; Christianson, Dawn R; Hanley, Patrick W; Driessen, Wouter H P; Bernacky, Bruce J; Baze, Wallace B; Wen, Sijin; Tian, Mei; Ma, Jingfei; Kolonin, Mikhail G; Saha, Pradip K; Do, Kim-Anh; Hulvat, James F; Gelovani, Juri G; Chan, Lawrence; Arap, Wadih; Pasqualini, Renata

    2011-11-09

    Obesity, defined as body mass index greater than 30, is a leading cause of morbidity and mortality and a financial burden worldwide. Despite significant efforts in the past decade, very few drugs have been successfully developed for the treatment of obese patients. Biological differences between rodents and primates are a major hurdle for translation of anti-obesity strategies either discovered or developed in rodents into effective human therapeutics. Here, we evaluate the ligand-directed peptidomimetic CKGGRAKDC-GG-(D)(KLAKLAK)(2) (henceforth termed adipotide) in obese Old World monkeys. Treatment with adipotide induced targeted apoptosis within blood vessels of white adipose tissue and resulted in rapid weight loss and improved insulin resistance in obese monkeys. Magnetic resonance imaging and dual-energy x-ray absorptiometry confirmed a marked reduction in white adipose tissue. At experimentally determined optimal doses, monkeys from three different species displayed predictable and reversible changes in renal proximal tubule function. Together, these data in primates establish adipotide as a prototype in a new class of candidate drugs that may be useful for treating obesity in humans.

  1. Severe Neonatal Hyperbilirubinemia; Causes and Contributing Factors Leading to Exchange Transfusion at Ghaem Hospital in Mashhad

    Directory of Open Access Journals (Sweden)

    Farhad Heydarian

    2010-12-01

    Full Text Available Hyperbilirubinemia is common in neonates; it can have a serious rising course. Due to its critical morbidity called "kernicterus", severe neonatal hyperbilirubinemia causes which lead to exchange transfusion, should be clarified. This descriptive cross sectional study performed with reviewing of files of 118 neonates weighting 2kg and more who had exchange transfusion in pediatrics ward at Ghaem training hospital in Mashhad from April 2004 to March 2007. Among 118 patients, 75 (63.6% were male, and 43 patients (36.4% were female. The most common cause of exchange transfusion was ABO incompatibility (38.1%. In order of frequency, unknown etiology (25.4%, Rh incompatibility (16.1% with no immune hydrops, Sepsis(8.5%, urinary tract infection (5.1% and others (3.4% (Including Crigler-Najjar and cephalohematoma were next ones. Vaginal delivery and exclusive breast feeding were detected as associated factors. Mean serum bilirubin levels was 28.7 mg/dl (SD. 9.2 ABO incompatibility. ABO incompatibility was the main cause of exchange transfusion. Male gender, vaginal delivery and exclusive breast feeding were seen more among patients who need to be exchanged. So in case of ABO incompatibility especially when delivery route is vaginal, newborns should be visited soon again after early discharge from hospital.

  2. Cochlear implantation: is hearing preservation necessary in severe to profound hearing loss?

    Science.gov (United States)

    Derinsu, Ufuk; Serin, Gediz Murat; Akdaş, Ferda; Batman, Çağlar

    2011-03-01

    The goal of the cochlear implant surgery is to place the electrode array with minimal damage to preserve the residual hearing. Round-window insertion can be performed in a manner that is potentially less traumatic than the standard cochleostomy. The purpose of the study was to investigate audiological results of the round-window approach using standard electrode. A retrospective study was performed to evaluate our experience in patients with implanted through round window between January 2007 and March 2009. Sixty patients had undergone cochlear implant surgery through the round window with full insertion of a standard electrode array. Preoperative and postoperative pure-tone thresholds were measured for implanted ears in the range of 250 to 4000 Hz. Within these 60 cases, 31 patients had been evaluated. The population comprised 16 women and 15 men. The mean age was 15.96 years (range, 4-64 years). Follow-up times ranged from 6 to 26 months. Preservation of low-frequency hearing (250 and 500 Hz) was achieved in 27 (87%) of 31 patients. Complete hearing preservation (all frequencies) was accomplished in 11 patients (35.48%). No hearing could be determined postoperatively in 4 patients (12.9%), having preoperative thresholds of 120 dB at 250, 500, and 1000 Hz. Round-window approach has been widely used for preservation of residual hearing. In our patients with severe to profound hearing loss, we preserved residual hearing. Although the residual hearing cannot be sufficient for using additional acoustic stimulation, the preserved residual hearing means minimal damage and a more convenient cochlea, so this is promising for future development.

  3. Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia

    Directory of Open Access Journals (Sweden)

    Hyun Jin Kim

    2017-03-01

    Full Text Available Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT at 22 years of age. At 21 years of age, hyperglycemia was detected with increased hemoglobin A1c and serum ferritin levels, 9.7% and 12,910 ng/mL (normal range, 20–320 ng/mL, respectively. The 24-hour urine C-peptide level was normal with negative antiglutamic acid decarboxylase antibody. Subsequently, metformin and an iron-chelating agent were administered. However, an intensive insulin regimen was necessary 2 years after the onset of diabetes. Subject 2, who was diagnosed with severe aplastic anemia at 2 years of age, received multiple blood transfusions until she underwent haploidentical PBSCT at 13 years of age. At 11 years of age, she developed diabetes mellitus with a high serum ferritin level (12,559.8 ng/mL. She is currently 18 years old and has been treated with an intensive insulin regimen and estrogen/progesterone replacement therapy because of hypogonadotropic hypogonadism. It is presumed that the loss of insulin secretory capacity and insulin resistance played a role in the pathogenesis of diabetes mellitus due to hemochromatosis in these cases.

  4. Simultaneous versus Sequential Intratympanic Steroid Treatment for Severe-to-Profound Sudden Sensorineural Hearing Loss.

    Science.gov (United States)

    Yoo, Myung Hoon; Lim, Won Sub; Park, Joo Hyun; Kwon, Joong Keun; Lee, Tae-Hoon; An, Yong-Hwi; Kim, Young-Jin; Kim, Jong Yang; Lim, Hyun Woo; Park, Hong Ju

    2016-01-01

    Severe-to-profound sudden sensorineural hearing loss (SSNHL) has a poor prognosis. We aimed to compare the efficacy of simultaneous and sequential oral and intratympanic steroids for this condition. Fifty patients with severe-to-profound SSNHL (>70 dB HL) were included from 7 centers. The simultaneous group (27 patients) received oral and intratympanic steroid injections for 2 weeks. The sequential group (23 patients) was treated with oral steroids for 2 weeks and intratympanic steroids for the subsequent 2 weeks. Pure-tone averages (PTA) and word discrimination scores (WDS) were compared before treatment and 2 weeks and 1 and 2 months after treatment. Treatment outcomes according to the modified American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) criteria were also analyzed. The improvement in PTA and WDS at the 2-week follow-up was 23 ± 21 dB HL and 20 ± 39% in the simultaneous group and 31 ± 29 dB HL and 37 ± 42% in the sequential group; this was not statistically significant. Complete or partial recovery at the 2-week follow-up was observed in 26% of the simultaneous group and 30% of the sequential group; this was also not significant. The improvement in PTA and WDS at the 2-month follow-up was 40 ± 20 dB HL and 37 ± 35% in the simultaneous group and 41 ± 25 dB HL and 48 ± 41% in the sequential group; this was not statistically significant. Complete or partial recovery at the 2-month follow-up was observed in 33% of the simultaneous group and 35% of the sequential group; this was also not significant. Seven patients in the sequential group did not need intratympanic steroid injections for sufficient improvement after oral steroids alone. Simultaneous oral/intratympanic steroid treatment yielded a recovery similar to that produced by sequential treatment. Because the addition of intratympanic steroids can be decided upon based on the improvement after an oral steroid, the sequential regimen can be recommended to avoid unnecessary

  5. Chronic plus binge ethanol exposure causes more severe pancreatic injury and inflammation

    Energy Technology Data Exchange (ETDEWEB)

    Ren, Zhenhua [Department of Anatomy, School of Basic Medicine, Anhui Medical University, Hefei, Anhui, China 230032 (China); Department of Pharmacology and Nutritional Sciences, University of Kentucky College of Medicine, Lexington, KY 40536 (United States); Yang, Fanmuyi; Wang, Xin; Wang, Yongchao; Xu, Mei; Frank, Jacqueline A. [Department of Pharmacology and Nutritional Sciences, University of Kentucky College of Medicine, Lexington, KY 40536 (United States); Ke, Zun-ji [Department of Biochemistry, Shanghai University of Traditional Chinese Medicine, Shanghai 201203 (China); Zhang, Zhuo; Shi, Xianglin [Department of Toxicology and Cancer Biology, University of Kentucky College of Medicine, Lexington, KY 40536 (United States); Luo, Jia, E-mail: jialuo888@uky.edu [Department of Pharmacology and Nutritional Sciences, University of Kentucky College of Medicine, Lexington, KY 40536 (United States)

    2016-10-01

    Alcohol abuse increases the risk for pancreatitis. The pattern of alcohol drinking may impact its effect. We tested a hypothesis that chronic ethanol consumption in combination with binge exposure imposes more severe damage to the pancreas. C57BL/6 mice were divided into four groups: control, chronic ethanol exposure, binge ethanol exposure and chronic plus binge ethanol exposure. For the control group, mice were fed with a liquid diet for two weeks. For the chronic ethanol exposure group, mice were fed with a liquid diet containing 5% ethanol for two weeks. In the binge ethanol exposure group, mice were treated with ethanol by gavage (5 g/kg, 25% ethanol w/v) daily for 3 days. For the chronic plus binge exposure group, mice were fed with a liquid diet containing 5% ethanol for two weeks and exposed to ethanol by gavage during the last 3 days. Chronic and binge exposure alone caused minimal pancreatic injury. However, chronic plus binge ethanol exposure induced significant apoptotic cell death. Chronic plus binge ethanol exposure altered the levels of alpha-amylase, glucose and insulin. Chronic plus binge ethanol exposure caused pancreatic inflammation which was shown by the macrophages infiltration and the increase of cytokines and chemokines. Chronic plus binge ethanol exposure increased the expression of ADH1 and CYP2E1. It also induced endoplasmic reticulum stress which was demonstrated by the unfolded protein response. In addition, chronic plus binge ethanol exposure increased protein oxidation and lipid peroxidation, indicating oxidative stress. Therefore, chronic plus binge ethanol exposure is more detrimental to the pancreas. - Highlights: • Chronic plus binge alcohol drinking causes more pancreatic injury. • Chronic plus binge alcohol drinking induces more pancreatic inflammation. • Chronic plus binge alcohol causes more endoplasmic reticulum stress and oxidative stress.

  6. Chronic plus binge ethanol exposure causes more severe pancreatic injury and inflammation

    International Nuclear Information System (INIS)

    Ren, Zhenhua; Yang, Fanmuyi; Wang, Xin; Wang, Yongchao; Xu, Mei; Frank, Jacqueline A.; Ke, Zun-ji; Zhang, Zhuo; Shi, Xianglin; Luo, Jia

    2016-01-01

    Alcohol abuse increases the risk for pancreatitis. The pattern of alcohol drinking may impact its effect. We tested a hypothesis that chronic ethanol consumption in combination with binge exposure imposes more severe damage to the pancreas. C57BL/6 mice were divided into four groups: control, chronic ethanol exposure, binge ethanol exposure and chronic plus binge ethanol exposure. For the control group, mice were fed with a liquid diet for two weeks. For the chronic ethanol exposure group, mice were fed with a liquid diet containing 5% ethanol for two weeks. In the binge ethanol exposure group, mice were treated with ethanol by gavage (5 g/kg, 25% ethanol w/v) daily for 3 days. For the chronic plus binge exposure group, mice were fed with a liquid diet containing 5% ethanol for two weeks and exposed to ethanol by gavage during the last 3 days. Chronic and binge exposure alone caused minimal pancreatic injury. However, chronic plus binge ethanol exposure induced significant apoptotic cell death. Chronic plus binge ethanol exposure altered the levels of alpha-amylase, glucose and insulin. Chronic plus binge ethanol exposure caused pancreatic inflammation which was shown by the macrophages infiltration and the increase of cytokines and chemokines. Chronic plus binge ethanol exposure increased the expression of ADH1 and CYP2E1. It also induced endoplasmic reticulum stress which was demonstrated by the unfolded protein response. In addition, chronic plus binge ethanol exposure increased protein oxidation and lipid peroxidation, indicating oxidative stress. Therefore, chronic plus binge ethanol exposure is more detrimental to the pancreas. - Highlights: • Chronic plus binge alcohol drinking causes more pancreatic injury. • Chronic plus binge alcohol drinking induces more pancreatic inflammation. • Chronic plus binge alcohol causes more endoplasmic reticulum stress and oxidative stress.

  7. Severe ionosphere disturbances caused by the sudden response of evening subequatorial ionospheres to geomagnetic storms

    International Nuclear Information System (INIS)

    Tanaka, T.

    1981-01-01

    By monitoring C band beacon signals from geostationary satellites in Japan, we have observed anomalously strong ionospheric scintillations several times during three years from 1978 to 1980. These severe scinitillations occur associated with geomagnetic storms and accompany sudden and intense ionospheric perturbations in the low-latiude region. Through the analysis of these phenomena we have identified a new type of ionospheric disturbances characterized by intensifications of equatorial anomalies and successive severe ionospheric scintillations that extend to the C band range. The events occur only during a limited local time interval after the sunset, when storm time decreases of midlatitude geomagnetic fields in the same meridan take place during the same time interval. From the viewpoint of ionospheric storms, these disturbances precede the occurrence of midlatitude negative phases and storm time depressions of equatorial anomalies to indicate that the cause of the events is different from distrubed thermospheric circulations. The timing and magnitude of substorms at high-latitudes not always correlate with the events. We have concluded that the phenomena are closely related with penetrations toward low-latitudes of electric fields owing to the partial closure of asymmetrical ring currents

  8. Natural Disasters under the Form of Severe Storms in Europe: the Cause-Effect Analysis

    Directory of Open Access Journals (Sweden)

    Virginia Câmpeanu

    2009-07-01

    Full Text Available For more than 100 years, from 1900 to 2008, there were almost 400 storms natural disasters in Europe, 40% of which occurred in the 1990s. The international prognoses for the world weather suggest a tendency toward increasing in frequency and intensity of the severe storms as the climate warms. In these circumstances, for a researcher in the field of Environmental Economics, a natural question occurs, on whether people can contribute to reducing the frequency and the magnitude of severe storms that produce disastreous social and economic effects, by acting on their causes. In researching an answer to support the public policies in the field, a cause-effect analysis applied to Europe might make a contribution to the literature in the field. This especially considering the fact that international literature regarding the factors influencing global warming contains certainties in regard to the natural factors of influence, but declared incertitudes or skepticism in regard to anthropogenic ones. Skepticism, and even tension arised during the international negotiations in Copenhagen (December 2009 in regard to the agreement for limiting global warming, with doubts being raised about the methods used by experts of the International Climate Experts Group (GIEC, and thus the results obtained, which served as a basis for the negotiations. The object of critics was in regard to the form, and at times in regard to the content. It was not about contesting the phenomenon of Global warming during the negotiations, but the methods of calculation. The methodology relies on qualitative (type top down and quantitative (type correlations bottom up cause-effect analysis of the storm disasters in Europe. Based on the instruments used, we proposed a dynamic model of association of the evolution of storm disasters in Europe with anthropogenic factors, with 3 variants. Results: The diagram cause-effect (Ishikawa or fishbone diagram and quantitative correlation of sub

  9. Staphylococcus aureus seroproteomes discriminate ruminant isolates causing mild or severe mastitis

    Directory of Open Access Journals (Sweden)

    Le Maréchal Caroline

    2011-02-01

    Full Text Available Abstract Staphylococcus aureus is a major cause of mastitis in ruminants. In ewe mastitis, symptoms range from subclinical to gangrenous mastitis. S. aureus factors or host-factors contributing to the different outcomes are not completely elucidated. In this study, experimental mastitis was induced on primiparous ewes using two S. aureus strains, isolated from gangrenous (strain O11 or subclinical (strain O46 mastitis. Strains induced drastically distinct clinical symptoms when tested in ewe and mice experimental mastitis. Notably, they reproduced mild (O46 or severe (O11 mastitis in ewes. Ewe sera were used to identify staphylococcal immunoreactive proteins commonly or differentially produced during infections of variable severity and to define core and accessory seroproteomes. Such SERological Proteome Analysis (SERPA allowed the identification of 89 immunoreactive proteins, of which only 52 (58.4% were previously identified as immunogenic proteins in other staphylococcal infections. Among the 89 proteins identified, 74 appear to constitute the core seroproteome. Among the 15 remaining proteins defining the accessory seroproteome, 12 were specific for strain O11, 3 were specific for O46. Distribution of one protein specific for each mastitis severity was investigated in ten other strains isolated from subclinical or clinical mastitis. We report here for the first time the identification of staphylococcal immunogenic proteins common or specific to S. aureus strains responsible for mild or severe mastitis. These findings open avenues in S. aureus mastitis studies as some of these proteins, expressed in vivo, are likely to account for the success of S. aureus as a pathogen of the ruminant mammary gland.

  10. Severe extremity amputations in surviving Palestinian civilians caused by explosives fired from drones during the Gaza War.

    Science.gov (United States)

    Heszlein-Lossius, Hanne; Al-Borno, Yahya; Shaqoura, Samar; Skaik, Nashwa; Giil, Lasse Melvær; Gilbert, Mads

    2018-02-21

    operations (p=0·0001). Weapons fired on the Gaza Strip from Israeli drones caused severe injuries in surviving Palestinian civilians. Drone-fired missiles resulted in major amputations in almost all victims who had limb losses. Substantially more severe injuries were inflicted by the drone-launched explosives than by other weapons used during the Gaza War. Traumatic amputations caused by drones were often immediately complete. One limitation of our study is that it does not elucidate injury patterns in victims with fatal injuries. None. Copyright © 2018 Elsevier Ltd. All rights reserved.

  11. Spatial patterns of progressive brain volume loss after moderate-severe traumatic brain injury.

    Science.gov (United States)

    Cole, James H; Jolly, Amy; de Simoni, Sara; Bourke, Niall; Patel, Maneesh C; Scott, Gregory; Sharp, David J

    2018-01-04

    Traumatic brain injury leads to significant loss of brain volume, which continues into the chronic stage. This can be sensitively measured using volumetric analysis of MRI. Here we: (i) investigated longitudinal patterns of brain atrophy; (ii) tested whether atrophy is greatest in sulcal cortical regions; and (iii) showed how atrophy could be used to power intervention trials aimed at slowing neurodegeneration. In 61 patients with moderate-severe traumatic brain injury (mean age = 41.55 years ± 12.77) and 32 healthy controls (mean age = 34.22 years ± 10.29), cross-sectional and longitudinal (1-year follow-up) brain structure was assessed using voxel-based morphometry on T1-weighted scans. Longitudinal brain volume changes were characterized using a novel neuroimaging analysis pipeline that generates a Jacobian determinant metric, reflecting spatial warping between baseline and follow-up scans. Jacobian determinant values were summarized regionally and compared with clinical and neuropsychological measures. Patients with traumatic brain injury showed lower grey and white matter volume in multiple brain regions compared to controls at baseline. Atrophy over 1 year was pronounced following traumatic brain injury. Patients with traumatic brain injury lost a mean (± standard deviation) of 1.55% ± 2.19 of grey matter volume per year, 1.49% ± 2.20 of white matter volume or 1.51% ± 1.60 of whole brain volume. Healthy controls lost 0.55% ± 1.13 of grey matter volume and gained 0.26% ± 1.11 of white matter volume; equating to a 0.22% ± 0.83 reduction in whole brain volume. Atrophy was greatest in white matter, where the majority (84%) of regions were affected. This effect was independent of and substantially greater than that of ageing. Increased atrophy was also seen in cortical sulci compared to gyri. There was no relationship between atrophy and time since injury or age at baseline. Atrophy rates were related to memory performance at the end of the follow

  12. Types and severity of operated supraclavicular brachial plexus injuries caused by traffic accidents.

    Science.gov (United States)

    Kaiser, Radek; Waldauf, Petr; Haninec, Pavel

    2012-07-01

    Brachial plexus injuries occur in up to 5% of polytrauma cases involving motorcycle accidents and in approximately 4% of severe winter sports injuries. One of the criteria for a successful operative therapy is the type of lesion. Upper plexus palsy has the best prognosis, whereas lower plexus palsy is surgically untreatable. The aim of this study was to evaluate a group of patients with brachial plexus injury caused by traffic accidents, categorize the injuries according to type of accident, and look for correlations between type of palsy (injury) and specific accidents. A total of 441 brachial plexus reconstruction patients from our department were evaluated retrospectively(1993 to 2011). Sex, age, neurological status, and the type and cause of injury were recorded for each case. Patients with BPI caused by a traffic accident were assessed in detail. Traffic accidents were the cause of brachial plexus injury in most cases (80.7%). The most common type of injury was avulsion of upper root(s) (45.7%) followed by rupture (28.2%), complete avulsion (16.9%) and avulsion of lower root(s) (9.2%). Of the patients, 73.9% had an upper,22.7% had a complete and only 3.4% had a lower brachial plexus palsy. The main cause was motorcycle accidents(63.2%) followed by car accidents (23.5%), bicycle accidents(10.7%) and pedestrian collisions (3.1%) (paccidents had a higher percentage of lower avulsion (22.7%) and a lower percentage of upper avulsion (29.3%), whereas cyclists had a higher percentage of upper avulsion (68.6%) based on the data from the entire group of patients (paccidents (9.3%,paccidents),significantly more upper and fewer lower palsies were present. In the bicycle accident group, upper palsy was the most common (89%). Study results indicate that the most common injury was an upper plexus palsy. It was characteristic of bicycle accidents, and significantly more common in car and motorcycle accidents. The results also indicate that it is important to consider the

  13. Agricultural measures to reduce radiation doses to man caused by severe nuclear accidents

    International Nuclear Information System (INIS)

    Dorp, F. van; Eleveld, R.; Frissel, M.J.

    1981-01-01

    Agricultural land and products may become contaminated after a severe nuclear accident. If radiation doses to man caused by the ingestion of contaminated agricultural products from such areas will be unacceptably high, measures to reduce this radiation dose will have to be taken. Radiation doses to man can be estimated by using models which describe quantitatively the transfer of radionuclides through the biosphere. The following processes and pathways are described in this study: accidental releases into atmospheric environments and subsequent nearby deposition; contamination of crops by direct deposition and the subsequent short term pathway (e.g. grass-cow-milk-man); contamination of soil and the subsequent long term pathway (e.g. soil-crop-man, soil-grass-cattle-milk/meat-man). Depending on the degree of contamination and on the estimated radiation doses to man, various measures are advised. (Auth.)

  14. Severe Toxic Skin Reaction Caused by a Common Anemone and Identification of the Culprit Organism.

    Science.gov (United States)

    Tezcan, Özgür Deniz; Gözer, Özgür

    2015-01-01

    In a marine envenomation, identification of the culprit organism can be difficult. In this case report, we present our method to identify snakelocks anemone (Anemonia viridis or formerly Anemonia sulcata) as the culprit of a severe toxic skin reaction. A. viridis is one of the most common anemones of the Mediterranean Sea and the North Atlantic Ocean. It lives at a depth of up to 10 m. It is a member of the phylum Cnidaria, which includes jellyfish, anemones, hydroids, and corals. They have toxic organelles called cnidocysts that have the capacity to inject venom with microscopic harpoon-like structures. The cnidocysts of A. viridis may cause toxic and allergic reactions, and although its venom is one of the most studied cnidarian venoms, detailed case reports are rare. © 2015 International Society of Travel Medicine.

  15. Depletion of WRN protein causes RACK1 to activate several protein kinase C isoforms

    DEFF Research Database (Denmark)

    Massip, L; Garand, C; Labbé, A

    2010-01-01

    show that a knock down of the WRN protein in normal human fibroblasts induces phosphorylation and activation of several protein kinase C (PKC) enzymes. Using a tandem affinity purification strategy, we found that WRN physically and functionally interacts with receptor for activated C-kinase 1 (RACK1......), a highly conserved anchoring protein involved in various biological processes, such as cell growth and proliferation. RACK1 binds strongly to the RQC domain of WRN and weakly to its acidic repeat region. Purified RACK1 has no impact on the helicase activity of WRN, but selectively inhibits WRN exonuclease...... activity in vitro. Interestingly, knocking down RACK1 increased the cellular frequency of DNA breaks. Depletion of the WRN protein in return caused a fraction of nuclear RACK1 to translocate out of the nucleus to bind and activate PKCdelta and PKCbetaII in the membrane fraction of cells. In contrast...

  16. Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Kyung Mi Jang

    2017-09-01

    Full Text Available Pituitary stalk interruption syndrome (PSIS involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism. To the best of our knowledge, there is no case report of a patient with PSIS presenting with hyponatremia as the first symptom in Korean children. Herein, we report a patient with PSIS presenting severe recurrent hyponatremia as the first symptom, during adolescence and explain the pathophysiology of hyponatremia with secondary adrenal insufficiency.

  17. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

    Science.gov (United States)

    Pingault, Veronique; Bodereau, Virginie; Baral, Viviane; Marcos, Severine; Watanabe, Yuli; Chaoui, Asma; Fouveaut, Corinne; Leroy, Chrystel; Vérier-Mine, Odile; Francannet, Christine; Dupin-Deguine, Delphine; Archambeaud, Françoise; Kurtz, François-Joseph; Young, Jacques; Bertherat, Jérôme; Marlin, Sandrine; Goossens, Michel; Hardelin, Jean-Pierre; Dodé, Catherine; Bondurand, Nadege

    2013-05-02

    Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest. It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. On the basis of recent findings of olfactory-bulb agenesis in WS individuals, we suspected SOX10 was also involved in Kallmann syndrome (KS). KS is defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Mutations in any of the nine genes identified to date account for only 30% of the KS cases. KS can be either isolated or associated with a variety of other symptoms, including deafness. This study reports SOX10 loss-of-function mutations in approximately one-third of KS individuals with deafness, indicating a substantial involvement in this clinical condition. Study of SOX10-null mutant mice revealed a developmental role of SOX10 in a subpopulation of glial cells called olfactory ensheathing cells. These mice indeed showed an almost complete absence of these cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  18. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

    Science.gov (United States)

    Ichikawa, Shoji; Imel, Erik A.; Kreiter, Mary L.; Yu, Xijie; Mackenzie, Donald S.; Sorenson, Andrea H.; Goetz, Regina; Mohammadi, Moosa; White, Kenneth E.; Econs, Michael J.

    2007-01-01

    Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). Herein we report a homozygous missense mutation (H193R) in the KLOTHO (KL) gene of a 13-year-old girl who presented with severe tumoral calcinosis with dural and carotid artery calcifications. This patient exhibited defects in mineral ion homeostasis with marked hyperphosphatemia and hypercalcemia as well as elevated serum levels of parathyroid hormone and FGF23. Mapping of H193R mutation onto the crystal structure of myrosinase, a plant homolog of KL, revealed that this histidine residue was at the base of the deep catalytic cleft and mutation of this histidine to arginine should destabilize the putative glycosidase domain (KL1) of KL, thereby attenuating production of membrane-bound and secreted KL. Indeed, compared with wild-type KL, expression and secretion of H193R KL were markedly reduced in vitro, resulting in diminished ability of FGF23 to signal via its cognate FGF receptors. Taken together, our findings provide what we believe to be the first evidence that loss-of-function mutations in human KL impair FGF23 bioactivity, underscoring the essential role of KL in FGF23-mediated phosphate and vitamin D homeostasis in humans. PMID:17710231

  19. A SEVERE CASE OF ACUTE NECROTIC PANCREATITIS CAUSED BY DUODENAL CYST DUPLICATION

    Directory of Open Access Journals (Sweden)

    Gabriel Constantinescu

    2018-03-01

    Full Text Available Introduction. Duodenal duplication cyst (DDC is a rare congenital malformation that appears in the embryonic development of the digestive tract. It is a benign condition usually diagnosed in infancy and early childhood, being a rare and difficult diagnosis in adult population. DDC is a recognized cause of duodenal obstruction, acute pancreatitis, obstructive jaundice and even digestive hemorrhage. Case presentation. We report the case of a young adult male with abdominal pain history, who presents with recurrent episodes of acute severe necrotic pancreatitis. The abdominal computed tomography scan revealed a Balthazar C necrotic pancreatitis with partial thrombosis of the splenic vein and a cystic mass in the second part of the duodenum. The endoscopic ultrasonography (EUS established that the duodenal cystic lesion came from the second layer, meaning the submucosa. We performed endoscopic cystotomy with complete evacuation of the fluid content into the duodenum, with favorable clinical outcome. Conclusions. The particularity of the case is represented by the low incidence of this pathology and the rare form of presentation, meaning acute pancreatitis probably from pancreatic ductular hypertension caused by the DDC.

  20. Human bocavirus infection as a cause of severe acute respiratory tract infection in children.

    Science.gov (United States)

    Moesker, F M; van Kampen, J J A; van der Eijk, A A; van Rossum, A M C; de Hoog, M; Schutten, M; Smits, S L; Bodewes, R; Osterhaus, A D M E; Fraaij, P L A

    2015-10-01

    In 2005 human bocavirus (HBoV) was discovered in respiratory tract samples of children. The role of HBoV as the single causative agent for respiratory tract infections remains unclear. Detection of HBoV in children with respiratory disease is frequently in combination with other viruses or bacteria. We set up an algorithm to study whether HBoV alone can cause severe acute respiratory tract infection (SARI) in children. The algorithm was developed to exclude cases with no other likely cause than HBoV for the need for admission to the paediatric intensive care unit (PICU) with SARI. We searched for other viruses by next-generation sequencing (NGS) in these cases and studied their HBoV viral loads. To benchmark our algorithm, the same was applied to respiratory syncytial virus (RSV)-positive patients. From our total group of 990 patients who tested positive for a respiratory virus by means of RT-PCR, HBoV and RSV were detected in 178 and 366 children admitted to our hospital. Forty-nine HBoV-positive patients and 72 RSV-positive patients were admitted to the PICU. We found seven single HBoV-infected cases with SARI admitted to PICU (7/49, 14%). They had no other detectable virus by NGS. They had much higher HBoV loads than other patients positive for HBoV. We identified 14 RSV-infected SARI patients with a single RSV infection (14/72, 19%). We conclude that our study provides strong support that HBoV can cause SARI in children in the absence of viral and bacterial co-infections. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  1. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

    Science.gov (United States)

    Nikopoulos, Konstantinos; Farinelli, Pietro; Giangreco, Basilio; Tsika, Chrysanthi; Royer-Bertrand, Beryl; Mbefo, Martial K; Bedoni, Nicola; Kjellström, Ulrika; El Zaoui, Ikram; Di Gioia, Silvio Alessandro; Balzano, Sara; Cisarova, Katarina; Messina, Andrea; Decembrini, Sarah; Plainis, Sotiris; Blazaki, Styliani V; Khan, Muhammad Imran; Micheal, Shazia; Boldt, Karsten; Ueffing, Marius; Moulin, Alexandre P; Cremers, Frans P M; Roepman, Ronald; Arsenijevic, Yvan; Tsilimbaris, Miltiadis K; Andréasson, Sten; Rivolta, Carlo

    2016-09-01

    Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency of central vision. After exome analysis of a cohort of individuals with CRD, we identified biallelic mutations in the orphan gene CEP78 in three subjects from two families: one from Greece and another from Sweden. The Greek subject, from the island of Crete, was homozygous for the c.499+1G>T (IVS3+1G>T) mutation in intron 3. The Swedish subjects, two siblings, were compound heterozygotes for the nearby mutation c.499+5G>A (IVS3+5G>A) and for the frameshift-causing variant c.633delC (p.Trp212Glyfs(∗)18). In addition to CRD, these three individuals had hearing loss or hearing deficit. Immunostaining highlighted the presence of CEP78 in the inner segments of retinal photoreceptors, predominantly of cones, and at the base of the primary cilium of fibroblasts. Interaction studies also showed that CEP78 binds to FAM161A, another ciliary protein associated with retinal degeneration. Finally, analysis of skin fibroblasts derived from affected individuals revealed abnormal ciliary morphology, as compared to that of control cells. Altogether, our data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Causes and pattern of tooth loss in children and adolescents in a ...

    African Journals Online (AJOL)

    Information obtained included age, gender, missing and extracted teeth, and reasons for extraction/tooth loss. Exfoliated primary teeth and congenitally missing teeth were excluded. Data was analysed using Epi info 2007 statistical software. Chi-square test was used to compare proportions of tooth loss among age groups.

  3. Relation between diagnoses on severity, sick leave and loss of job among patients with occupational hand eczema

    DEFF Research Database (Denmark)

    Cvetkovski, Rikke Skoet; Rothman, Kenneth J; Olsen, J

    2005-01-01

    the worst prognosis. OBJECTIVES: To evaluate and compare the severity and consequences of recognized OHE in different diagnostic and subdiagnostic groups. METHODS: Between October 2001 and November 2002, all new cases of recognized OHE were identified from the Danish National Board of Industrial Injuries...... occupation and loss of job. RESULTS: The overall response rate to the questionnaire was 82%. We observed substantially greater severity among those with occupational irritant contact dermatitis (ICD) and AD than for any other diagnoses. Age above 50 years was also associated with increased severity of OHE...... that they had lost their job at least once during the past 12 months due to OHE. The only strong association with loss of job was food-related occupations. CONCLUSIONS: Occupational ICD and AD appear to be strongly associated with severity of OHE. AD and severity of OHE were independently associated...

  4. Severe burn injuries caused by bioethanol-design fireplaces-an overview on recreational fire threats.

    Science.gov (United States)

    Kraemer, Robert; Knobloch, Karsten; Lorenzen, Johan; Breuing, Karl H; Koennecker, Soeren; Rennekampff, Hans-Oliver; Vogt, Peter M

    2011-01-01

    Commercially available bioethanol-fueled fireplaces have become increasingly popular additions for interior home decoration in Europe and more recently in the United States. These fireplaces are advertised as smokeless, ecologically friendly, and do not require professional installation, formal gas lines, or venting. Although manufacturers and businesses promote their safety, recent presentations of injuries have alerted the authors to the relevant danger bioethanol fireplaces can pose for the incautious user. Are bioethanol fireplaces going to become the future threat in domestic burn accidents beside common barbeque burns? A Medline literature search on barbeque and domestic fireplace accidents was performed to compare and stratify the injury patterns reported and to identify a risk profile for contemporary bioethanol-fueled fireplaces. To exemplify, two representative clinical cases of severe burn accidents caused by bioethanol-fueled fireplaces, both treated in the burn unit of the authors, are being presented. Design fireplaces are being recognized as an increasing source of fuel and fire-related danger in the home. This risk may be underestimated by the uninformed customer, resulting in severe burn injuries. Because bioethanol-fueled fireplaces have become more commonplace, they may overtake barbecue-related injury as the most common domestic burn injury.

  5. Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease.

    Science.gov (United States)

    Jiang, Hua; Huang, Lv-Yin; Zhen, Li; Jiang, Fan; Li, Dong-Zhi

    Hb H disease is generally a moderate form of α-thalassemia (α-thal) that rarely requires regular blood transfusions. In this study, two Chinese families with members carrying transfusion-dependent Hb H disease were investigated for rare mutations on the α-globin genes (HBA1, HBA2). In one family, Hb Zürich-Albisrieden [α59(E8)Gly→Arg; HBA1: c.178G>C] in combination with the Southeast Asian (- - SEA ) deletion was the defect responsible for the severe phenotype. In another family, a novel hemoglobin (Hb) variant named Hb Sichuan (HBA1: c.393_394insT), causes α-thal and a severe phenotype when associated with the - - SEA deletion. As these two HBA1 mutations can present as continuous blood transfusion-dependent α-thal, it is important to take this point into account for detecting the carriers, especially in couples in which one partner is already a known α 0 -thal carrier.

  6. Causes of severe visual impairment and blindness in children in schools for the blind in eastern Africa: changes in the last 14 years.

    Science.gov (United States)

    Njuguna, Margaret; Msukwa, Gerald; Shilio, Bernadeth; Tumwesigye, Cillasy; Courtright, Paul; Lewallen, Susan

    2009-01-01

    To determine the causes of severe visual impairment and blindness in children attending schools for the blind in Kenya, Malawi, Uganda, and Tanzania and to compare the findings with those of a 1994 study. Children attending schools for the blind or annexes in 4 eastern African countries were examined. The major anatomical site of and underlying etiology of severe visual impairment and blindness was recorded using the standardized World Health Organization (WHO) reporting form. A total of 1062 children aged below 16 years were examined of whom 701 (65.2%) had severe visual impairment or blindness. The major anatomical sites of visual loss overall (% and 95% CI) were cornea scar/phthisis bulbi (19%,16.1-21.9), whole globe lesions (15.7%,13.0-18.4), retina (15.4 %, 12.7-18.1), lens related disorders (13.1%, 10.7-15.5), and optic nerve disorders (12.3%, 9.9-14.7). Corneal scar/phthisis was not distributed equally among the countries and was highest in Malawi, similar to findings in 1995. The major etiology of visual loss was childhood factors (29.9%) and an estimated 40% of severe visual impairment and blindness was due to potentially avoidable causes. The major causes of severe visual impairment and blindness overall have not changed appreciably since 1995. There are important differences among countries, however, and using overall estimates for planning may be misleading.

  7. Massive hard coral loss after a severe bleaching event in 2010 at Los Roques, Venezuela

    Directory of Open Access Journals (Sweden)

    Carolina Bastidas

    2012-03-01

    Full Text Available Thermal anomalies have become more severe, frequent and well-documented across the Caribbean for the past 30 years. This increase in temperature has caused coral bleaching resulting in reef decline. At Los Roques National Park, Venezuela, temperature has been monitored at four reef sites. In mid-September 2010, seawater temperature reached 30.85°C at 5 m depth in Los Roques, an archipelago only slightly affected by previous bleaching events. For example, bleaching in Los Roques in 2005 was mild compared to the rest of the Caribbean and to the results in this study. In 2010, seawater temperatures remained above 29.0°C from mid-August until the first week of November, resulting in +16 Degree Heating Weeks by that time. Our annual survey of four reef sites indicated that 72% of 563 scleractinian colonies were partial or totally bleached (white or pale (discolored in October 2010. In February 2011, there were still 46% of coral colonies affected; but most of them were pale and only 2% were bleached. By February, coral cover had declined 4 to 30% per transect, with a mean of 14.3%. Thus, mean coral cover dropped significantly from 45 to 31% cover (a 34% reduction. In addition to bleaching, corals showed a high prevalence (up to 16% of black band disease in October 2010 and of white plague (11% in February 2011. As a consequence, coral mortality is expected to be larger than reported here. Reef surveys since 2002 and personal observations for more than 20 years indicated that this bleaching event and its consequences in Los Roques have no precedent. Our results suggest that reef sites with no previous record of significant deterioration are more likely to become affected by thermal anomalies. However, this archipelago is relatively unaffected by local anthropogenic disturbance and has a high coral recruitment, which may contribute to its recovery

  8. The efficacy of fuel treatment in mitigating property loss during wildfires: Insights from analysis of the severity of the catastrophic fires in 2009 in Victoria, Australia.

    Science.gov (United States)

    Price, Owen F; Bradstock, Ross A

    2012-12-30

    Treatment of fuel (e.g. prescribed fire, logging) in fire-prone ecosystems is done to reduce risks to people and their property but effects require quantification, particularly under severe weather conditions when the destructive potential of fires on human infrastructure is maximised. We analysed the relative effects of fuel age (i.e. indicative of the effectiveness of prescribed fire) and logging on remotely sensed (SPOT imagery) severity of fires which occurred in eucalypt forests in Victoria, Australia in 2009. These fires burned under the most severe weather conditions recorded in Australia and caused large losses of life and property. Statistical models of the probability of contrasting extremes of severity (crown fire versus fire confined to the understorey) were developed based on effects of fuel age, logging, weather, topography and forest type. Weather was the primary influence on severity, though it was reduced at low fuel ages in Moderate but not Catastrophic, Very High or Low fire-weather conditions. Probability of crown fires was higher in recently logged areas than in areas logged decades before, indicating likely ineffectiveness as a fuel treatment. The results suggest that recently burnt areas (up to 5-10 years) may reduce the intensity of the fire but not sufficiently to increase the chance of effective suppression under severe weather conditions. Since house loss was most likely under these conditions (67%), effects of prescribed burning across landscapes on house loss are likely to be small when weather conditions are severe. Fuel treatments need to be located close to houses in order to effectively mitigate risk of loss. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

    Science.gov (United States)

    Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

    2016-08-01

    Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.

  10. Velvet bean severe mosaic virus: a distinct begomovirus species causing severe mosaic in Mucuna pruriens (L.) DC.

    Science.gov (United States)

    Zaim, Mohammad; Kumar, Yogesh; Hallan, Vipin; Zaidi, A A

    2011-08-01

    Velvet bean [Mucuna pruriens (L.) DC] is one of the most important medicinal plants. It is used to treat many ailments, but is widely used for the treatment especially for Parkinson's disease because of the presence of 3,4-dihydroxyphenylalanine (L-dopa) in it. It was noticed in last 5 years that the plants in the field showed severe mosaic, downward curling of the leaves, stunting, etc. This is consistently observed over the years in India. The disease was transmitted by whiteflies and by grafting and the causal agent was found to be a bipartite begomovirus. The whole genome was amplified by rolling circle amplification (RCA) using ϕ-29 DNA polymerase and characterized. DNA-A and DNA-B shared a 124-nucleotide (nt) long highly conserved (98%) common region (CR). Comparisons with other begomovirus showed that DNA-A sequence has highest identity (76%) with an isolate of Mungbean yellow mosaic India virus (MYMIV; AY937195) reported from India. This data suggested that the present isolate is a new species of genus Begomovirus for which the name "Velvet bean severe mosaic virus" (VbSMV) is proposed. DNA-B has a maximum sequence identity of 49% with an isolate of Horsegram yellow mosaic virus (HgYMV; AM932426) reported from India. Infectious clones consisting of a 1.7 mer partial tandem repeat of DNA-A and a dimer of DNB-B were constructed and agro-inoculated to Macuna pruriens (L.) DC plants, which showed field observed symptoms 24 days post-infiltration (dpi). In phylogenetic analysis, DNA-A and DNA-B of the present isolate grouped with DNA-A of different begomoviruses reported from fabaceous crops. The study presents first ever molecular evidence of any disease in velvet bean and whole genome analysis of the causative virus which is a distinct bipartite species of Begomovirus.

  11. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

    Science.gov (United States)

    Rosas-Vargas, H; Bahi-Buisson, N; Philippe, C; Nectoux, J; Girard, B; N'Guyen Morel, M A; Gitiaux, C; Lazaro, L; Odent, S; Jonveaux, P; Chelly, J; Bienvenu, T

    2008-03-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported. So far, no clear genotype-phenotype correlation has been established. We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). Segregation analysis showed that p.Arg65Gln was inherited from the healthy father, which rules out the involvement of CDKL5 in the aetiology of the phenotype in this patient. However, the de novo occurrence was shown for p.Ala40Val and p.Leu220Pro. The p.Ala40Val mutation was observed in two unrelated patients and represented the first recurrent mutation in the CDKL5 gene. For the two de novo mutations, we analysed the cellular localisation of the wild-type and CDKL5 mutants by transfection experiments. We showed that the two CDKL5 mutations cause mislocalisation of the mutant CDKL5 proteins in the cytoplasm. Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.

  12. Brd2 disruption in mice causes severe obesity without Type 2 diabetes.

    Science.gov (United States)

    Wang, Fangnian; Liu, Hongsheng; Blanton, Wanda P; Belkina, Anna; Lebrasseur, Nathan K; Denis, Gerald V

    2009-12-14

    Certain human subpopulations are metabolically healthy but obese, or metabolically obese but normal weight; such mutations uncouple obesity from glucose intolerance, revealing pathways implicated in Type 2 diabetes. Current searches for relevant genes consume significant effort. We have reported previously a novel double bromodomain protein called Brd2, which is a transcriptional co-activator/co-repressor with SWI/SNF (switch mating type/sucrose non-fermenting)-like functions that regulates chromatin. In the present study, we show that wholebody disruption of Brd2, an unusual MHC gene, causes lifelong severe obesity in mice with pancreatic islet expansion, hyperinsulinaemia, hepatosteatosis and elevated pro-inflammatory cytokines, but, surprisingly, enhanced glucose tolerance, elevated adiponectin, increased weight of brown adipose tissue, heat production and expression of mitochondrial uncoupling proteins in brown adipose tissue, reduced macrophage infiltration in white adipose tissue, and lowered blood glucose, leading to an improved metabolic profile and avoiding eventual Type 2 diabetes. Brd2 is highly expressed in pancreatic beta-cells, where it normally inhibits beta-cell mitosis and insulin transcription. In 3T3-L1 pre-adipocytes, Brd2 normally co-represses PPAR-gamma (peroxisome-proliferator-activated receptor-gamma) and inhibits adipogenesis. Brd2 knockdown protects 3T3-L1 adipocytes from TNF-alpha (tumour necrosis factor-alpha)-induced insulin resistance, thereby decoupling inflammation from insulin resistance. Thus hypomorphic Brd2 shifts energy balance toward storage without causing glucose intolerance and may provide a novel model for obese metabolically healthy humans.

  13. Neurodevelopmental Disorders in Children with Severe to Profound Sensorineural Hearing Loss: A Clinical Study

    Science.gov (United States)

    Chilosi, Anna M.; Comparini, Alessandro; Scusa, Maria F.; Berrettini, Stefano; Forli, Francesca; Battini, Roberta; Cipriani, Paola; Cioni, Giovanni

    2010-01-01

    Aim: The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation…

  14. Evaluation of human dental loss caused by carbamide peroxide bleacher compared with phosphoric acid conditioning - radioactive method

    International Nuclear Information System (INIS)

    Adachi, Eduardo Makoto; Yousseff, Michel Nicolau; Saiki, Mitiko

    2002-01-01

    The radiometric method was applied to the evaluation of dental loss caused by carbamide peroxide when it is applied on the surface layers of enamel and dentin tissues. Also the dental loss caused by the etching with 37% phosphoric acid procedure used in aesthetic restoration was assessed for comparison with those results obtained. The tooth samples irradiated with a P standard in a thermal neutron flux of the nuclear reactor were placed in contact with 10% carbamide peroxide or with 37% phosphoric acid solution. The radioactivity of 32 P transferred from the radioactive teeth to the bleaching gel or to etching acid was measured using a Geiger Muller detector to calculate the mass of P removed in this treatment and losses were calculated after obtaining their P concentrations. Results obtained indicated that enamel and dentin exposed to carbamide peroxide bleaching agent lose phosphorus. The extent of enamel loss was smaller than that obtained for dentin. In the case of acid etching, there was no difference between the results obtained for enamel and dentin loss. Also the dentin loss obtained after a treatment of 30 applications of 10% carbamide peroxide was the same magnitude of that one application of 37% phosphoric acid. (author)

  15. A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

    Science.gov (United States)

    Manji, Shehnaaz S M; Williams, Louise H; Miller, Kerry A; Ooms, Lisa M; Bahlo, Melanie; Mitchell, Christina A; Dahl, Hans-Henrik M

    2011-03-15

    Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the synaptojanin 2 (Synj2), a central regulatory enzyme in the phosphoinositide-signaling cascade. The hearing loss in Mozart is caused by a p.Asn538Lys mutation in the catalytic domain of the inositol polyphosphate 5-phosphatase synaptojanin 2. Within the cochlea, Synj2 mRNA expression was detected in the inner and outer hair cells but not in the spiral ganglion. Synj2(N538K) mutant protein showed loss of lipid phosphatase activity, and was unable to degrade phosphoinositide signaling molecules. Mutant Mozart mice (Synj2(N538K/N538K)) exhibited progressive hearing loss and showed signs of hair cell degeneration as early as two weeks of age, with fusion of stereocilia followed by complete loss of hair bundles and ultimately loss of hair cells. No changes in vestibular or neurological function, or other clinical or behavioral manifestations were apparent. Phosphoinositides are membrane associated signaling molecules that regulate many cellular processes including cell death, proliferation, actin polymerization and ion channel activity. These results reveal Synj2 as a critical regulator of hair cell survival that is essential for hair cell maintenance and hearing function.

  16. Severe complications caused by dissolution of latex with consequent self-disintegration of esophageal plastic tubes.

    Science.gov (United States)

    Löser, C

    2000-09-01

    A case of decisive material degeneration of an esophageal Celestin tube is described: a 50-year-old man with adenocarcinoma of the distal esophagus received a Celestin tube for palliative endoscopic treatment and 8 months later presented with suddenly occurring complete dysphagia. Dissolution of the latex layer in the proximal as well as the distal part of the tube had caused self-disintegration of the Celestin tube and had liberated the monofilament nylon coil which completely obstructed the lumen of the tube. Endoscopic tube removal was only possible by careful attachment of a balloon catheter and peroral extraction after insufflation with contrast medium up to 5 atm. A Medline-based review of the literature revealed different but predominantly severe complications (perforation, hemorrhage, obstruction, and peritonitis) based on material fatigue of the latex layer in esophageal Celestin tubes. At least 6 months after placement of a Celestin tube, regular fluoroscopic controls should be performed to detect early disintegration of the tube. Indication for the placement of Celestin tubes in patients with benign esophageal strictures and longer life expectancy should be assessed very critically.

  17. An unusual cause of severe dyspnea: A laryngeal live leech: Case report.

    Science.gov (United States)

    Anajar, Said; Ansari, Rachid; Hassnaoui, Jawad; Abada, Reda; Roubal, Mohammed; Mahtar, Mohammed

    2017-01-01

    Foreign bodies in the upper airways are one of the most challenging otolaryngology emergencies, leeches present a very rare cause of airway foreign bodies around the world. A 6-year-old girl was referred to our otolaryngology department at a tertiary university hospital with a severe dyspnea and hemoptysis. Nasofibroscopy revealed a dark living leech in the supraglottic area which extends to the glottis. The patient was urgently admitted to the operating room, the leech was grasped and removed with a foreign body forceps with a full length of more than 6cm. All symptoms were relieved post operatively and she was discharged one day later. Leeches should be suspected as an airway foreign body in patients with a recent history of drinking from stream water. Prevention remains the best treatment for such cases based simply on hygiene measures like not drinking stream water directly and filtering drinking water before it is used. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  18. Economic Estimation of the Losses Caused by Surface Water Pollution Accidents in China From the Perspective of Water Bodies’ Functions

    Directory of Open Access Journals (Sweden)

    Hong Yao

    2016-01-01

    Full Text Available The number of surface water pollution accidents (abbreviated as SWPAs has increased substantially in China in recent years. Estimation of economic losses due to SWPAs has been one of the focuses in China and is mentioned many times in the Environmental Protection Law of China promulgated in 2014. From the perspective of water bodies’ functions, pollution accident damages can be divided into eight types: damage to human health, water supply suspension, fishery, recreational functions, biological diversity, environmental property loss, the accident’s origin and other indirect losses. In the valuation of damage to people’s life, the procedure for compensation of traffic accidents in China was used. The functional replacement cost method was used in economic estimation of the losses due to water supply suspension and loss of water’s recreational functions. Damage to biological diversity was estimated by recovery cost analysis and damage to environmental property losses were calculated using pollutant removal costs. As a case study, using the proposed calculation procedure the economic losses caused by the major Songhuajiang River pollution accident that happened in China in 2005 have been estimated at 2263 billion CNY. The estimated economic losses for real accidents can sometimes be influenced by social and political factors, such as data authenticity and accuracy. Besides, one or more aspects in the method might be overestimated, underrated or even ignored. The proposed procedure may be used by decision makers for the economic estimation of losses in SWPAs. Estimates of the economic losses of pollution accidents could help quantify potential costs associated with increased risk sources along lakes/rivers but more importantly, highlight the value of clean water to society as a whole.

  19. Economic Estimation of the Losses Caused by Surface Water Pollution Accidents in China From the Perspective of Water Bodies’ Functions

    Science.gov (United States)

    Yao, Hong; You, Zhen; Liu, Bo

    2016-01-01

    The number of surface water pollution accidents (abbreviated as SWPAs) has increased substantially in China in recent years. Estimation of economic losses due to SWPAs has been one of the focuses in China and is mentioned many times in the Environmental Protection Law of China promulgated in 2014. From the perspective of water bodies’ functions, pollution accident damages can be divided into eight types: damage to human health, water supply suspension, fishery, recreational functions, biological diversity, environmental property loss, the accident’s origin and other indirect losses. In the valuation of damage to people’s life, the procedure for compensation of traffic accidents in China was used. The functional replacement cost method was used in economic estimation of the losses due to water supply suspension and loss of water’s recreational functions. Damage to biological diversity was estimated by recovery cost analysis and damage to environmental property losses were calculated using pollutant removal costs. As a case study, using the proposed calculation procedure the economic losses caused by the major Songhuajiang River pollution accident that happened in China in 2005 have been estimated at 2263 billion CNY. The estimated economic losses for real accidents can sometimes be influenced by social and political factors, such as data authenticity and accuracy. Besides, one or more aspects in the method might be overestimated, underrated or even ignored. The proposed procedure may be used by decision makers for the economic estimation of losses in SWPAs. Estimates of the economic losses of pollution accidents could help quantify potential costs associated with increased risk sources along lakes/rivers but more importantly, highlight the value of clean water to society as a whole. PMID:26805869

  20. Economic Estimation of the Losses Caused by Surface Water Pollution Accidents in China From the Perspective of Water Bodies' Functions.

    Science.gov (United States)

    Yao, Hong; You, Zhen; Liu, Bo

    2016-01-22

    The number of surface water pollution accidents (abbreviated as SWPAs) has increased substantially in China in recent years. Estimation of economic losses due to SWPAs has been one of the focuses in China and is mentioned many times in the Environmental Protection Law of China promulgated in 2014. From the perspective of water bodies' functions, pollution accident damages can be divided into eight types: damage to human health, water supply suspension, fishery, recreational functions, biological diversity, environmental property loss, the accident's origin and other indirect losses. In the valuation of damage to people's life, the procedure for compensation of traffic accidents in China was used. The functional replacement cost method was used in economic estimation of the losses due to water supply suspension and loss of water's recreational functions. Damage to biological diversity was estimated by recovery cost analysis and damage to environmental property losses were calculated using pollutant removal costs. As a case study, using the proposed calculation procedure the economic losses caused by the major Songhuajiang River pollution accident that happened in China in 2005 have been estimated at 2263 billion CNY. The estimated economic losses for real accidents can sometimes be influenced by social and political factors, such as data authenticity and accuracy. Besides, one or more aspects in the method might be overestimated, underrated or even ignored. The proposed procedure may be used by decision makers for the economic estimation of losses in SWPAs. Estimates of the economic losses of pollution accidents could help quantify potential costs associated with increased risk sources along lakes/rivers but more importantly, highlight the value of clean water to society as a whole.

  1. Did Eucalyptus contribute to environment degradation? Implications from a dispute on causes of severe drought in Yunnan and Guizhou, China

    OpenAIRE

    WenJun Zhang

    2012-01-01

    Various viewpoints were proposed to explain the causes of recent years' severe drought occurred in Yunnan and Guizhou, China. In general there are two parties of viewpoints, the Eucalyptus cause and climate change cause. I think Yunnan-Guizhou drought has been mainly caused by abnormal climate change. Eucalyptus was not significant in the formation of Yunnan-Guizhou drought. However, the forestation effect of Eucalyptus in China was not good. Environment quality and biodiversity in Eucalyptus...

  2. Molecular Epidemiology of Epidemic Severe Malaria Caused by Plasmodium vivax in the State of Amazonas, Brazil

    National Research Council Canada - National Science Library

    Santos-Ciminera, Patricia D

    2005-01-01

    .... In Manaus, the capital of Amazonas, atypical cases of Plasmodium vivax infections, including patients presenting with severe thrombocytopenia and bleeding, led to the hypothesis that severe disease...

  3. Bilateral idiopathic optic perineuritis with severe vision loss: A case report

    Directory of Open Access Journals (Sweden)

    Wee-Min Teh

    2015-07-01

    Full Text Available Optic perineuritis is an orbital inflammatory disorder that is either idiopathic or secondary to other conditions such as infection or systemic inflammatory disorders. This condition is very similar to demyelinating optic neuritis, but certain features of the history and magnetic resonance imaging findings are characteristic for and aid in the diagnosis of optic perineuritis. Vision loss varies greatly, from minimal clouding of vision up to only light perception. We report a case of a 44-year-old female with idiopathic bilateral optic perineuritis with vision loss of up to no light perception in both eyes. Radio imaging studies were typical of optic perineuritis and she was started on systemic corticosteroids. She responded very well to steroid therapy and achieved nearly complete visual recovery. There had been no relapse despite cessation of therapy.

  4. Severe signal loss in diamond beam loss monitors in high particle rate environments by charge trapping in radiation-induced defects

    Energy Technology Data Exchange (ETDEWEB)

    Kassel, Florian; Boer, Wim de [Institute for Experimental Nuclear Physics (IEKP), KIT, Karlsruhe (Germany); Guthoff, Moritz; Dabrowski, Anne [CERN, Meyrin (Switzerland)

    2016-10-15

    The beam condition monitoring leakage (BCML) system is a beam monitoring device in the compact muon solenoid (CMS) experiment at the large hadron collider (LHC). As detectors 32 poly-crystalline (pCVD) diamond sensors are positioned in rings around the beam pipe. Here, high particle rates occur from the colliding beams scattering particles outside the beam pipe. These particles cause defects, which act as traps for the ionization, thus reducing the charge collection efficiency (CCE). However, the loss in CCE was much more severe than expected from low rate laboratory measurements and simulations, especially in single-crystalline (sCVD) diamonds, which have a low initial concentration of defects. After an integrated luminosity of a few fb{sup -1} corresponding to a few weeks of LHC operation, the CCE of the sCVD diamonds dropped by a factor of five or more and quickly approached the poor CCE of pCVD diamonds. The reason why in real experiments the CCE is much worse than in laboratory experiments is related to the ionization rate. At high particle rates the trapping rate of the ionization is so high compared with the detrapping rate, that space charge builds up. This space charge reduces locally the internal electric field, which in turn increases the trapping rate and recombination and hence reduces the CCE in a strongly non-linear way. A diamond irradiation campaign was started to investigate the rate-dependent electrical field deformation with respect to the radiation damage. Besides the electrical field measurements via the transient current technique (TCT), the CCE was measured. The experimental results were used to create an effective deep trap model that takes the radiation damage into account. Using this trap model, the rate-dependent electrical field deformation and the CCE were simulated with the software SILVACO TCAD. The simulation, tuned to rate-dependent measurements from a strong radioactive source, was able to predict the non-linear decrease of the

  5. Severe signal loss in diamond beam loss monitors in high particle rate environments by charge trapping in radiation-induced defects

    International Nuclear Information System (INIS)

    Kassel, Florian; Boer, Wim de; Guthoff, Moritz; Dabrowski, Anne

    2016-01-01

    The beam condition monitoring leakage (BCML) system is a beam monitoring device in the compact muon solenoid (CMS) experiment at the large hadron collider (LHC). As detectors 32 poly-crystalline (pCVD) diamond sensors are positioned in rings around the beam pipe. Here, high particle rates occur from the colliding beams scattering particles outside the beam pipe. These particles cause defects, which act as traps for the ionization, thus reducing the charge collection efficiency (CCE). However, the loss in CCE was much more severe than expected from low rate laboratory measurements and simulations, especially in single-crystalline (sCVD) diamonds, which have a low initial concentration of defects. After an integrated luminosity of a few fb -1 corresponding to a few weeks of LHC operation, the CCE of the sCVD diamonds dropped by a factor of five or more and quickly approached the poor CCE of pCVD diamonds. The reason why in real experiments the CCE is much worse than in laboratory experiments is related to the ionization rate. At high particle rates the trapping rate of the ionization is so high compared with the detrapping rate, that space charge builds up. This space charge reduces locally the internal electric field, which in turn increases the trapping rate and recombination and hence reduces the CCE in a strongly non-linear way. A diamond irradiation campaign was started to investigate the rate-dependent electrical field deformation with respect to the radiation damage. Besides the electrical field measurements via the transient current technique (TCT), the CCE was measured. The experimental results were used to create an effective deep trap model that takes the radiation damage into account. Using this trap model, the rate-dependent electrical field deformation and the CCE were simulated with the software SILVACO TCAD. The simulation, tuned to rate-dependent measurements from a strong radioactive source, was able to predict the non-linear decrease of the CCE in

  6. A brief period of sleep deprivation causes spine loss in the dentate gyrus of mice.

    Science.gov (United States)

    Raven, Frank; Meerlo, Peter; Van der Zee, Eddy A; Abel, Ted; Havekes, Robbert

    2018-03-24

    Sleep and sleep loss have a profound impact on hippocampal function, leading to memory impairments. Modifications in the strength of synaptic connections directly influences neuronal communication, which is vital for normal brain function, as well as the processing and storage of information. In a recently published study, we found that as little as five hours of sleep deprivation impaired hippocampus-dependent memory consolidation, which was accompanied by a reduction in dendritic spine numbers in hippocampal area CA1. Surprisingly, loss of sleep did not alter the spine density of CA3 neurons. Although sleep deprivation has been reported to affect the function of the dentate gyrus, it is unclear whether a brief period of sleep deprivation impacts spine density in this region. Here, we investigated the impact of a brief period of sleep deprivation on dendritic structure in the dentate gyrus of the dorsal hippocampus. We found that five hours of sleep loss reduces spine density in the dentate gyrus with a prominent effect on branched spines. Interestingly, the inferior blade of the dentate gyrus seems to be more vulnerable in terms of spine loss than the superior blade. This decrease in spine density predominantly in the inferior blade of the dentate gyrus may contribute to the memory deficits observed after sleep loss, as structural reorganization of synaptic networks in this subregion is fundamental for cognitive processes. Copyright © 2018 Elsevier Inc. All rights reserved.

  7. Sporadic Endolymphatic Sac Tumor-A Very Rare Cause of Hearing Loss, Tinnitus, and Dizziness

    DEFF Research Database (Denmark)

    Schnack, Didde Trærup; Kiss, Katalin; Hansen, Søren

    2017-01-01

    Sporadic endolymphatic sac tumor is a very rare neoplasm. It is low malignant, locally destructive and expansive, but non-metastasizing. The tumor is very rare in the sporadic form, but more often associated with Von Hippel-Lindau disease. A 65-year old man with left sided tinnitus and hearing loss......-operative freeze-microscopy showed inflammation tissue, whereas subsequent microscopy showed papillary-cystic endolymphatic sac tumor. Endolymphatic sac tumor is a rare neoplasm. The tumor may present with asymmetrically sensory neural hearing loss with or without tinnitus, dizziness and facial nerve paresis...

  8. Mortality caused by intracranial bleeding in non-severe hemophilia A patients

    NARCIS (Netherlands)

    Loomans, Janneke I.; Eckhardt, Corien L.; Reitter-Pfoertner, Sylvia E.; Holmstrom, Mats; Van Gorkom, B. Laros; Leebeek, F. W. G.; Santoro, C.; Haya, Saturnino; Meijer, K.; Nijziel, M. R.; Van Der Bom, J. G.; Fijnvandraat, K.

    Background: Non-severe hemophilia (factor VIII concentration [FVIII: C] of 2-40 IU dL(-1)) is characterized by a milder bleeding phenotype than severe hemophilia A. However, some patients with non-severe hemophilia A suffer from severe bleeding complications that may result in death. Data on

  9. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    Science.gov (United States)

    Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

    2006-01-01

    Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

  10. [Analysis of the spectrum and resistance of pathogen causing sepsis in patients with severe acute pancreatitis].

    Science.gov (United States)

    Ma, H X; He, L; Cai, S W; Xin, X L; Shi, H D; Zhou, L; Shi, X J

    2017-05-01

    Objective: To investigate the characteristics of spectrum and drug resistance of pathogens causing sepsis in patients with severe acute pancreatitis(SAP). Methods: The clinical data of 63 SAP patients with sepsis admitted in Department of Hepatobiliary, People's Liberation Army General Hospital from January 2014 to December 2015 were retrospectively studied. There were 47 males and 16 females, aged from 22 to 73 years, with an average age of (52±11)years. Samples were collected mainly from: (1)pancreatic and peripancreatic necrosis and abdominal drainage; (2)bile; (3) blood or deep venous catheter; (4) sputum and tracheal catheter and thoracic drainage; (5) urine. Strain identification and drug-resistance test were preformed on positive specimens. Results: Of 244 pathogenic isolates, mainly derived from abdominal cavity(36.0%), blood stream (14.0%), central venous catheter(11.8%), necrotic tissue(9.1%) and sputum(8.1%); 154(63.1%) were gram-negative bacteria, 68 cases(27.9%) were gram-positive bacteria and 22 cases(9.0%) were fungi respectively. The top six common pathogens isolated were E . coli(16.0%), E .faecium and faecalis(15.2%), P .aeruginosa(10.7%), K .pneumonia(9.8%), Acinetobacter baumanni(8.2%), Stenotrophomonas maltophilia(5.3%)respectively. The detection rate of E . coli and K . pneumonia extended-spectrum β-lactamases(ESBL) was 84.6%(33/39) and 70.8%(17/24), the resistance rate to imipeniem was 12.8% and 25.0%, to cefperazone-sulbactam was 28.2% and 29.2%. As to P . aeruginosa and Acinetobacter bacillus, the resistance rate to imipeniem was 50.0% and 75.0%, to cefperazone-sulbactam was 42.3% and 70.0%; Stenotrophomonas maltophilia was completely resistant to cefperazone-sulbactam, but sensitive to minocycline, SMZ-TMP with the resistance rate less than 40.0%. Gram-positive bacterium strains mainly included E . faecium(38.2%, 26/68), E .faecalis(16.2%, 11/68) and Staphylococcus(35.3%, 24/68) which maintained high sensitivity to vancomycin

  11. Massive hard coral loss after a severe bleaching event in 2010 at Los Roques, Venezuela

    Directory of Open Access Journals (Sweden)

    Carolina Bastidas

    2012-03-01

    Full Text Available Thermal anomalies have become more severe, frequent and well-documented across the Caribbean for the past 30 years. This increase in temperature has caused coral bleaching resulting in reef decline. At Los Roques National Park, Venezuela, temperature has been monitored at four reef sites. In mid-September 2010, seawater temperature reached 30.85°C at 5 m depth in Los Roques, an archipelago only slightly affected by previous bleaching events. For example, bleaching in Los Roques in 2005 was mild compared to the rest of the Caribbean and to the results in this study. In 2010, seawater temperatures remained above 29.0°C from mid-August until the first week of November, resulting in +16 Degree Heating Weeks by that time. Our annual survey of four reef sites indicated that 72% of 563 scleractinian colonies were partial or totally bleached (white or pale (discolored in October 2010. In February 2011, there were still 46% of coral colonies affected; but most of them were pale and only 2% were bleached. By February, coral cover had declined 4 to 30% per transect, with a mean of 14.3%. Thus, mean coral cover dropped significantly from 45 to 31% cover (a 34% reduction. In addition to bleaching, corals showed a high prevalence (up to 16% of black band disease in October 2010 and of white plague (11% in February 2011. As a consequence, coral mortality is expected to be larger than reported here. Reef surveys since 2002 and personal observations for more than 20 years indicated that this bleaching event and its consequences in Los Roques have no precedent. Our results suggest that reef sites with no previous record of significant deterioration are more likely to become affected by thermal anomalies. However, this archipelago is relatively unaffected by local anthropogenic disturbance and has a high coral recruitment, which may contribute to its recoveryDurante las últimas décadas las anomalías térmicas han sido más frecuentes y severas en el Caribe

  12. Weight Loss After Laparoscopic Adjustable Gastric Banding is not Caused by Altered Gastric Emptying

    NARCIS (Netherlands)

    de Jong, J. R.; van Ramshorst, B.; Gooszen, H. G.; Smout, A. J. P. M.; Buul, M. M. C. Tiel-Van

    In order to know the role of gastric emptying in the mechanism of weight loss and early satiety after a restrictive surgical procedure for treatment of morbid obesity, a consecutive series of patients were scintigraphically investigated before and after laparoscopic adjustable gastric banding.

  13. Java project on periodontal diseases: causes of tooth loss in a cohort of untreated individuals

    NARCIS (Netherlands)

    van der Velden, U.; Amaliya, A.; Loos, B.G.; Timmerman, M.F.; van der Weijden, F.A.; Winkel, E.G.; Abbas, F.

    2015-01-01

    Objective To assess the relative contribution of caries and periodontal disease to tooth loss over 24 years in a cohort deprived of regular dental care. Material & Methods The study population consisted of 98 subjects from a tea estate on West Java, Indonesia, that had been part of a prospective

  14. Java project on periodontal diseases : causes of tooth loss in a cohort of untreated individuals

    NARCIS (Netherlands)

    van der Velden, Ubele; Amaliya, Amaliya; Loos, Bruno G.; Timmerman, Mark F.; van der Weijden, Fridus A.; Winkel, Edwin G.; Abbas, Frank

    ObjectiveTo assess the relative contribution of caries and periodontal disease to tooth loss over 24years in a cohort deprived of regular dental care. Material & MethodsThe study population consisted of 98 subjects from a tea estate on West Java, Indonesia, that had been part of a prospective

  15. Prevalence of Various Reproductive Disorders and Economic Losses Caused by Genital Prolapse in Buffaloes

    Directory of Open Access Journals (Sweden)

    Rasheed A. Rabbani, I. Ahmad*, L. A. Lodhi, N. Ahmad and G. Muhammad1

    2010-01-01

    Full Text Available The present study was conducted to investigate the prevalence of various reproductive disorders and to estimate the economic losses due to genital prolapse in buffaloes in Sir Shamir area of District Faisalabad, Pakistan. The survey was conducted in 8 villages during the 12 months period from June 2005 to May 2006 and the data from 400 farmers (50 farmers from each village were collected. The total buffalo population of this area was 7,785, out of which 2,135 (27.42% animals were included in the study. The overall prevalence of reproductive disorders in buffaloes was recorded as 46.18%. Among all the reproductive disorders, repeat breeding showed the highest prevalence (15.69%, followed by anestrous (9.74%, genital prolapse (7.73%, abortion (5.99%, retained placenta (2.58%, uterine torsion (2.39% and dystocia (2.06%. The total economic losses due to genital prolapse in buffaloes in eight villages during the period of study were estimated to be Rs. 4,59,500/- Among these, the highest losses were due to mortality of dam (39.17%, followed by milk losses (25.14%, service charges (21.33% and medicine cost (14.36%. Thus, repeat breeding, anoestrus and genital prolapse seem to be the major reproductive problems in buffaloes in the study area.

  16. Weight loss after laparoscopic adjustable gastric banding is not caused by altered gastric emptying

    NARCIS (Netherlands)

    de Jong, J. R.; van Ramshorst, B.; Gooszen, H. G.; Smout, A. J. P. M.; Tiel-van Buul, M. M. C.

    2009-01-01

    BACKGROUND: In order to know the role of gastric emptying in the mechanism of weight loss and early satiety after a restrictive surgical procedure for treatment of morbid obesity, a consecutive series of patients were scintigraphically investigated before and after laparoscopic adjustable gastric

  17. Reduction of the ionization loss distribution width of several simultaneous relativistic particles traversing a scintillation counter

    CERN Document Server

    Aderholz, M; Matthewson, R; Lehraus, I no 1; Matthewson, R no 1; Aderholz, M no 1

    1975-01-01

    A Poisson distribution of number of electrons at the input stages of a photomultiplier has been folded into a Landau-Symon distribution of ionization losses in a plastic scintillator and a distribution of the smallest value out of n detectors was derived analytically for m simultaneous particles. A group of four identical scintillation counters was constructed and the smallest of the four output pulses was used for selective triggering of the bubble chamber flash with the greater precision engendered by the considerably reduced distribution width. (22 refs).

  18. Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

    DEFF Research Database (Denmark)

    Sarzi, Emmanuelle; Seveno, Marie; Angebault, Claire

    2016-01-01

    levels of steroid precursor pregnenolone in females, causing an early-onset vision loss, abolished by ovariectomy. In addition, steroid production in retina is also increased which, in conjunction with high circulating levels, impairs estrogen receptor expression and mitochondrial respiratory complex IV...... tested the hypothesis of deregulated steroid production in retina due to a disease-causing OPA1 mutation and its contribution to the visual phenotypic variations. Using the mouse model carrying the human recurrent OPA1 mutation, we disclosed that Opa1 haploinsufficiency leads to very high circulating...

  19. Indirect causes of severe adverse maternal outcomes: a secondary analysis of the WHO Multicountry Survey on Maternal and Newborn Health.

    Science.gov (United States)

    Lumbiganon, P; Laopaiboon, M; Intarut, N; Vogel, J P; Souza, J P; Gülmezoglu, A M; Mori, R

    2014-03-01

    To assess the proportion of severe maternal outcomes resulting from indirect causes, and to determine pregnancy outcomes of women with indirect causes. Secondary analysis of the WHO Multicountry Survey on Maternal and Newborn Health. A total of 359 health facilities in 29 countries in Africa, Asia, Latin America, and the Middle East. A total of 314 623 pregnant women admitted to the participating facilities. We identified the percentage of women with severe maternal outcomes arising from indirect causes. We evaluated the risk of severe maternal and perinatal outcomes in women with, versus without, underlying indirect causes, using adjusted odds ratios and 95% confidence intervals, by a multilevel, multivariate logistic regression model, accounting for clustering effects within countries and health facilities. Severe maternal outcomes and preterm birth, fetal mortality, early neonatal mortality, perinatal mortality, low birthweight, and neonatal intensive care unit admission. Amongst 314 623 included women, 2822 were reported to suffer from severe maternal outcomes, out of which 20.9% (589/2822; 95% CI 20.1-21.6%) were associated with indirect causes. The most common indirect cause was anaemia (50%). Women with underlying indirect causes showed significantly higher risk of obstetric complications (adjusted odds ratio, aOR, 7.0; 95% CI 6.6-7.4), severe maternal outcomes (aOR 27.9; 95% CI 24.7-31.6), and perinatal mortality (aOR 3.8; 95% CI 3.5-4.1). Indirect causes were responsible for about one-fifth of severe maternal outcomes. Women with underlying indirect causes had significantly increased risks of severe maternal and perinatal outcomes. © 2014 RCOG The World Health Organization retains copyright and all other rights in the manuscript of this article as submitted for publication.

  20. Perceived causes of severe mental disturbance and preferred interventions by the Borana semi-nomadic population in southern Ethiopia: a qualitative study

    Science.gov (United States)

    2012-01-01

    Background Culture affects the way people conceptualize causes of severe mental disturbance which may lead to a variation in the preferred intervention methods. There is a seemingly dichotomous belief regarding what causes severe mental disturbance: people living in western countries tend to focus mainly on biological and psychosocial risk factors; whereas, in non-western countries the focus is mainly on supernatural and religious factors. These belief systems about causation potentially dictate the type of intervention preferred. Studying such belief systems in any society is expected to help in planning and implementation of appropriate mental health services. Methods A qualitative study was conducted among the Borana semi-nomadic population in southern Ethiopia to explore perceived causes of severe mental disturbance and preferred interventions. We selected, using purposive sampling, key informants from three villages and conducted a total of six focus group discussions: three for males and three for females. Results The views expressed regarding the causes of mental disturbance were heterogeneous encompassing supernatural causes such as possession by evil spirits, curse, bewitchment, ‘exposure to wind’ and subsequent attack by evil spirit in postnatal women and biopsychosocial causes such as infections (malaria), loss, ‘thinking too much’, and alcohol and khat abuse. The preferred interventions for severe mental disturbance included mainly indigenous approaches, such as consulting Borana wise men or indigenous healers, prayer, holy water treatment and seeking modern mental health care as a last resort. Conclusions These findings will be of value for health care planners who wish to expand modern mental health care to this population, indicating the need to increase awareness about the causes of severe mental disturbance and their interventions and collaborate with influential people and indigenous healers to increase acceptability of modern mental

  1. Signal loss in magnetic resonance imaging caused by intraoral anchored dental magnetic materials

    International Nuclear Information System (INIS)

    Blankenstein, F.H.; Naumann, M.; Truong, B.; Thomas, A.; Schroeder, R.J.

    2006-01-01

    Purpose: to measure the maximum extent of the signal loss areas in the center of the susceptibility artifacts generated by ferromagnetic dental magnet attachments using three different sequences in the 1.5 and 3.0 Tesla MRI. Materials and methods: five different pieces of standard dental magnet attachments with volumes of 6.5 to 31.4 mm 3 were used: a NdFeB magnet with an open magnetic field, a NdFeB magnet with a closed magnetic field, a SmCo magnet with an open magnetic field, a stainless steel keeper (AUM-20) and a PdCo piece. The attachments were placed between two cylindrical phantoms and examined in 1.5 and 3.0 Tesla MRI using gradient echo and T1- and T2-weighted spin echoes. We measured the maximum extent of the generated signal loss areas parallel and perpendicular to the direction of B O . Results: in gradient echoes the artifacts were substantially larger and symmetrically adjusted around the object. The areas with total signal loss were mushroom-like with a maximum extent of 7.4 to 9.7 cm parallel to the direction of B O and 6.7 to 7.4 cm perpendicular to B O . In spin echoes the signal loss areas were obviously smaller, but not centered. The maximum values ranged between 4.9 and 7.2 cm (parallel B O ) and 3.6 and 7.0 cm (perpendicular B O ). The different ferromagnetic attachments had no clinically relevant influence on the signal loss neither in 1.5 T nor 3.0 T MRI. Conclusions: ferromagnetic materials used in dentistry are not intraorally standardized. To ensure, that the area of interest is not affected by the described artifacts, the maximum extent of the signal loss area should be assumed: a radius of up to 7 cm in 1.5 and 3.0 T MRI by T1 and T2 sequences, and a radius of up to 10 cm in T2* sequences. To decide whether magnet attachments have to be removed before MR imaging, physicians should consider both the intact retention of the keepers and the safety distance between the ferromagnetic objects and the area of interest. (orig.)

  2. Low-amplitude distal esophageal spasm as a cause of severe dysphagia for solid food

    NARCIS (Netherlands)

    Breumelhof, R.; Timmer, R.; van Hees, P. A.; Obertop, H.; Smout, A. J.

    1996-01-01

    This case report presents a patient with progressive dysphagia, accompanied by weight loss, in the absence of organic disease. Esophageal motility studies initially failed to reveal a diagnosis. At simultaneous manometry and fluoroscopy, with bread/barium boluses, the diagnosis of esophageal spasm

  3. [Ocular myositis as a rare cause of vision loss].

    Science.gov (United States)

    Rollnik, J D; Requadt, H

    2017-04-01

    Ocular myositis is a rare disease characterized by painful diplopia but loss of vision rarely occurs. The article reviews the literature focusing on the differential diagnostics. We report the case of an 80-year-old women suffering from slowly progressive loss of vision in the left eye. Diplopia was only present at the beginning and there was only moderate pain. Computed tomography and magnetic resonance imaging revealed a swelling of the left medial, lateral and inferior rectus muscles of the orbit leading to compression of the optic nerve in the orbital cone. An intravenous prednisolone stoss therapy (1000 mg per day for 3 consecutive days) was initiated, followed by oral medication of 100 mg per day then tapering over 10 weeks. Vision improved and no relapses were observed. Physicians should be aware of this rare disease to ensure quick diagnosis and treatment of ocular myositis.

  4. VPS35 Deficiency or Mutation Causes Dopaminergic Neuronal Loss by Impairing Mitochondrial Fusion and Function

    Directory of Open Access Journals (Sweden)

    Fu-Lei Tang

    2015-09-01

    Full Text Available Vacuolar protein sorting-35 (VPS35 is a retromer component for endosomal trafficking. Mutations of VPS35 have been linked to familial Parkinson’s disease (PD. Here, we show that specific deletion of the VPS35 gene in dopamine (DA neurons resulted in PD-like deficits, including loss of DA neurons and accumulation of α-synuclein. Intriguingly, mitochondria became fragmented and dysfunctional in VPS35-deficient DA neurons, phenotypes that could be restored by expressing VPS35 wild-type, but not PD-linked mutant. Concomitantly, VPS35 deficiency or mutation increased mitochondrial E3 ubiquitin ligase 1 (MUL1 and, thus, led to mitofusin 2 (MFN2 degradation and mitochondrial fragmentation. Suppression of MUL1 expression ameliorated MFN2 reduction and DA neuron loss but not α-synuclein accumulation. These results provide a cellular mechanism for VPS35 dysfunction in mitochondrial impairment and PD pathogenesis.

  5. A rare cause of conductive hearing loss: High lateralized jugular bulb with bony dehiscence.

    Science.gov (United States)

    Barr, James G; Singh, Pranay K

    2016-06-01

    We present a rare case of pediatric conductive hearing loss due to a high lateralized jugular bulb. An 8-year-old boy with a right-sided conductive hearing loss of 40 dB was found to have a pink bulge toward the inferior part of the right eardrum. Computed tomography showed a high, lateralized right jugular bulb that had a superolaterally pointing diverticulum that bulged into the lower mesotympanum and posterior external auditory meatus. It was explained to the child's parents that it is important never to put any sharp objects into the ears because of the risk of injury to the jugular vein. A high, lateralized jugular bulb with a diverticulum is a rare anatomic abnormality. Correct diagnosis of this abnormality is important so that inappropriate intervention does not occur.

  6. Injury Severity and Causes of Death from Operation Iraqi Freedom and Operation Enduring Freedom: 2003-2004 Versus 2006

    National Research Council Canada - National Science Library

    Kelly, Joseph F; Ritenour, Amber E; McLaughlin, Daniel F; Bagg, Karen A; Apodaca, Amy N; Mallak, Craig T; Pearse, Lisa; Lawnick, Mary M; Champion, Howard R; Wade, Charles E

    2008-01-01

    .... The authors hypothesized that the severity of wounds has increased over time. In this study, they examined cause of death looking for opportunities to improve clinical research and training for the battlefield...

  7. Loss of renal function causes premature aging of the immune system.

    Science.gov (United States)

    Betjes, Michiel G H; Meijers, Ruud W J; Litjens, Nicolle H R

    2013-01-01

    Uremia-associated immune deficiency is a well-known complication of loss of renal function and contributes significantly to the overall mortality and morbidity of patients with end-stage renal disease. Chronic inflammation and increased oxidative stress are underlying the uremia-associated immune deficiency. In this review, the differential impact of uremia on the cellular immune system is summarized. Virtually all immune cells studied show a combination of an activated status and loss of function. However, uremia preferentially decreases the number and function of lymphoid cells while myeloid cells show normal and/or elevated cell numbers with increased production of inflammatory cytokines and reactive oxygen species. These particular changes are compatible with immunological aging, which is characterized by loss of thymic function, attrition of telomeres and an expanded memory T cell population. Similar to aging in healthy individuals, the proinflammatory and potential cardiotoxic subsets of CD28(null) T cells and CD16(+) monocytes are increased. Epigenetically changed hematopoietic stem cells may be involved in immunological aging as specific DNA regions become hypermethylated. Proinflammatory T cells and monocytes persist after kidney transplantation, which constitutes a persistent cardiovascular risk factor. Possible therapeutic options to reverse or halt uremia-associated immunological aging are discussed. Premature aging of the immune system is a dominant feature in patients with end-stage renal failure, which corresponds to immunological aging in elderly healthy individuals, which is characterized by preferential loss of cells belonging to the lymphoid cell lineage, inflammation and expansion of proinflammatory immune cells. © 2013 S. Karger AG, Basel.

  8. Male Hypogonadism and Germ Cell Loss Caused by a Mutation in Polo-Like Kinase 4

    Science.gov (United States)

    Harris, Rebecca M.; Weiss, Jeffrey

    2011-01-01

    The genetic etiologies of male infertility remain largely unknown. To identify genes potentially involved in spermatogenesis and male infertility, we performed genome-wide mutagenesis in mice with N-ethyl-N-nitrosourea and identified a line with dominant hypogonadism and patchy germ cell loss. Genomic mapping and DNA sequence analysis identified a novel heterozygous missense mutation in the kinase domain of Polo-like kinase 4 (Plk4), altering an isoleucine to asparagine at residue 242 (I242N). Genetic complementation studies using a gene trap line with disruption in the Plk4 locus confirmed that the putative Plk4 missense mutation was causative. Plk4 is known to be involved in centriole formation and cell cycle progression. However, a specific role in mammalian spermatogenesis has not been examined. PLK4 was highly expressed in the testes both pre- and postnatally. In the adult, PLK4 expression was first detected in stage VIII pachytene spermatocytes and was present through step 16 elongated spermatids. Because the homozygous Plk4I242N/I242N mutation was embryonic lethal, all analyses were performed using the heterozygous Plk4+/I242N mice. Testis size was reduced by 17%, and histology revealed discrete regions of germ cell loss, leaving only Sertoli cells in these defective tubules. Testis cord formation (embryonic day 13.5) was normal. Testis histology was also normal at postnatal day (P)1, but germ cell loss was detected at P10 and subsequent ages. We conclude that the I242N heterozygous mutation in PLK4 is causative for patchy germ cell loss beginning at P10, suggesting a role for PLK4 during the initiation of spermatogenesis. PMID:21791561

  9. International trade causes large net economic losses in tropical countries via the destruction of ecosystem services.

    Science.gov (United States)

    Chang, Junning; Symes, William S; Lim, Felix; Carrasco, L Roman

    2016-05-01

    Despite the large implications of the use of tropical land for exports ("land absorption") on ecosystem services (ES) and global biodiversity conservation, the magnitude of these externalities is not known. We quantify the net value of ES lost in tropical countries as a result of cropland, forestland and pastureland absorption for exports after deducting ES gains through imports ("land displacement"). We find that net ES gains occur only in 7 out of the 41 countries and regions considered. We estimate global annual net losses of over 1.7 x 10(12) international dollars (I$) (I$1.1 x 10(12) if carbon-related services are not considered). After deducting the benefits from agricultural, forest and livestock rents in land replacing tropical forests, the net annual losses are I$1.3 and I$0.7 x 10(12), respectively. The results highlight the large magnitude of tropical ES losses through international trade that are not compensated by the rents of land uses in absorbed land.

  10. Trauma, a new cause of death, disability and economic loss in Juba

    African Journals Online (AJOL)

    2011-05-02

    May 2, 2011 ... 6 weeks. Figure 1 shows that road traffic accidents (RTA) were the commonest cause of injury .... Nagy for helping with computer work. ... displaced and compressed resulting in a secondary obstruction of the left sided foramen ...

  11. A Case Report of Unilateral Severe Visual Loss Along with Bilateral Optic Disc Cupping Secondary to Metastatic Brain Tumor

    Directory of Open Access Journals (Sweden)

    M Mahdavi

    2006-07-01

    Full Text Available Purpose: To report a case of unilateral severe visual loss and bilateral optic disc cupping secondary to brain metastasis of bronchogenic carcinoma Patient and findings: A 48 year-old woman presented with severe visual loss of left eye without redness or pain or any systemic findings .Clinical findings included decreased visual acuity of left eye to 4 m CF and (+3 positive Marcus-Gunn reflex .There was asymmetric optic disc cupping associated with visual field defect in left eye The neurologic investigations showed a secondary metastatic tumor in the brain from bronchogenic carcinoma. Conclusion: Before making a diagnosis of normal -tension glaucoma in asymmetric optic disc cupping and normal intraocular pressure, ophthalmologists should rule out neurologic defects and brain tumors.

  12. TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila

    Directory of Open Access Journals (Sweden)

    Lies Vanden Broeck

    2013-01-01

    Full Text Available TDP-43 proteinopathy is strongly implicated in the pathogenesis of amyotrophic lateral sclerosis and related neurodegenerative disorders. Whether TDP-43 neurotoxicity is caused by a novel toxic gain-of-function mechanism of the aggregates or by a loss of its normal function is unknown. We increased and decreased expression of TDP-43 (dTDP-43 in Drosophila. Although upregulation of dTDP-43 induced neuronal ubiquitin and dTDP-43-positive inclusions, both up- and downregulated dTDP-43 resulted in selective apoptosis of bursicon neurons and highly similar transcriptome alterations at the pupal-adult transition. Gene network analysis and genetic validation showed that both up- and downregulated dTDP-43 directly and dramatically increased the expression of the neuronal microtubule-associated protein Map205, resulting in cytoplasmic accumulations of the ecdysteroid receptor (EcR and a failure to switch EcR-dependent gene programs from a pupal to adult pattern. We propose that dTDP-43 neurotoxicity is caused by a loss of its normal function.

  13. Climate impact of idealized winter polar mesospheric and stratospheric ozone losses as caused by energetic particle precipitation

    Science.gov (United States)

    Meraner, Katharina; Schmidt, Hauke

    2018-01-01

    Energetic particles enter the polar atmosphere and enhance the production of nitrogen oxides and hydrogen oxides in the winter stratosphere and mesosphere. Both components are powerful ozone destroyers. Recently, it has been inferred from observations that the direct effect of energetic particle precipitation (EPP) causes significant long-term mesospheric ozone variability. Satellites observe a decrease in mesospheric ozone up to 34 % between EPP maximum and EPP minimum. Stratospheric ozone decreases due to the indirect effect of EPP by about 10-15 % observed by satellite instruments. Here, we analyze the climate impact of winter boreal idealized polar mesospheric and polar stratospheric ozone losses as caused by EPP in the coupled Max Planck Institute Earth System Model (MPI-ESM). Using radiative transfer modeling, we find that the radiative forcing of mesospheric ozone loss during polar night is small. Hence, climate effects of mesospheric ozone loss due to energetic particles seem unlikely. Stratospheric ozone loss due to energetic particles warms the winter polar stratosphere and subsequently weakens the polar vortex. However, those changes are small, and few statistically significant changes in surface climate are found.

  14. Climate impact of idealized winter polar mesospheric and stratospheric ozone losses as caused by energetic particle precipitation

    Directory of Open Access Journals (Sweden)

    K. Meraner

    2018-01-01

    Full Text Available Energetic particles enter the polar atmosphere and enhance the production of nitrogen oxides and hydrogen oxides in the winter stratosphere and mesosphere. Both components are powerful ozone destroyers. Recently, it has been inferred from observations that the direct effect of energetic particle precipitation (EPP causes significant long-term mesospheric ozone variability. Satellites observe a decrease in mesospheric ozone up to 34 % between EPP maximum and EPP minimum. Stratospheric ozone decreases due to the indirect effect of EPP by about 10–15 % observed by satellite instruments. Here, we analyze the climate impact of winter boreal idealized polar mesospheric and polar stratospheric ozone losses as caused by EPP in the coupled Max Planck Institute Earth System Model (MPI-ESM. Using radiative transfer modeling, we find that the radiative forcing of mesospheric ozone loss during polar night is small. Hence, climate effects of mesospheric ozone loss due to energetic particles seem unlikely. Stratospheric ozone loss due to energetic particles warms the winter polar stratosphere and subsequently weakens the polar vortex. However, those changes are small, and few statistically significant changes in surface climate are found.

  15. Long-term fertilisation causes excess supply and loss of phosphorus in purple paddy soil.

    Science.gov (United States)

    Zhang, Yue-Qiang; Wen, Ming-Xia; Li, Xue-Ping; Shi, Xiao-Jun

    2014-04-01

    Phosphorus (P) loss from cropland is accelerating the eutrophication of waters around the world such as the Three Gorges Reservoir (TGR) in China. We investigated whether purple paddy soil under long-term P applications was a major source of P efflux to the TGR. Substantial surplus P in the plough layer (0-20 cm) was evident after 15-year P applications. Available P (Olsen-P) in the plough layer ranged from 1.9 to 42.4 mg kg(-1) and some of which will exceed the threshold of 30 mg kg(-1) for environmental concern within 7 years of P application (inorganic NPK with or without organic fertiliser). Between 30 and 70% of Olsen-P was leached out of the 0-30 cm soil layer. Surplus P resulted in high P concentrations in the surface water during the rice cropping season, and these concentrations exceeded those in most waters of the TGR and exceeded the critical level for eutrophication (0.1 mg L(-1)) during the first 10 days after rice planting. Furthermore, total P in run-off due to rainfall events exceeded the level for eutrophication, with a total loss of 43.2-147.9 g P ha(-1) depending on the fertilisation. Current agronomic P management in purple paddy soil is environmentally unsustainable in terms of the adverse impact on surface water quality. Integrated P management practices are urgently required to optimise crop yield while minimising P loss in order to protect surface water quality in the TGR region. © 2013 Society of Chemical Industry.

  16. The emotional impact of loss narratives: event severity and narrative perspectives.

    Science.gov (United States)

    Habermas, Tilmann; Diel, Verena

    2010-06-01

    Out of the complex influences of event, narrative and listener characteristics on narrative emotions, this paper focuses on event severity, narrative perspectives, mood, and dispositions for emotion regulation and empathy. Event severity and perspective representation were systematically varied in sad autobiographical narratives to study their influence on quantity and quality of readers' emotional response. Each of three stories were manipulated to contain elaborated perspectives, only the past protagonists' perspective (dramatic narration), and very little perspectives at all (impersonal narration). We predicted that event severity influences the quantity of emotional response, while degree of perspective representation influences plausibility and whether emotional responses are sympathetic or interactional, that is, directed against the narrator. Hypotheses were confirmed except for plausibility, and perspective representation had an effect only on anger against and dislike of the narrator. In a second study, impersonal narration evoked anger at and negative evaluations of the narrator which were related to blaming the narrator for showing too little emotional involvement. The generalizability of findings across emotions and implications for sharing of emotions in everyday and clinical settings are discussed.

  17. [Persistent pulmonary hypertension in a neonate caused by blood aspiration following vaginal blood loss].

    Science.gov (United States)

    Krüse-Ruijter, M F; Zimmermann, L J I

    2007-07-14

    A preterm neonate, with a gestational age of 30 1/7 weeks, was born after a period of prolonged rupture of the membranes and a retroplacental haematoma causing vaginal bleeding. During admission to the neonatal intensive-care unit, mechanical ventilation was indicated because of acute respiratory failure following blood aspiration, which was causing oxygenation and ventilation problems. Endotracheal surfactant was administered and, because of persistent pulmonary hypertension of the newborn (PPHN), NO-inhalation therapy was started. A quick recovery was seen and two days post partum the patient could be extubated. Blood aspiration may cause acute respiratory problems and PPHN, with quick recovery after effective mechanical ventilation, surfactant and NO-inhalation therapy.

  18. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

    NARCIS (Netherlands)

    Gennery, A.R.; Slatter, M.A.; Rice, J.; Hoefsloot, L.H.; Barge, D.; McLean-Tooke, A.; Montgomery, T.; Goodship, J.A.; Burt, A.D.; Flood, T.J.; Abinun, M.; Cant, A.J.; Johnson, D.

    2008-01-01

    More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are

  19. Lacrimal punctum occlusion in the treatment of severe keratoconjunctivitis sicca caused by Sjogren syndrome - A uniocular evaluation

    NARCIS (Netherlands)

    Mansour, Khaled; Leonhardt, Carolien J.; Kalk, Wouter W.; Bootsma, Hendrika; Bruin, Klaas J.; Blanksma, Lieuwe J.

    Purpose: A controlled uniocular study to evaluate the short-term efficacy of lacrimal punctum occlusion in the treatment of severe dry eye caused by Sjogren syndrome. Methods: Uniocular punctum occlusion by punctum plug in the upper and lower puncta in 1 eye was performed in 20 patients with severe

  20. Increased risk of all-cause mortality and renal graft loss in stable renal transplant recipients with hyperparathyroidism.

    Science.gov (United States)

    Pihlstrøm, Hege; Dahle, Dag Olav; Mjøen, Geir; Pilz, Stefan; März, Winfried; Abedini, Sadollah; Holme, Ingar; Fellström, Bengt; Jardine, Alan G; Holdaas, Hallvard

    2015-02-01

    Hyperparathyroidism is reported in 10% to 66% of renal transplant recipients (RTR). The influence of persisting hyperparathyroidism on long-term clinical outcomes in RTR has not been examined in a large prospective study. We investigated the association between baseline parathyroid hormone (PTH) levels and major cardiovascular events, renal graft loss, and all-cause mortality by Cox Proportional Hazard survival analyses in 1840 stable RTR derived from the Assessment of LEscol in Renal Transplantation trial. Patients were recruited in a mean of 5.1 years after transplantation, and follow-up time was 6 to 7 years. Significant associations between PTH and all 3 outcomes were found in univariate analyses. When adjusting for a range of plausible confounders, including measures of renal function and serum mineral levels, PTH remained significantly associated with all-cause mortality (4% increased risk per 10 units; P=0.004), and with graft loss (6% increased risk per 10 units; PHyperparathyroidism is an independent, potentially remediable, risk factor for renal graft loss and all-cause mortality in RTR.

  1. Relating fire-caused change in forest structure to remotely sensed estimates of fire severity

    Science.gov (United States)

    Jamie M. Lydersen; Brandon M. Collins; Jay D. Miller; Danny L. Fry; Scott L. Stephens

    2016-01-01

    Fire severity maps are an important tool for understanding fire effects on a landscape. The relative differenced normalized burn ratio (RdNBR) is a commonly used severity index in California forests, and is typically divided into four categories: unchanged, low, moderate, and high. RdNBR is often calculated twice--from images collected the year of the fire (initial...

  2. Anthropogenic causes of wetland loss and degradation in the lower Kłodnica valley (southern Poland

    Directory of Open Access Journals (Sweden)

    Wójcicki Krzysztof J.

    2015-12-01

    Full Text Available Loss and degradation of wetlands is now one of the most important environmental issues on a global scale. Previous research based on analyses of cartographic materials allow for quantification of changes in wetland area in recent centuries. The results of lithological research of peat cores, reported in this publication, have established that the processes of anthropogenic loss of wetlands can be much older and in the Kłodnica valley were initiated in the first millennium BC. As a result of increased mineral sedimentation accompanying soil erosion some peatlands have been fossilized whilst the area of others has been reduced. In total, the surface area of peat-forming wetlands in the bottom of the Kłodnica valley decreased by over 60% between the time of the Lusatian Culture settlement and the Middle Ages. Post-peatland habitats are recently used for agricultural or colonized by non-peat forming vegetation. These processes have played a more important role in the degradation of peatland ecosystems than the direct human impact in historic times. Changes in hydrographic networks, land drainage and regulation of water levels in rivers and canals in the last century have contributed to further reducing the wetland areas by almost 50% compared to the 1880s. These processes, however, have mainly affected ephemeral non-peat forming wetlands.

  3. Study On Budget Revenue Collection, Shadow Economy and Tax Losses Caused By It

    Directory of Open Access Journals (Sweden)

    Radu Claudia Florina

    2017-06-01

    Full Text Available Tax avoidance is a phenomenon faced by all countries, to a lesser or greater extent, and we can say that it has begun to manifest itself since the introduction of taxes. It is known that generally taxes are not pleasing to taxpayers, especially when their level is high. However, it is important for individuals, as a whole, not to evade from their tax obligations. In this context taxes can be regarded as a necessary evil to ensure the resources needed for state functioning. But often some taxpayers are looking for ways to avoid taxes, engaging either in tax evasion to the shelter of the law or in fraudulent evasion. In this paper we present some of the aspects that motivate individuals to pay taxes. Also we analyze the situation of budgetary revenues in Alba County and also the evolution of the main income of consolidated general budget in Romania. In the end of the paper we intend to draw a parallel between shadow economy, tax burden and tax losses due to shadow economy for a sample of 32 countries. In this way we can see where underground economy and tax losses have the highest values and where are required measures to mitigate them.

  4. Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

    International Nuclear Information System (INIS)

    Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan

    2005-01-01

    Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss

  5. Renal allograft loss in the first post-operative month: causes and consequences.

    LENUS (Irish Health Repository)

    Phelan, Paul J

    2013-01-15

    Early transplant failure is a devastating outcome after kidney transplantation. We report the causes and consequences of deceased donor renal transplant failure in the first 30 d at our center between January 1990 and December 2009. Controls were adult deceased donor transplant patients in the same period with an allograft that functioned >30 d. The incidence of early graft failure in our series of 2381 consecutive deceased donor transplants was 4.6% (n = 109). The causes of failure were allograft thrombosis (n = 48; 44%), acute rejection (n = 19; 17.4%), death with a functioning allograft (n = 17; 15.6%), primary non-function (n = 14;12.8%), and other causes (n = 11; 10.1%). Mean time to allograft failure was 7.3 d. There has been a decreased incidence of all-cause early failure from 7% in 1990 to <1% in 2009. Patients who developed early failure had longer cold ischemia times when compared with patients with allografts lasting >30 d (p < 0.001). Early allograft failure was strongly associated with reduced patient survival (p < 0.001). In conclusion, early renal allograft failure is associated with a survival disadvantage, but has thankfully become less common in recent years.

  6. Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's Disease

    DEFF Research Database (Denmark)

    Somavarapu, Arun Kumar; Kepp, Kasper Planeta

    2016-01-01

    Nearly 200 mutations in the gene coding for presenilin 1 (PSEN1) cause early-onset Alzheimer's Disease, yet the molecular mechanism remains obscure. As a meta-analysis, we compiled available clinical and biochemical data for PSEN1 variants and correlated these to chemical properties of the mutant...

  7. Tau causes synapse loss without disrupting calcium homeostasis in the rTg4510 model of tauopathy.

    Directory of Open Access Journals (Sweden)

    Katherine J Kopeikina

    Full Text Available Neurofibrillary tangles (NFTs of tau are one of the defining hallmarks of Alzheimer's disease (AD, and are closely associated with neuronal degeneration. Although it has been suggested that calcium dysregulation is important to AD pathogenesis, few studies have probed the link between calcium homeostasis, synapse loss and pathological changes in tau. Here we test the hypothesis that pathological changes in tau are associated with changes in calcium by utilizing in vivo calcium imaging in adult rTg4510 mice that exhibit severe tau pathology due to over-expression of human mutant P301L tau. We observe prominent dendritic spine loss without disruptions in calcium homeostasis, indicating that tangles do not disrupt this fundamental feature of neuronal health, and that tau likely induces spine loss in a calcium-independent manner.

  8. Incidence and main causes of severe maternal morbidity in São Luís, Maranhão, Brazil: a longitudinal study

    Directory of Open Access Journals (Sweden)

    Ana Paula Pierre Moraes

    Full Text Available CONTEXT AND OBJECTIVE: Evaluation of severe maternal morbidity has been used in monitoring of maternal health. The objective of this study was to estimate its incidence and main causes in São Luís, Maranhão, Brazil. DESIGN AND SETTING: Prospective longitudinal study, carried out in two public high-risk maternity hospitals and two public intensive care units (ICUs for referral of obstetric cases from the municipality. METHODS: Between March 1, 2009, and February 28, 2010, all cases of severe maternal morbidity according to the Mantel and Waterstone criteria were identified. The sociodemographic and healthcare characteristics of the extremely severe cases were compared with the less severe cases, using the Fisher, Χ2, Student t and Mann-Whitney tests, with a significance level of < 0.05. RESULTS: 127 cases of severe maternal morbidity were identified among 8,493 deliveries, i.e. an incidence of 15.0/1000 deliveries. Out of 122 cases interviewed, 121 cases were within the Waterstone criteria and 29 were within the Mantel criteria, corresponding to incidences of 14.1/1000 and 3.4/1000 deliveries, respectively. These rates were lower than those described in the literature, possibly due to case loss. The main causes were hypertension during pregnancy, which was more frequent in less severe cases (P = 0.001 and obstetric hemorrhage, which was more common among extremely severe cases (P = 0.01. CONCLUSIONS: Direct obstetric disorders were the main causes of severe maternal morbidity in São Luís, Maranhão. Investigation and monitoring of severe morbidity may contribute towards improving obstetric care in the municipality.

  9. Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region

    Directory of Open Access Journals (Sweden)

    Yongzhi Liu

    Full Text Available Abstract The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486, Mongolian (n=216, Manchurian (n=24, Hui (n=6 and Daur (n=6. Nine common mutations in four genes (GJB2, SLC26A4, GJB3 and mitochondrial MT-RNR1 gene were detected by allele-specific PCR and universal array. At least one mutated allele was detected in 282 patients. Pathogenic mutations were detected in 168 patients: 114 were homozygotes and 54 were compound heterozygotes. The 114 patients were carriers of only one mutated allele. The frequency of GJB2 variants in Han Chinese (21.0% was higher than that in Mongolians (16.7%, but not significantly different. On the other hand, the frequency of SLC26A4 variants in Han Chinese (14.8% was lower than that in Mongolians (19.4%, but also not significantly different. The frequency of patients with pathogenic mutations was different in Ulanqab (21.4%, Xilingol (40.0%, Chifeng (40.0%, Hulunbeier (30.0%, Hohhot (26.3%, and in Baotou (0%. In conclusion, the frequency of mutated alleles in deafness-related genes did not differ between Han Chinese and Mongolians. However, differences in the distribution of common deafness-related mutations were found among the investigated areas of Inner Mongolia.

  10. Does microtia predict severity of temporal bone CT abnormalities in children with persistent conductive hearing loss?

    Science.gov (United States)

    Tekes, Aylin; Ishman, Stacey L; Baugher, Katherine M; Brown, David J; Lin, Sandra Y; Tunkel, David E; Unalp-Arida, Aynur; Huisman, Thierry A G M

    2013-07-01

    This study aimed to determine the spectrum of temporal bone computed tomography (CT) abnormalities in children with conductive hearing loss (CHL) with and without microtia. From 1993 to 2008, a total of 3396 pediatric records including CHL were reviewed at our institution and revealed 180 cases of persistent CHL, 46 of whom had diagnostic temporal bone CT examinations. All of these examinations were systematically reviewed by two pediatric neuroradiologists, working in consensus, who had 5 and 18 years, respectively, of dedicated pediatric neuroradiology experience. Of the 46 children, 16 were boys and 30 were girls (age: 0.2-16 years; mean: 5 years). Also, 21 (46%) children had microtia and 25 (54%) children did not, as determined by clinical evaluation. External auditory canal atresia/stenosis (EAC-A/S) was the most common anomaly in both microtia and non-microtia groups. Two or more anomalies were observed in 18/21 children with microtia. The frequency of EAC-A/S was greater in children with microtia versus those without it (86% versus 32%, respectively; P = 0.0003). Syndromic diagnoses were also significantly more frequently made in children with microtia versus those without microtia (76% versus 20%, respectively; P = 0.0001). Temporal bone CT scans were normal in 10 children (22%) with persistent CHL. Microtia is an important finding in children with CHL. EAC and middle ear/ossicle anomalies were significantly more frequently seen in children with microtia, and multiple anomalies and bilateral microtia were more common in children with syndromic associations. These findings highlight the importance of understanding the embryological development of the temporal bone. The presence of one anomaly should raise suspicion of the possibility of other anomalies, especially in the setting of microtia. Bilateral microtia and multiple anomalies should also raise suspicion of genetic syndromes. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  11. A Simple Method for Estimating the Economic Cost of Productivity Loss Due to Blindness and Moderate to Severe Visual Impairment.

    Science.gov (United States)

    Eckert, Kristen A; Carter, Marissa J; Lansingh, Van C; Wilson, David A; Furtado, João M; Frick, Kevin D; Resnikoff, Serge

    2015-01-01

    To estimate the annual loss of productivity from blindness and moderate to severe visual impairment (MSVI) using simple models (analogous to how a rapid assessment model relates to a comprehensive model) based on minimum wage (MW) and gross national income (GNI) per capita (US$, 2011). Cost of blindness (COB) was calculated for the age group ≥50 years in nine sample countries by assuming the loss of current MW and loss of GNI per capita. It was assumed that all individuals work until 65 years old and that half of visual impairment prevalent in the ≥50 years age group is prevalent in the 50-64 years age group. For cost of MSVI (COMSVI), individual wage and GNI loss of 30% was assumed. Results were compared with the values of the uncorrected refractive error (URE) model of productivity loss. COB (MW method) ranged from $0.1 billion in Honduras to $2.5 billion in the United States, and COMSVI ranged from $0.1 billion in Honduras to $5.3 billion in the US. COB (GNI method) ranged from $0.1 million in Honduras to $7.8 billion in the US, and COMSVI ranged from $0.1 billion in Honduras to $16.5 billion in the US. Most GNI method values were near equivalent to those of the URE model. Although most people with blindness and MSVI live in developing countries, the highest productivity losses are in high income countries. The global economy could improve if eye care were made more accessible and more affordable to all.

  12. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

    Science.gov (United States)

    Oji, Vinzenz; Eckl, Katja-Martina; Aufenvenne, Karin; Nätebus, Marc; Tarinski, Tatjana; Ackermann, Katharina; Seller, Natalia; Metze, Dieter; Nürnberg, Gudrun; Fölster-Holst, Regina; Schäfer-Korting, Monika; Hausser, Ingrid; Traupe, Heiko; Hennies, Hans Christian

    2010-08-13

    Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past.

  13. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

    Directory of Open Access Journals (Sweden)

    Damien F Hudson

    2016-12-01

    Full Text Available Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.

  14. Personal cassette players ('Walkman'). Do they cause noise-induced hearing loss?

    Science.gov (United States)

    Turunen-Rise, I; Flottorp, G; Tvete, O

    1991-01-01

    Playing selected types of music on five different personal cassette players (PCPs) and using different gain (volume) settings, A-weighted maximum and equivalent sound pressure levels (SPLs) were measured on KEMAR (Knowles Electronics Manikin for Acoustic Research). The octave band SPLs were measured on KEMAR ear and transformed to field values in order to compare measured values with the Norwegian noise risk criteria. Temporary threshold shifts (TTS) measured in 6 subjects after listening to two different pop music cassettes on one PCP in two separate sessions, are presented. Based upon these studies we conclude that the risk of acquiring permanent noise-induced hearing loss (NIHL) from use of PCP is very small for what we found to be normal listening conditions.

  15. Different clinical features of anaphylaxis according to cause and risk factors for severe reactions

    Directory of Open Access Journals (Sweden)

    Sang-Yoon Kim

    2018-01-01

    Conclusions: More severe anaphylaxis developed with drug treatment and in males. Low rate of epinephrine prescription was also observed. Male patients with drug induced anaphylaxis should be paid more attention.

  16. Loss of Igfbp7 causes precocious involution in lactating mouse mammary gland.

    Directory of Open Access Journals (Sweden)

    Sumanta Chatterjee

    Full Text Available BACKGROUND: Insulin like growth factors (IGFs and their binding proteins (IGFBPs are secreted peptides that play major roles in regulating the normal development and maturation of mammary gland. While Igfbp7 has been shown to decrease breast tumor growth, its role in regulating the normal mammary gland development has not been studied. To this end, we generated Igfbp7-null mice and examined the development and maturation of mammary glands in the virgin, pregnant and lactating animals. RESULTS: We report here that loss of Igfbp7 significantly retards mammary gland development in the virgin animals. More significantly, the pregnant Igfpb7-null glands contained fewer alveolar structures and that during lactation these glands exhibit the morphological changes that are associated with involution. The transcriptome profile of the Igfbp7-null glands on the lactation day 3 revealed a distinct involution-related gene signature compared to the lactating WT glands. Interestingly, we found that the lactating Igfbp7-null glands exhibit increased expression of Stat3 and enhanced activation of (phosphorylated Stat3, combined with decreased expression of Stat5 suggesting that the absence of Igfbp7 accelerates the onset of involution. We also found that in absence of Igfpb7, the lactating glands contain increased Igfbp5 protein along with decreased expression of IGF-1 Receptor and Akt activation. Finally, we show that during the normal course of involution, Igfbp7 expression is significantly decreased in the mammary gland. CONCLUSION: Our data suggest that loss of Igfbp7 induces precocious involution possibly through diminished cell survival signals. Our findings identify Igfbp7 as major regulator of involution in the mammary gland.

  17. Trends and causes of severity, size, and number of fires in northwestern California, USA.

    Science.gov (United States)

    Miller, J D; Skinner, C N; Safford, H D; Knapp, E E; Ramirez, C M

    2012-01-01

    Research in the last several years has indicated that fire size and frequency are on the rise in western U.S. forests. Although fire size and frequency are important, they do not necessarily scale with ecosystem effects of fire, as different ecosystems have different ecological and evolutionary relationships with fire. Our study assessed trends and patterns in fire size and frequency from 1910 to 2008 (all fires > 40 ha), and the percentage of high-severity in fires from 1987 to 2008 (all fires > 400 ha) on the four national forests of northwestern California. During 1910-2008, mean and maximum fire size and total annual area burned increased, but we found no temporal trend in the percentage of high-severity fire during 1987-2008. The time series of severity data was strongly influenced by four years with region-wide lightning events that burned huge areas at primarily low-moderate severity. Regional fire rotation reached a high of 974 years in 1984 and fell to 95 years by 2008. The percentage of high-severity fire in conifer-dominated forests was generally higher in areas dominated by smaller-diameter trees than in areas with larger-diameter trees. For Douglas-fir forests, the percentage of high-severity fire did not differ significantly between areas that re-burned and areas that only burned once (10% vs. 9%) when re-burned within 30 years. Percentage of high-severity fire decreased to 5% when intervals between first and second fires were > 30 years. In contrast, in both mixed-conifer and fir/high-elevation conifer forests, the percentage of high-severity fire was less when re-burned within 30 years compared to first-time burned (12% vs. 16% for mixed conifer; 11% vs. 19% for fir/high-elevation conifer). Additionally, the percentage of high-severity fire did not differ whether the re-burn interval was less than or greater than 30 years. Years with larger fires and greatest area burned were produced by region-wide lightning events, and characterized by less winter

  18. Severe Pneumonia Caused by Legionella pneumophila: Differential Diagnosis and Therapeutic Considerations.

    Science.gov (United States)

    Chahin, Abdullah; Opal, Steven M

    2017-03-01

    Severe legionella pneumonia poses a diagnostic challenge and requires early intervention. Legionnaire's disease can have several presenting signs, symptoms, and laboratory abnormalities that suggest that Legionella pneumophila is the pathogen, but none of these are sufficient to distinguish L pneumophila pneumonia from other respiratory pathogens. L pneumophila is primarily an intracellular pathogen and needs treatment with antibiotics that efficiently enter the intracellular space. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Loss of parental role as a cause of stress in the neonatal intensive care unit.

    Science.gov (United States)

    Bouet, Kary M; Claudio, Norma; Ramirez, Verónica; García-Fragoso, Lourdes

    2012-01-01

    Having a baby in the Neonatal Intensive Care Unit (NICU) is a major source of stress for parents. The barriers to parenting and reactions to the environment may negatively influence the parent-infant relationship. To identify NICU-related parental stress and associated factors. Parents (N = 156) of newborns admitted to NICU completed the Parental Stressor Scale. Most of the parents (46%) rated the experience to be extremely stressful. The principal cause of stress was the alteration in parental role and being separated from their baby. Stress was not associated to education, marital status, infants' birth weight, gestational age, congenital anomalies or if the parents expected the baby to be in the NICU. Identification of areas associated to higher levels of stress in parents may help the NICU staff to establish strategies to help parents cope with the stress caused by being unable to start their parenting role immediately after their babies' birth.

  20. Reading strategies of Chinese students with severe to profound hearing loss.

    Science.gov (United States)

    Cheung, Ka Yan; Leung, Man Tak; McPherson, Bradley

    2013-01-01

    The present study investigated the significance of auditory discrimination and the use of phonological and orthographic codes during the course of reading development in Chinese students who are deaf or hard of hearing (D/HH). In this study, the reading behaviors of D/HH students in 2 tasks-a task on auditory perception of onset rime and a synonym decision task-were compared with those of their chronological age-matched and reading level (RL)-matched controls. Cross-group comparison of the performances of participants in the task on auditory perception suggests that poor auditory discrimination ability may be a possible cause of reading problems for D/HH students. In addition, results of the synonym decision task reveal that D/HH students with poor reading ability demonstrate a significantly greater preference for orthographic rather than phonological information, when compared with the D/HH students with good reading ability and their RL-matched controls. Implications for future studies and educational planning are discussed.

  1. [Massive hookworm infection as a cause of intestinal bleeding and severe anemia].

    Science.gov (United States)

    Nair, Gayatri V; Cazorla, Ernesto; Choque, Henry; White, A Clinton; Cabada, Miguel M

    2016-01-01

    Overt gastrointestinal bleeding caused by hookworm infection is rarely reported. We present a 34 year old male with lower gastrointestinal bleeding with evidence of massive hookworm infection on colonoscopy and discuss the need to consider hookworm infection as a possible etiology of gastrointestinal bleed in endemic areas.

  2. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

    Science.gov (United States)

    Pennings, R J E; Kremer, H; Deutman, A F; Kimberling, W J; Cremers, C W R J

    2002-12-07

    Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their own genetic subtypes (Usher 1A-Usher IG, Usher 2A-Usher 2C and Usher 3). The majority of the Usher type I cases are caused by mutations in the MYO7A gene (Usher 1B) while mutations in the USH2A gene (Usher 2A) are the cause of most cases of type II. Usher syndrome type III, caused by mutations in the USH3 gene, is frequently seen only in Finland.

  3. Increasing losses caused by natural disasters: what are the drivers, how is the insurance industry affected, what has to be done?

    Science.gov (United States)

    Hoppe, P.

    2016-12-01

    Losses caused by natural disasters are a major factor influencing the balance sheet of insurers, especially reinsurers. Such events have a high potential of creating extreme accumulation losses by affecting different business lines at the same time. The basis for long term profitable business in the insurance industry is to be able to calculate and also get risk adequate premiums for the covers of natural perils. Risk adequate means that on average over several years the losses occurring can be paid by the premium income. Losses caused by natural disasters have increased tremendously worldwide in the last decades. The main drivers have been changes in the exposed values, i.e. growth of population and wealth in affected regions. For the insurance industry this loss increasing process in general is not a problem as the premiums normally are proportional to the sum insured, i.e. the exposed value. These factors can be quantified and the loss trends can be adjusted for these changes. Munich Re just recently has developed a very sophisticated method for such a normalisation of losses. After this normalization in respect to exposed values a still residual loss trend can be either driven by changes in the vulnerability of assets or on the hazard side. Trends in both factors are not automatically considered in the premiums, they have to be detected, quantified and then built into the risk models of the insurers. Many studies as well as data from the Munich Re NatCatSERVICE suggest that weather related hazards already have changed for some perils and in some regions. Climate research implies that due to global warming such trends will increase in the coming decades. Very little quantitative data, however, on such changes still is available to allow the adjustment of the risk models of insurers. In order to do this, data with high regional resolution and also probabilities of certain scenarios would be necessary. The other gap of information is quantitative data on changes

  4. Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice.

    Science.gov (United States)

    Petkau, Terri L; Blanco, Jake; Leavitt, Blair R

    2017-10-01

    Progranulin deficiency due to heterozygous null mutations in the GRN gene is a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of-function GRN mutations cause neuronal ceroid lipofuscinosis (NCL). Aged progranulin-knockout mice display highly exaggerated lipofuscinosis, microgliosis, and astrogliosis, as well as mild cell loss in specific brain regions. Progranulin is a secreted glycoprotein expressed in both neurons and microglia, but not astrocytes, in the brain. We generated conditional progranulin-knockout mice that lack progranulin in nestin-expressing cells (Nes-cKO mice), which include most neurons as well as astrocytes. We confirmed near complete knockout of progranulin in neurons in Nes-cKO mice, while microglial progranulin levels remained similar to that of wild-type animals. Overall brain progranulin levels were reduced by about 50% in Nes-cKO, and no Grn was detected in primary Nes-cKO neurons. Nes-cKO mice aged to 12months did not display any increase in lipofuscin deposition, microgliosis, or astrogliosis in the four brain regions examined, though increases were observed for most of these measures in Grn-null animals. We conclude that neuron-specific loss of progranulin is not sufficient to cause similar neuropathological changes to those seen in constitutive Grn-null animals. Our results suggest that increased lipofuscinosis and gliosis in Grn-null animals are not caused by intrinsic progranulin deficiency in neurons, and that microglia-derived progranulin may be sufficient to maintain neuronal health and homeostasis in the brain. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Observations on cortical blindness and on vascular lesions that cause loss of recent memory

    Science.gov (United States)

    Brindley, G. S.; Janota, I.

    1975-01-01

    Two long-surviving cases of cortical blindness are described, one total and the other total except for detection of sudden transitions from light to darkness and darkness to light. Both suffered from severe defect of recent memory, which lasted a month in one, and till death after nearly six years in the other. One patient survives. Necropsy findings on the other are given. Images PMID:1151413

  6. Severe ischemic bowel necrosis caused by terlipressin during treatment of hepatorenal syndrome

    Directory of Open Access Journals (Sweden)

    Hae Rim Kim

    2013-12-01

    Full Text Available Terlipressin is a vasopressin analogue that is widely used in the treatment of hepatorenal syndrome or variceal bleeding. Because it acts mainly on splanchnic vessels, terlipressin has a lower incidence of severe ischemic complications than does vasopressin. However, it can still lead to serious complications such as myocardial infarction, skin necrosis, or bowel ischemia. Herein we report a case of severe ischemic bowel necrosis in a 46-year-old cirrhotic patient treated with terlipressin. Although the patient received bowel resection, death occurred due to ongoing hypotension and metabolic acidosis. Attention should be paid to patients complaining of abdominal pain during treatment with terlipressin.

  7. Conductive hearing loss with an intact tympanic membrane due to non-inflammatory causes.

    Science.gov (United States)

    Choi, Jin Hyuk; Lee, Min Young; Park, Ji Hye; Lee, Kyu-Yup; Lee, Sang Heun; Jang, Jeong Hun

    2016-04-01

    We analyzed audiologic and surgical findings in patients with conductive hearing loss (CHL) with an intact tympanic membrane (TM) that was of a non-inflammatory origin. We reviewed data from patients who underwent exploratory tympanotomy for CHL with intact TM from January 1995 to November 2012. Patients with diseases of non-inflammatory origin were enrolled (69 patients; 79 ears). Patients were categorized into two groups: non-trauma (50 ears) and trauma (29 ears). Demographic data, intraoperative findings, and audiologic results were obtained and analyzed. Overall, the second decade was the most common age of diagnosis in both the non-trauma and trauma groups. Operative findings showed that ossicular dislocation was more prevalent than ossicular fixation; all trauma group subjects had ossicular dislocation. Short columellization or partial ossicular replacement was the most frequently adopted surgical procedures in both groups. Overall, audiologically, air-conduction thresholds (ACs) and air-bone gaps were significantly improved over the short- and long-term period in both groups. However, the non-trauma group had significantly higher preoperative ACs than the trauma group, especially at low frequencies. This study provides clinicians with useful information regarding the clinical characteristics of CHL with intact TM of non-inflammatory origin. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. Loss of Efficacy to Spinal Cord Stimulator Therapy: Clinical Evidence and Possible Causes.

    Science.gov (United States)

    Aiudi, Christopher M; Dunn, Roger Y; Burns, Sara M; Roth, Sarah A; Opalacz, Arissa; Zhang, Yi; Chen, Lucy; Mao, Jianren; Ahmed, Shihab U

    2017-11-01

    Although spinal cord stimulation (SCS) therapy has been shown to be efficacious in various pain conditions, the ability for SCS therapy to maintain long-term efficacy has been questioned. The purpose of this study was to investigate whether a loss of efficacy (LOE) phenomenon exists with SCS therapy and to investigate if this phenomenon is more apparent in any specific patient population. A retrospective, observation chart review was conducted to evaluate the patient response to SCS therapy over time. Massachusetts General Hospital, Boston, Massachusetts. Patients who received a SCS at the Massachusetts General Hospital, between January 1, 2002 and December 31, 2012, were invited to participate. A total of 62 patients were included in this study. Various models were created to analyze pain score changes over time using 2-tailed statistical analysis. Additionally, one-way ANOVA and Pearson's chi-square tests were used to determine if certain patient characteristics were associated with LOE. Compared to the visual analog scale (VAS) score at one month after device implantation, pain scores increased 1.95 points after 2 years (95% CI: 1.06 to 2.84, P = patient characteristic that helped predict LOE. However, patients who have significant baseline response to therapy may be more likely to experience LOE. Spinal cord stimulation, chronic pain, retrospective study, low frequency electrical stimulation, efficacy, chronic pain therapy.

  9. Nuclear SREBP-1a causes loss of pancreatic β-cells and impaired insulin secretion

    International Nuclear Information System (INIS)

    Iwasaki, Yuko; Iwasaki, Hitoshi; Yatoh, Shigeru; Ishikawa, Mayumi; Kato, Toyonori; Matsuzaka, Takashi; Nakagawa, Yoshimi; Yahagi, Naoya; Kobayashi, Kazuto; Takahashi, Akimitsu; Suzuki, Hiroaki; Yamada, Nobuhiro; Shimano, Hitoshi

    2009-01-01

    Transgenic mice expressing nuclear sterol regulatory element-binding protein-1a under the control of the insulin promoter were generated to determine the role of SREBP-1a in pancreatic β-cells. Only low expressors could be established, which exhibited mild hyperglycemia, impaired glucose tolerance, and reduced plasma insulin levels compared to C57BL/6 controls. The islets isolated from the transgenic mice were fewer and smaller, and had decreased insulin content and unaltered glucagon staining. Both glucose- and potassium-stimulated insulin secretions were decreased. The transgenic islets consistently expressed genes for fatty acids and cholesterol synthesis, resulting in accumulation of triglycerides but not cholesterol. PDX-1, ΒΕΤΑ2, MafA, and IRS-2 were suppressed, partially explaining the loss and dysfunction of β-cell mass. The transgenic mice on a high fat/high sucrose diet still exhibited impaired insulin secretion and continuous β-cell growth defect. Therefore, nuclear SREBP-1a, even at a low level, strongly disrupts β-cell mass and function.

  10. Successful treatment of bilateral visual loss caused by HIV-associated optic neuritis

    Directory of Open Access Journals (Sweden)

    Claire Cullen

    2011-12-01

    Full Text Available Optic neuritis is not an uncommon diagnosis in HIV-infected patients, but it is rarely idiopathic. We report a case of a young HIV-infected woman who developed optic neuritis as her presenting manifestation of HIV infection. She had initially experienced sudden-onset right-sided painful visual loss; the left eye had become involved within days. Bilateral swollen discs were apparent on fundoscopy. Investigations were performed for meningitis (including bacterial, cryptococcal, tuberculous and syphilitic types, auto-immune diseases, toxoplasma, rubella, cytomegalovirus, viral hepatitis, HTLV-1/2, HIV-1/2 and syphilis. The only positive result was a reactive HIV enzyme-linked immunosorbent assay. The CD4 count was 85 cells/µl. A post-contrast magnetic resonance imaging scan of the brain illustrated enhancement of the optic nerves. Treatment was 3 days of intravenous methylprednisolone 1 g daily, followed by 11 days of oral prednisone 60 mg daily. Highly active antiretroviral therapy was initiated after 2 weeks. Vision improved from day 6 after commencement of steroid therapy, with ongoing recovery at 5 months.

  11. Water hammer caused by rapid steam production in a severe accident in a light water reactor

    International Nuclear Information System (INIS)

    Inasaka, Fujio; Adachi, Masaki; Murata, Hiroyuki; Aya, Izuo

    2007-01-01

    We conducted the experimental studies on the water hammer caused by striking of a water mass pushed up by a rapidly growing steam bubble, using a cylindrical model containment vessel of 0.4286 m in diameter. In the experiments, a rapid gas growth was simulated by injecting high-pressure steam into a water pool. It was clarified that coherency of the water mass movement and its water hammer caused by the condensable gas production considerably decreased in comparison with the case of the non-condensable gas production because the rising velocity of the water mass was suppressed due to the steam bubble condensation. On the basis of the data, experimental correlations for estimating the water hammer on the structures in the containment vessel were proposed. (author)

  12. Severe community-acquired pneumonia caused by Mycoplasma pneumoniae in young female patient

    Directory of Open Access Journals (Sweden)

    Milačić Nena

    2015-07-01

    Full Text Available Mycoplasma pneumonia is common agent causing community acquired pneumonia in younger population. However, the course of illness is usually benign and is rarely associated with pulmonary complications. We report a 27 years old female patient with unilateral pneumonia followed by pleural effusion and adhesions on the same side. This potential source of infection should be considered in young patients where resolution of symptoms from pneumonia is delayed.

  13. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    OpenAIRE

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, ...

  14. A mutation in the centriole-associated protein centrin causes genomic instability via increased chromosome loss in Chlamydomonas reinhardtii

    Directory of Open Access Journals (Sweden)

    Marshall Wallace F

    2005-05-01

    Full Text Available Abstract Background The role of centrioles in mitotic spindle function remains unclear. One approach to investigate mitotic centriole function is to ask whether mutation of centriole-associated proteins can cause genomic instability. Results We addressed the role of the centriole-associated EF-hand protein centrin in genomic stability using a Chlamydomonas reinhardtii centrin mutant that forms acentriolar bipolar spindles and lacks the centrin-based rhizoplast structures that join centrioles to the nucleus. Using a genetic assay for loss of heterozygosity, we found that this centrin mutant showed increased genomic instability compared to wild-type cells, and we determined that the increase in genomic instability was due to a 100-fold increase in chromosome loss rates compared to wild type. Live cell imaging reveals an increased rate in cell death during G1 in haploid cells that is consistent with an elevated rate of chromosome loss, and analysis of cell death versus centriole copy number argues against a role for multipolar spindles in this process. Conclusion The increased chromosome loss rates observed in a centrin mutant that forms acentriolar spindles suggests a role for centrin protein, and possibly centrioles, in mitotic fidelity.

  15. Frequency, severity and causes of unexpected allergic reactions to food: A systematic literature review

    NARCIS (Netherlands)

    Versluis, A.; Knulst, A.C.; Kruizinga, A.G.; Michelsen, A.; Houben, G.F.; Baumert, J.L.; Os-Medendorp, H. van

    2015-01-01

    Summary: Food allergic patients have to deal with an avoidance diet. Confusing labelling terms or precautionary labels can result in misinterpretation and risk-taking behaviour. Even those patients that strictly adhere to their diet experience (sometimes severe) unexpected allergic reactions to

  16. Teachers' Assumptions Regarding the Severity, Causes, and Outcomes of Behavioral Problems in Preschoolers: Implications for Referral.

    Science.gov (United States)

    Walker, Elaine; And Others

    1984-01-01

    Asked preschool teachers (N=100) to rate severity, long-term outcome, stability, and importance of constitutional and environmental determinants for case vignettes describing three syndromes: aggression, hyperactivity, and withdrawal, and to judge the need for referral. Results indicated little evidence of sex bias in teachers' evaluations of the…

  17. Frequency, severity and causes of unexpected allergic reactions to food : A systematic literature review

    NARCIS (Netherlands)

    Versluis, A.; Knulst, A. C.; Kruizinga, A. G.; Michelsen, A.; Houben, G. F.; Baumert, J. L.; van Os-Medendorp, H.

    2015-01-01

    Summary: Food allergic patients have to deal with an avoidance diet. Confusing labelling terms or precautionary labels can result in misinterpretation and risk-taking behaviour. Even those patients that strictly adhere to their diet experience (sometimes severe) unexpected allergic reactions to

  18. Trends and causes of severity, size, and number of fires in northwestern California, USA

    Science.gov (United States)

    J. D. Miller; Carl Skinner; H. D. Safford; Eric E. Knapp; C. M. Ramirez

    2012-01-01

    Research in the last several years has indicated that fire size and frequency are on the rise in western U.S. forests. Although fire size and frequency are important, they do not necessarily scale with ecosystem effects of fire, as different ecosystems have different ecological and evolutionary relationships with fire. Our study assessed trends and patterns in fire...

  19. Local anesthetic-induced myotoxicity as a cause of severe trismus after inferior alveolar nerve block.

    Science.gov (United States)

    Smolka, Wenko; Knoesel, Thomas; Mueller-Lisse, Ullrich

    2018-01-01

    A case of a 60-year-old man with severe trismus after inferior alveolar nerve block is presented. MRI scans as well as histologic examination revealed muscle fibrosis and degeneration of the medial part of the left temporal muscle due to myotoxicity of a local anesthetic agent.

  20. Contesting the Cause and Severity of the Black Death: A Review Essay

    OpenAIRE

    Noymer, A.

    2007-01-01

    The essay is a book review of Ole J. Benedictow's "The Black Death, 1346-1353: The Complete History". It discusses the history, demography, and epidemiology of the Black Death, an epidemic that struck fourteenth-century Europe with a severity that has not be equaled by any other epidemic in recorded history, before or since.

  1. Cigarette smoke inhalation increases the alveolar bone loss caused by primary occlusal trauma in a rat model.

    Science.gov (United States)

    Campos, M L G; Corrêa, M G; Júnior, F H N; Casati, M Z; Sallum, E A; Sallum, A W

    2014-04-01

    Occlusal trauma (OT) and smoking are both factors that alter alveolar bone metabolism and therefore could synergistically act on alveolar bone loss. The aim of this experimental study was to evaluate the influence of short-term cigarette smoke inhalation (CSI) on inter-radicular alveolar bone loss promoted by primary OT in a rat model. Forty-eight animals were randomly assigned to one of three groups based on treatment type: OT + CSI (n = 16), animals were exposed to CSI three times per day, for 8 min per exposure, and they concomitantly received unilateral vertical augmentation creating an occlusal interference inducing experimental OT; OT (n = 16), animals received only unilateral vertical augmentation; negative control (NC; n = 16), animals maintained for equal periods to achieve periodontal baseline values of periodontal ligament dimension. Each group was divided into two subgroups (n = 8) based on treatment length: 7 or 14 d. After 7 d, the OT + CSI group exhibited significantly higher bone loss compared to the NC group (p = 0.0022). After 14 d, the OT (p < 0.0001) and OT + CSI (p < 0.0001) groups presented significantly higher bone loss compared to the NC group, and OT + CSI resulted in significantly higher bone loss than OT alone (p = 0.0241). The number of tartrate-resistant acid phosphatase-positive cells on the linear surface of the bone crest after 7 d was significantly higher in the OT + CSI group as compared to the NC and OT groups (p < 0.0001 and p = 0.0045, respectively) and remained significantly higher in the OT + CSI group after 14 d, compared to the OT group (p < 0.0001). Short-term CSI increases early bone loss in association with OT after 7 d, and this worsens in severity after 14 d of exposure. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Severe pain as a possible cause of dropped head syndrome that was attenuated after amputation of an ischemic lower limb.

    Science.gov (United States)

    Maki, Satoshi; Koda, Masao; Furuya, Takeo; Takahashi, Kazuhisa; Yamazaki, Masashi

    2016-03-02

    Dropped head syndrome (DHS) is defined as weakness of the neck extensor muscles causing a correctable chin-on-the-chest deformity. Here we report the case of a patient with severe pain from lower leg ischemia showing DHS whose symptoms were attenuated by pain relief after amputation of the severely ischemic lower leg. To our knowledge this is the first report indicating that severe pain can cause DHS. A 64-year-old Asian woman was referred to our department with a 1-month history of DHS. She also suffered from severe right foot pain because of limb ischemia. She began to complain of DHS as her gangrenous foot pain worsened. She had neck pain and difficulty with forward gaze. We found no clinical or laboratory findings of neuromuscular disorder or isolated neck extensor myopathy. We amputated her leg below the knee because of progressive foot gangrene. Her severe foot pain resolved after the surgery and her DHS was attenuated. Severe pain can cause DHS. If a patient with DHS has severe pain in another part of the body, we recommend considering aggressive pain relief as a treatment option.

  3. Hippocampal damage causes retrograde but not anterograde memory loss for context fear discrimination in rats.

    Science.gov (United States)

    Lee, Justin Q; Sutherland, Robert J; McDonald, Robert J

    2017-09-01

    There is a substantial body of evidence that the hippocampus (HPC) plays and essential role in context discrimination in rodents. Studies reporting anterograde amnesia (AA) used repeated, alternating, distributed conditioning and extinction sessions to measure context fear discrimination. In addition, there is uncertainty about the extent of damage to the HPC. Here, we induced conditioned fear prior to discrimination tests and rats sustained extensive, quantified pre- or post-training HPC damage. Unlike previous work, we found that extensive HPC damage spares context discrimination, we observed no AA. There must be a non-HPC system that can acquire long-term memories that support context fear discrimination. Post-training HPC damage caused retrograde amnesia (RA) for context discrimination, even when rats are fear conditioned for multiple sessions. We discuss the implications of these findings for understanding the role of HPC in long-term memory. © 2017 Wiley Periodicals, Inc.

  4. A Giant Brunneroma Causing Gastrointestinal Bleeding and Severe Anemia Requiring Transfusion and Surgery

    Directory of Open Access Journals (Sweden)

    Nicola C. Frenkel

    2017-01-01

    Full Text Available Brunner’s gland hamartoma, also called hyperplasia, adenoma, and Brunneroma, is an extremely rare benign proliferative lesion of Brunner’s glands in the duodenum. While being mostly small and asymptomatic, they can result in gastrointestinal bleeding and obstruction. We report the case of a 54-year-old man presenting with melena and severe anemia requiring blood transfusion. CT scans showed a large mass of 8 cm in diameter, presumably arising in the duodenum. Endoscopic biopsies were not conclusive. As we were unable to determine the nature of the mass preoperatively and due to the severe symptoms, its size, and the uncertain malignant potential, a classic Whipple procedure was performed. The resected specimen showed extensive proliferation of Brunner’s glands without signs of malignancy.

  5. Acquired Factor Xiii Deficiency: An Uncommon But Easily Missed Cause Of Severe Bleeding

    LENUS (Irish Health Repository)

    Fogarty, H

    2018-05-01

    Factor XIII (FXIII) is a plasma clotting protein involved in clot stabilization. Severe FXIII deficiency may present with severe, even fatal bleeding. Critically however, routine coagulation assays may be normal and only specific FXIII assays will detect the abnormality. Herein we discuss a case report of a patient with acquired FXIII deficiency in order to highlight the clinical challenges associated with establishing the diagnosis and discuss the treatment approach. A 70-year-old man presented with a gluteal haematoma despite no preceding personal history of bleeding. Extensive initial haemostatic investigations were normal until a specific FXIII assay showed a marked reduction in FXIII levels. With directed treatment, bleeding episodes ceased and remission was achieved. Clinical awareness of FXIII deficiency is important, so appropriate testing can be implemented in patients with unexplained bleeding diatheses, particularly those in whom bleeding responds poorly to standard replacement therapy.

  6. X-ray analysis of 80 patients with severe endemic fluorosis caused by coal burning

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Z.P.; Yuan, M.B.; Liu, G.F. [Luzhou Medical College, Luzhou (China)

    1996-05-01

    Radiographs of 80 patients with severe endemic fluorosis of coalburning type (CBFF) - 49 males and 31 females aged 30 to 70 years - were analysed to examine the changes to the bone substance, peripheral structure of bone, and joints. The changes to bone substance were: (1) osteosclerosis type, 62 cases (77.5%); (2) mixed type, 16 cases (21.25%); (3) osteoporosis type, one case (1.25%); (4) osteomalacia type, one case (1.25%). The changes to the joints were found in the hips and elbows in 79 cases (98.75%), and in the knees in 75 cases (93.75%). When combinations of the above three changes occur, the classification of the disease is according to the most severe one of the three. Our findings can increase the accuracy of X-ray diagnosis, making it more consistent with clinical diagnosis, thus improving prevention and treatment of CBEF.

  7. Severe Acute Infection Due to Serratia marcescens Causing Respiratory Distress in An Immunocompetent Adult.

    Science.gov (United States)

    Ruiz-Sada, Pablo; Escalante, Mikel; Lizarralde, Eva

    2016-01-01

    The role of Serratia marcescens changed from a harmless saprophytic microorganism to an important opportunistic human pathogen. It often causes nosocomial device-associated outbreaks and rarely serious invasive community acquired infections. We present a case of a community-acquired Serratia marcescens bacteremia leading to Respiratory Distress Syndrome in a previously healthy 51-year-old man without identifiable risk factors. Full recovery was achieved with solely medical treatment and observation in ICU during three days. To our knowledge it is an extremely uncommon presentation and just few cases have been previously reported in the literature.

  8. Mitral Perivalvular Leak after Blunt Chest Trauma: A Rare Cause of Severe Subacute Mitral Regurgitation.

    Science.gov (United States)

    Marchese, Nicola; Facciorusso, Antonio; Vigna, Carlo

    2015-12-01

    Blunt chest trauma is a very rare cause of valve disorder. Moreover, mitral valve involvement is less frequent than is aortic or tricuspid valve involvement, and the clinical course is usually acute. In the present report, we describe the case of a 49-year-old man with a perivalvular mitral injury that became clinically manifest one year after a violent, nonpenetrating chest injury. This case is atypical in regard to the valve involved (isolated mitral damage), the injury type (perivalvular leak in the absence of subvalvular abnormalities), and the clinical course (interval of one year between trauma and symptoms).

  9. Pigeon fancier’s lung – An under-diagnosed cause of severely debilitating and chronic breathlessness

    Directory of Open Access Journals (Sweden)

    Vishal Chopra

    2017-07-01

    Full Text Available Pigeon fanciers lung or Bird fanciers lung (BFL is one of the common and preventable causes of hypersensitivity pneumonitis. It is an under diagnosed cause of severe incapacitating breathlessness and can be acute, sub-acute or chronic. We report a case of 53 year old female who presented with severe chronic breathlessness due to regular exposure to pigeons for last 35 years. Clinicians should take a detailed history of exposure in patients with unexplained breathlessness as the avoidance of exposure to the antigens can reverse the disease preventing the morbidity and mortality of the patient.

  10. Alkaptonuria: A rare cause of recurrent severe back pain in the emergency department

    Directory of Open Access Journals (Sweden)

    MSeidahmed

    2012-09-01

    Full Text Available We report a 45 year-old male patient who presented to the emergency department of Hamad General Hospital with recurrent severe low back pain. Clinical examination revealed characteristic deposition of blue-brownish pigment in the sclera and ear. X-ray revealed diffuse intervertebral disc calcification. Alkaptonuria was suspected and the diagnosis was confirmed by detection of high levels of homogentisic acid in the urine.

  11. Suppression of decidual cell response induced by tributyltin chloride in pseudopregnant rats: a cause of early embryonic loss

    Energy Technology Data Exchange (ETDEWEB)

    Harazono, A.; Ema, M. [National Inst. of Health Sciences, Osaka Branch (Japan)

    2000-12-01

    In our previous studies, tributyltin chloride (TBTC1) at doses of 16.3 mg/kg and above caused implantation failure (preimplantation embryonic loss) and postimplantation embryonic loss in rats following administration on gestational day (GD) 0 through GD 3 and GD 4 through GD 7, respectively. This study was designed to assess the effects of TBTC1 on uterine function as a cause of early embryonic loss in pseudopregnant rats. TBTC1 was given orally to pseudopregnant rats at doses of 4.1, 8.1, 16.3 and 32.5 mg/kg on pseudopregnant day (PPD) 0 to PPD 3 or 8.1, 16.3, 32.5 and 65.1 mg/kg on PPD 4 to PPD 7. The decidual cell response was induced by bilateral scratch trauma on PPD 4. The uterine weight on PPD 9 served as an index of uterine decidualization. Uterine weight and serum progesterone levels on PPD 9 were significantly decreased after administration of TBTC1 at doses of 16.3 mg/kg and above on PPD 0 to PPD 3 or PPD 4 to PPD 7. Administration of TBTC1 at doses of 8.1 mg/kg and above on PPD 0 to 3 also significantly decreased serum progesterone levels on PPD 4. TBTC1 had no effect on ovarian weight and number of corpora lutea. It can be concluded that TBTC1 suppresses the uterine decidual cell response and decreases progesterone levels, and these effects are responsible for early embryonic loss due to TBTC1 exposure. (orig.)

  12. Receptor tyrosine kinase inhibition causes simultaneous bone loss and excess bone formation within growing bone in rats

    International Nuclear Information System (INIS)

    Nurmio, Mirja; Joki, Henna; Kallio, Jenny; Maeaettae, Jorma A.; Vaeaenaenen, H. Kalervo; Toppari, Jorma; Jahnukainen, Kirsi; Laitala-Leinonen, Tiina

    2011-01-01

    During postnatal skeletal growth, adaptation to mechanical loading leads to cellular activities at the growth plate. It has recently become evident that bone forming and bone resorbing cells are affected by the receptor tyrosine kinase (RTK) inhibitor imatinib mesylate (STI571, Gleevec (registered) ). Imatinib targets PDGF, ABL-related gene, c-Abl, c-Kit and c-Fms receptors, many of which have multiple functions in the bone microenvironment. We therefore studied the effects of imatinib in growing bone. Young rats were exposed to imatinib (150 mg/kg on postnatal days 5-7, or 100 mg/kg on postnatal days 5-13), and the effects of RTK inhibition on bone physiology were studied after 8 and 70 days (3-day treatment), or after 14 days (9-day treatment). X-ray imaging, computer tomography, histomorphometry, RNA analysis and immunohistochemistry were used to evaluate bone modeling and remodeling in vivo. Imatinib treatment eliminated osteoclasts from the metaphyseal osteochondral junction at 8 and 14 days. This led to a resorption arrest at the growth plate, but also increased bone apposition by osteoblasts, thus resulting in local osteopetrosis at the osteochondral junction. The impaired bone remodelation observed on day 8 remained significant until adulthood. Within the same bone, increased osteoclast activity, leading to bone loss, was observed at distal bone trabeculae on days 8 and 14. Peripheral quantitative computer tomography (pQCT) and micro-CT analysis confirmed that, at the osteochondral junction, imatinib shifted the balance from bone resorption towards bone formation, thereby altering bone modeling. At distal trabecular bone, in turn, the balance was turned towards bone resorption, leading to bone loss. - Research highlights: → 3-Day imatinib treatment. → Causes growth plate anomalies in young rats. → Causes biomechanical changes and significant bone loss at distal trabecular bone. → Results in loss of osteoclasts at osteochondral junction.

  13. Severe impacts of brown tides caused by Sargassum spp. on near-shore Caribbean seagrass communities.

    Science.gov (United States)

    van Tussenbroek, Brigitta I; Hernández Arana, Héctor A; Rodríguez-Martínez, Rosa E; Espinoza-Avalos, Julio; Canizales-Flores, Hazel M; González-Godoy, Carlos E; Barba-Santos, M Guadalupe; Vega-Zepeda, Alejandro; Collado-Vides, Ligia

    2017-09-15

    From mid-2014 until the end of 2015, the Mexican Caribbean coast experienced a massive influx of drifting Sargassum spp. that accumulated on the shores, resulting in build-up of decaying beach-cast material and near-shore murky brown waters (Sargassum-brown-tides, Sbt). The effects of Sbt on four near-shore waters included reduction in light, oxygen (hypoxia or anoxia) and pH. The monthly influx of nitrogen, and phosphorus by drifting Sargassum spp. was estimated at 6150 and 61kgkm -1 respectively, resulting in eutrophication. Near-shore seagrass meadows dominated by Thalassia testudinum were replaced by a community dominated by calcareous rhizophytic algae and drifting algae and/or epiphytes, resulting in 61.6-99.5% loss of below-ground biomass. Near-shore corals suffered total or partial mortality. Recovery of affected seagrass meadows may take years or even decades, or changes could be permanent if massive influxes of Sargassum spp. recur. Copyright © 2017. Published by Elsevier Ltd.

  14. A Woman with Black Beads in Her Stomach: Severe Gastric Ulceration Caused by Yttrium-90 Radioembolization

    Directory of Open Access Journals (Sweden)

    Indu S. Voruganti

    2018-01-01

    Full Text Available Radioembolization (RE is a selective internal radiation therapy (SIRT delivering targeted, high-dose, intra-arterial radiation directly to the vascular supply of liver tumors. Complications can occur due to aberrant deposition or migration of radiation microspheres into nontarget locations, including normal hepatic parenchyma, lungs, pancreas, and upper gastrointestinal (UGI tract. We report a case of gastric ulcers due to yttrium-90 (90Y seed migration to the stomach to alert clinicians to this rare cause of gastric injury. A 57-year-old woman with stage IV breast cancer with liver and lung metastases presented to the hospital with 2 months of worsening nausea and vomiting. Two months prior, she had received SIRT with 90Y microspheres without complications. Upper GI endoscopy showed diffuse gastritis and extensive antral ulceration. Biopsies revealed black, spherical foreign bodies, consistent with 90Y microspheres, documenting radiation injury. Radiation-induced UGI ulceration is caused by direct radiation injury from beta-radiation. Delay in diagnosis may be due to the nonspecificity of symptoms and temporal delay of symptom onset from SIRT, which was 2 months in our patient. Also, complaints may be attributed erroneously to adjuvant chemotherapy or widespread metastatic disease. Clinicians must consider radiation-associated toxicity in any SIRT-treated patient developing abdominal symptoms.

  15. The spatial variable glacier mass loss over the southeast Tibet Plateau and the climate cause analyses

    Science.gov (United States)

    Ke, L.; Ding, X.; Song, C.; Sheng, Y.

    2016-12-01

    Temperate glaciers can be highly sensitive to global climate change due to relatively humid and warm local climate. Numerous temperate glaciers are distributed in the southeastern Tibet Plateau (SETP) and their changes are still poorly represented. Based on a latest glacier inventory and ICESat altimetry measurements, we examine the spatial heterogeneity of glacier change in the SETP (including the central and eastern Nyainqêntanglha ranges) and further analyze its relation with climate change by using station-based and gridded meteorological data. Our results show that SETP glaciers experienced drastic surface lowering at about -0.84±0.26 m a-1 on average over 2003-2008. Debris-covered ice thinned at an average rate of -1.13±0.32 m a-1, in comparison with -0.92±0.17 m a-1 over the debris-free ice areas. The thinning rate is the strongest in the southeastern sub-region (up to -1.24 m a-1 ) and moderate ( -0.45 m a-1 ) in the central and northwestern parts, which is in general agreement with the pattern of surface mass changes based on the GRACE gravimetry observation. Long-term climate data at weather stations show that, in comparison with the period of 1992-2002, mean temperature increased by 0.46 °C - 0.59 °C in the recent decade (2003-2013); while the change of summer precipitation exhibited remarkably spatial variability, following a southeast-northwest contrasting pattern (decreasing by over 10% in the southeast, to stable level in the central region, and increment up to 10% in the northwest). This spatially variable precipitation change is consistent with results from CN05 grid data and ERA re-analysis data, and agrees well with the spatial pattern of glacier surface elevation changes. The results suggest that overall negative glacier mass balances in SETP are governed by temperature rising, while the different precipitation change could contribute to inconsistent glacier thinning rates. The spatial pattern of precipitation decrease and mass loss might

  16. Attribution of Causes of Weight Loss and Weight Gain to 3-Year Mortality in Older Adults: Results From the Longitudinal Aging Study Amsterdam

    NARCIS (Netherlands)

    Wijnhoven, H.A.H.; van Zon, S.K.R.; Twisk, J.; Visser, M.

    2014-01-01

    Background: Weight loss is associated with a higher mortality risk in old age, but the underlying cause may impact this association. We examined associations between causes of intentional and unintentional weight loss and weight gain and mortality. Methods: We used data of five triannual examination

  17. Attribution of Causes of Weight Loss and Weight Gain to 3-Year Mortality in Older Adults : Results From the Longitudinal Aging Study Amsterdam

    NARCIS (Netherlands)

    Wijnhoven, Hanneke A. H.; van Zon, Sander K. R.; Twisk, Jos; Visser, Marjolein

    2014-01-01

    Background. Weight loss is associated with a higher mortality risk in old age, but the underlying cause may impact this association. We examined associations between causes of intentional and unintentional weight loss and weight gain and mortality. Methods. We used data of five triannual examination

  18. Acute quadriplegia caused by necrotizing myopathy in a renal transplant recipient with severe pneumonia: acute onset and complete recovery.

    Science.gov (United States)

    Tu, Guo-Wei; Song, Jie-Qiong; Ting, Simon Kang Seng; Ju, Min-Jie; He, Hong-Yu; Dong, Ji-Hong; Luo, Zhe

    2015-02-03

    Critical illness polyneuropathy and myopathy are multifaceted complications that follow severe illnesses involving the sensorimotor axons and proximal skeletal muscles. These syndromes have rarely been reported among renal transplant recipients. In this paper, we report a case of acute quadriplegia caused by necrotizing myopathy in a renal transplant recipient with severe pneumonia. The muscle strength in the patient's extremities improved gradually after four weeks of comprehensive treatment, and his daily life activities were normal a year after being discharged.

  19. Loss of Autophagy in Proopiomelanocortin Neurons Perturbs Axon Growth and Causes Metabolic Dysregulation

    Science.gov (United States)

    Coupé, Bérengère; Ishii, Yuko; Dietrich, Marcelo O; Komatsu, Masaaki; Horvath, Tamas L.; Bouret, Sebastien G.

    2012-01-01

    Summary The hypothalamic melanocortin system, which includes neurons that produce proopiomelanocortin (POMC)-derived peptides, is a major negative regulator of energy balance. POMC neurons begin to acquire their unique properties during neonatal life. The formation of functional neural systems requires massive cytoplasmic remodeling that may involve autophagy, an important intracellular mechanism for the degradation of damaged proteins and organelles. Here we investigated the functional and structural effects of the deletion of an essential autophagy gene, Atg7, in POMC neurons. Lack of Atg7 in POMC neurons caused higher post-weaning body weight, increased adiposity, and glucose intolerance. These metabolic impairments were associated with an age-dependant accumulation of ubiquitin/p62-positive aggregates in the hypothalamus and a disruption in the maturation of POMC-containing axonal projections. Together, these data provide direct genetic evidence that Atg7 in POMC neurons is required for normal metabolic regulation and neural development, and they implicate hypothalamic autophagy deficiency in the pathogenesis of obesity. PMID:22285542

  20. Loss of autophagy in pro-opiomelanocortin neurons perturbs axon growth and causes metabolic dysregulation.

    Science.gov (United States)

    Coupé, Bérengère; Ishii, Yuko; Dietrich, Marcelo O; Komatsu, Masaaki; Horvath, Tamas L; Bouret, Sebastien G

    2012-02-08

    The hypothalamic melanocortin system, which includes neurons that produce pro-opiomelanocortin (POMC)-derived peptides, is a major negative regulator of energy balance. POMC neurons begin to acquire their unique properties during neonatal life. The formation of functional neural systems requires massive cytoplasmic remodeling that may involve autophagy, an important intracellular mechanism for the degradation of damaged proteins and organelles. Here we investigated the functional and structural effects of the deletion of an essential autophagy gene, Atg7, in POMC neurons. Lack of Atg7 in POMC neurons caused higher postweaning body weight, increased adiposity, and glucose intolerance. These metabolic impairments were associated with an age-dependent accumulation of ubiquitin/p62-positive aggregates in the hypothalamus and a disruption in the maturation of POMC-containing axonal projections. Together, these data provide direct genetic evidence that Atg7 in POMC neurons is required for normal metabolic regulation and neural development, and they implicate hypothalamic autophagy deficiency in the pathogenesis of obesity. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

    Science.gov (United States)

    Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne

    2015-11-01

    DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  3. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  4. Mycoplasma ovipneumoniae - A Primary Cause of Severe Pneumonia Epizootics in the Norwegian Muskox (Ovibos moschatus) Population

    DEFF Research Database (Denmark)

    Handeland, Kjell; Tengs, Torstein; Kokotovic, Branko

    2014-01-01

    The Norwegian muskox (Ovibos moschatus) population lives on the high mountain plateau of Dovre and originates from animals introduced from Greenland. In the late summers of 2006 and 2012, severe outbreaks of pneumonia with mortality rates of 25-30% occurred. During the 2012 epidemic high quality...... heavy consolidations primarily in the cranial parts of the lungs and it also identified one case of otitis media. Histologically, lung lesions were characterized as acute to subacute mixed exudative and moderately proliferative bronchoalveolar pneumonia. Immunohistochemical (IHC) examination revealed...

  5. [Chronic and severe anemia caused by Ancylostoma duodenale in Ecuador. Diagnosis by duodenoscopy].

    Science.gov (United States)

    Calvopiña, Manuel; Flores, Jessica; Guaman, Isabel; Lara, Gabriela; Abarca, Jeyson

    2017-10-01

    For 11 years, a 38-year-old male residing in a subtropical region of Ecuador, was repeatedly diagnosed with chronic anemia, and treated with blood transfusions in a hospital of province of Cotopaxi, Ecuador. He was transferred to Quito for severe anemia, having hemoglobin of 4 g/dL. Duodenoscopy was performed and adult nematodes, identified later as Ancylostoma duodenale, were observed. The patient was successfully treated with albendazole for five consecutive days and given blood transfusions. In the control visit at eight months, without anemia and no hookworm ova in the stool examined were found.

  6. Two year reduction in sleep apnea symptoms and associated diabetes incidence after weight loss in severe obesity.

    Science.gov (United States)

    Grunstein, Ronald R; Stenlöf, Kaj; Hedner, Jan A; Peltonen, Markku; Karason, Kristjan; Sjöström, Lars

    2007-06-01

    To evaluate the effect of bariatric surgery on sleep apnea symptoms and obesity-associated morbidity in patients with severe obesity. Prospective study. University hospitals and community centers in Sweden. We investigated the influence of weight loss surgery (n=1729) on sleep apnea symptoms and obesity-related morbidity using a conservatively treated group (n=1748) as a control. Baseline BMI in surgical group (42.2+/-4.4 kg/m(2)) and control group (40.1+/-4.6 kg/m(2)) changed -9.7+/-5 kg/m(2) and 0+/-3 kg/m(2), respectively, at 2-year follow-up. In the surgery group, there was a marked improvement in all obstructive sleep apnea (OSA) symptoms compared with the control group (P sleep apnea symptoms at 2 years. Despite adjustment for weight change and baseline central obesity, subjects reporting loss of OSA symptoms had a lower 2-year incidence of diabetes and hypertriglyceridemia. Improvement in OSA in patients losing weight may provide health benefits in addition to weight loss alone.

  7. Motor unit number estimation in the quantitative assessment of severity and progression of motor unit loss in Hirayama disease.

    Science.gov (United States)

    Zheng, Chaojun; Zhu, Yu; Zhu, Dongqing; Lu, Feizhou; Xia, Xinlei; Jiang, Jianyuan; Ma, Xiaosheng

    2017-06-01

    To investigate motor unit number estimation (MUNE) as a method to quantitatively evaluate severity and progression of motor unit loss in Hirayama disease (HD). Multipoint incremental MUNE was performed bilaterally on both abductor digiti minimi and abductor pollicis brevis muscles in 46 patients with HD and 32 controls, along with handgrip strength examination. MUNE was re-evaluated approximately 1year after initial examination in 17 patients with HD. The MUNE values were significantly lower in all the tested muscles in the HD group (Pdisease duration (Pmotor unit loss in patients with HD within approximately 1year (P4years. A reduction in the functioning motor units was found in patients with HD compared with that in controls, even in the early asymptomatic stages. Moreover, the motor unit loss in HD progresses gradually as the disease advances. These results have provided evidence for the application of MUNE in estimating the reduction of motor unit in HD and confirming the validity of MUNE for tracking the progression of HD in a clinical setting. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  8. Water hammer caused by rapid gas production in a severe accident in a light water reactor

    International Nuclear Information System (INIS)

    Inasaka, Fujio; Adachi, Masaki; Aya, Izuo; Nariai, Hideki; Shiozaki, Kohki

    2005-01-01

    We investigated the water hammer caused by striking of water mass pushed up by a rapidly growing bubble and its scale effects using two cylindrical model containment vessels of 1.0 and 0.428 m diameters. We also closely observed the movement of water mass and the growing bubble in the vessels. In these experiments, rapid bubble growth was simulated by injecting high-pressure air into a water pool. It was clarified that the water mass was pushed up without any air penetration until the water level reached a certain elevation. On the basis of all data, experimental correlations for estimating the height and striking velocity of the water mass with coherency were proposed, and the water hammer pressure for exerting large forces on the structures was quantitatively evaluated. (author)

  9. Growth restriction in gastroschisis: quantification of its severity and exploration of a placental cause

    Directory of Open Access Journals (Sweden)

    Olsen Sam

    2011-10-01

    Full Text Available Abstract Background Gastroschisis patients are commonly small for gestational age (SGA, birth weight [BW] th centile. However, the extent, symmetry and causes of that growth restriction remain controversial. Methods We compared BW, crown-heel length (LT, occipitofrontal circumference (OFC and ponderal index (PI in 179 gastroschisis cases and 895 matched controls by univariate and multiple regression. Fetal ultrasounds (N = 80 were reviewed to determine onset of growth restriction. Placental histology was examined in 31 gastroschisis patients whose placental tissue was available and in 29 controls. Results Gastroschisis cases weighed less than controls (BW = 2400 ± 502 g vs. 2750 ± 532 g, p Conclusions Marked, relatively symmetric intrauterine growth restriction is an intrinsic part of gastroschisis. It begins early in the second trimester, and is associated with placental chorangiosis.

  10. A case of severe rectal hemorrhage possibly caused by radiation recall after administration of gemcitabine

    International Nuclear Information System (INIS)

    Nishimoto, Koshiro; Akise, Yushi; Uchida, Atsushi; Miyazawa, Masaharu; Kutsuki, Shoji; Hashimoto, Subaru

    2016-01-01

    Radiation recall is an acute inflammatory reaction that can be triggered when systemic agents are administered long time after radiotherapy. Because radiotherapy is now indicated for many types of cancer, care should be taken regarding possible toxic events relating to radiotherapy in combination with radio-sensitizing agents. Gemcitabine, one such anti-cancer agent, is widely used, especially for urologic cancers. We report an intriguing case of possible radiation recall in the rectum caused by gemcitabine administration 37 years after radiation therapy. From a review of the literature, it appears that there have been no reported cases of radiation recall in the rectum with such a long interval between radiation therapy and chemotherapy. Here, we describe the case and provide a literature review. (author)

  11. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

    Science.gov (United States)

    Sznajer, Yves; Coldéa, Cristina; Meire, Françoise; Delpierre, Isabelle; Sekhara, Tayeb; Touraine, Renaud L

    2008-04-15

    Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, peripheral neuropathy, and Hirschsprung disease. Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified. We report the natural history of a child who presented with synophrys, vivid blue eye, deafness, bilateral complete semicircular canals agenesis with mental retardation, subtle signs for peripheral neuropathy and lack of Hirschsprung disease. SOX10 gene sequencing identified "de novo" splice site mutation (c.698-2A > C). The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient. Copyright 2008 Wiley-Liss, Inc.

  12. An investigation of two dimensions of impulsivity as predictors of loss-of-control eating severity and frequency.

    Science.gov (United States)

    Espel, Hallie M; Muratore, Alexandra F; Lowe, Michael R

    2017-10-01

    Loss-of-control (LOC) eating episodes represent one form of dysregulated eating common to full- and sub-threshold eating disorders. Extensive evidence suggests that impulsivity, particularly in the context of negative affect and/or depression, may play an important etiological role in the development and maintenance of LOC eating. However, most prior studies have considered LOC eating as a dichotomous rather than dimensional construct, and few studies have considered the interaction of multiple dimensions of impulsivity while also accounting for the role of depressive symptoms. The present study examined the independent and interacting effects of two facets of impulsivity-response inhibition and negative urgency-on LOC eating episode severity and frequency among college women (N = 102). Depressive symptom severity was included as a covariate. Results indicated that greater negative urgency was associated with greater LOC severity; this effect was moderated by response inhibition, such that the effect of urgency was particularly pronounced for individuals with higher response inhibition capacity. Negative urgency was the only significant predictor of LOC frequency. Depression had no significant effect on either LOC severity or frequency (ps ≥ 0.16). Results support the importance of considering multiple facets of impulsivity in predicting LOC eating behavior, and further indicate that factors influencing subjective severity and frequency of LOC may be distinct. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1

    International Nuclear Information System (INIS)

    Liu Honglin; Peng, Xiaohui; Zhao Fang; Zhang Guobin; Tao Ye; Luo Zhaofeng; Li Yang; Teng Maikun; Li Xu; Wei Shiqiang

    2009-01-01

    This study examined recombinant wild-type human phosphoribosylpyrophosphate synthetase 1 (wt-PRS1, EC 2.7.6.1) and the point mutant Asn114Ser PRS1 (N114S-Mutant) in cells of a patient with primary gout. Dynamic light-scattering and sedimentation velocity experiments indicated that the monomeric wt-PRS1 in solution was assembled into hexamers after adding the substrate ATP. However, this ATP-induced aggregation effect was not observed with N114S-Mutant, which has a 50% higher enzymatic activity than that of wt-PRS1. Synchrotron radiation circular dichroism spectroscopy revealed that the point mutation causes an increase of α-helix content and a decrease of turn content. Examination of the crystal structure of wt-PRS1 indicated that 12 hydrogen bonds formed by 6 pairs of N114 and D139 have an important role in stabilizing the hexamer. We suggest that the substitution of S114 for N114 in N114S-Mutant leads to the rupture of 12 hydrogen bonds and breakage of the PO 4 3- allosteric site where PO 4 3- functions as a fixer of the ATP-binding loop. Therefore, we consider that formation of the hexamer as the structural basis of the ADP allosteric inhibition is greatly weakened by the N114S mutation, and that alteration of the ATP-binding loop conformation is the key factor in the increased activity of N114S-Mutant. These two factors could be responsible for the high level of activity of N114S-Mutant in this patient.

  14. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

    Science.gov (United States)

    Wang, Shih-Kai; Choi, Murim; Richardson, Amelia S; Reid, Bryan M; Lin, Brent P; Wang, Susan J; Kim, Jung-Wook; Simmer, James P; Hu, Jan C-C

    2014-04-15

    Integrins are cell-surface adhesion receptors that bind to extracellular matrices (ECM) and mediate cell-ECM interactions. Some integrins are known to play critical roles in dental enamel formation. We recruited two Hispanic families with generalized hypoplastic amelogenesis imperfecta (AI). Analysis of whole-exome sequences identified three integrin beta 6 (ITGB6) mutations responsible for their enamel malformations. The female proband of Family 1 was a compound heterozygote with an ITGB6 transition mutation in Exon 4 (g.4545G > A c.427G > A p.Ala143Thr) and an ITGB6 transversion mutation in Exon 6 (g.27415T > A c.825T > A p.His275Gln). The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). These are the first disease-causing ITGB6 mutations to be reported. Immunohistochemistry of mouse mandibular incisors localized ITGB6 to the distal membrane of differentiating ameloblasts and pre-ameloblasts, and then ITGB6 appeared to be internalized by secretory stage ameloblasts. ITGB6 expression was strongest in the maturation stage and its localization was associated with ameloblast modulation. Our findings demonstrate that early and late amelogenesis depend upon cell-matrix interactions. Our approach (from knockout mouse phenotype to human disease) demonstrates the power of mouse reverse genetics in mutational analysis of human genetic disorders and attests to the need for a careful dental phenotyping in large-scale knockout mouse projects.

  15. Mild and severe muscular dystrophy caused by a single {gamma}-sarcoglycan mutation

    Energy Technology Data Exchange (ETDEWEB)

    McNally, E.M.; Boennemann, C.G.; Lidov, H.G.W. [Brigham and Women`s Hospital, Boston, MA (United States)] [and others

    1996-11-01

    Autosomal recessive muscular dystrophy is genetically heterogeneous. One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein {gamma}-sarcoglycan. The previous mutation analysis of {gamma}-sarcoglycan required the availability of muscle biopsies. To establish a mutation assay for genomic DNA, the intron-exon structure of the {gamma}-sarcoglycan gene was determined, and primers were designed to amplify each of the exons encoding {gamma}-sarcoglycan. We studied a group of Brazilian muscular dystrophy patients for mutations in the {gamma}-sarcoglycan gene. These patients were selected on the basis of autosomal inheritance and/or the presence of normal dystrophin and/or deficiency of {alpha}-sarcoglycan immunostaining. Four of 19 patients surveyed had a single, homozygous mutation in the {gamma}-sarcoglycan gene. The mutation identified in these patients, all of African-Brazilian descent, is identical to that seen in the North African population, suggesting that even patients of remote African descent may carry this mutation. The phenotype in these patients varied considerably. Of four families with an identical mutation, three have a severe Duchenne-like muscular dystrophy. However, one family has much milder symptoms, suggesting that other loci may be present that modify the severity of the clinical course resulting from {gamma}-sarcoglycan gene mutations. 19 refs., 5 figs., 3 tabs.

  16. Spinster homolog 2 (spns2 deficiency causes early onset progressive hearing loss.

    Directory of Open Access Journals (Sweden)

    Jing Chen

    2014-10-01

    Full Text Available Spinster homolog 2 (Spns2 acts as a Sphingosine-1-phosphate (S1P transporter in zebrafish and mice, regulating heart development and lymphocyte trafficking respectively. S1P is a biologically active lysophospholipid with multiple roles in signalling. The mechanism of action of Spns2 is still elusive in mammals. Here, we report that Spns2-deficient mice rapidly lost auditory sensitivity and endocochlear potential (EP from 2 to 3 weeks old. We found progressive degeneration of sensory hair cells in the organ of Corti, but the earliest defect was a decline in the EP, suggesting that dysfunction of the lateral wall was the primary lesion. In the lateral wall of adult mutants, we observed structural changes of marginal cell boundaries and of strial capillaries, and reduced expression of several key proteins involved in the generation of the EP (Kcnj10, Kcnq1, Gjb2 and Gjb6, but these changes were likely to be secondary. Permeability of the boundaries of the stria vascularis and of the strial capillaries appeared normal. We also found focal retinal degeneration and anomalies of retinal capillaries together with anterior eye defects in Spns2 mutant mice. Targeted inactivation of Spns2 in red blood cells, platelets, or lymphatic or vascular endothelial cells did not affect hearing, but targeted ablation of Spns2 in the cochlea using a Sox10-Cre allele produced a similar auditory phenotype to the original mutation, suggesting that local Spns2 expression is critical for hearing in mammals. These findings indicate that Spns2 is required for normal maintenance of the EP and hence for normal auditory function, and support a role for S1P signalling in hearing.

  17. Severe anemia caused by babesiosis in a maned wolf (Chrysocyon brachyurus).

    Science.gov (United States)

    Phair, Kristen A; Carpenter, James W; Smee, Nicole; Myers, Carl B; Pohlman, Lisa M

    2012-03-01

    An 8-yr-old, captive, spayed, female maned wolf (Chrysocyon brachyurus) developed progressive lethargy and weakness over a 24-hr period. Clinical signs included vomiting, recumbency, horizontal nystagmus, possible blindness, pale icteric mucus membranes, and port-wine colored urine. A complete blood cell count revealed severe anemia (packed cell volume [PCV], 6%) and intraerythrocytic piroplasms consistent with a Babesia species. Polymerase chain reaction testing later confirmed babesiosis. The wolf was treated with imidocarb dipropionate, antibiotics, and fluid therapy. A whole-blood transfusion from a sibling maned wolf also was performed. Despite aggressive treatment, the wolf failed to improve and was euthanized. To the authors' knowledge, this is the first documented case of babesiosis in a captive maned wolf in North America. Surveillance of infectious diseases in captive and wild maned wolf populations should be expanded to include screening for Babesia species. Tick control also should be implemented to prevent and decrease transmission of the disease to this endangered species.

  18. Severe necrotizing myocarditis caused by serratia marcescens infection in an axolotl (Ambystoma mexicanum).

    Science.gov (United States)

    Del-Pozo, J; Girling, S; Pizzi, R; Mancinelli, E; Else, R W

    2011-05-01

    This report provides the first account of the pathological changes associated with infection by Serratia marcescens in an adult male axolotl. The infection resulted in septicaemia with severe multifocal necrotizing myocarditis. The latter lesion evolved to cardiac rupture, haemopericardium and death resulting from cardiac tamponade. This animal was exposed to higher than usual temperatures (24-25 °C) 2 weeks before the onset of disease and this may have resulted in immunocompromise and opportunistic bacterial infection. S. marcescens was isolated from the coelomic and pericardial cavity. Both isolates were identical and were resistant to β-lactam antibiotics, but not to aminoglycosides or fluoroquinolones. The production of red prodigiosin pigment by the bacterium suggested an environmental origin. Overall, the clinical and histopathological presentation suggests that S. marcescens should be included in the list of aetiological agents of the 'red-leg'/bacterial dermatosepticaemia syndrome of amphibians. Copyright © 2010 Elsevier Ltd. All rights reserved.

  19. Severe Pleuropulmonary Paragonimiasis Caused by Paragonimus mexicanus Treated as Tuberculosis in Ecuador.

    Science.gov (United States)

    Calvopina, Manuel; Romero-Alvarez, Daniel; Macias, Rubén; Sugiyama, Hiromu

    2017-01-11

    A 30-year-old male, from a subtropical region of Ecuador, was hospitalized with a 5-year history of persistent cough with rusty brown sputum, chest pain, and progressive dyspnea. The patient underwent thoracic surgery 3 years ago for pleural effusion and subsequently received a 9-month regimen treatment of tuberculosis. However, there was no clinical resolution and symptoms became progressively worse. A chest radiograph and computerized tomography scan showed several small nodules in both lungs. Eggs of Paragonimus spp. were observed in sputum smears, but the smears were negative for acid-fast bacilli. Molecular characterization of eggs by the internal transcribed spacer-2 regions identified them as Paragonimus mexicanus The patient was treated with praziquantel and tested negative parasitologically for 12 months. There was clinical resolution of the cough and expectoration, but dyspnea and chest pain persisted. © The American Society of Tropical Medicine and Hygiene.

  20. Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia.

    Science.gov (United States)

    Mathews, Joseph Wolfgang; Winchester, Rhonda; Alsaygh, Nebras; Bartlett, Anne M; Luttrell, Louis

    2016-09-01

    Ossifying fibromas of the maxillofacial bones are an uncommon form of benign neoplasm usually treated by surgical excision. Up to 30% of patients with hyperparathyroidism-jaw tumor syndrome, a rare form of multiple endocrine neoplasia resulting from autosomal dominant inactivating mutation of the Hrpt2 tumor suppressor gene, initially present with ossifying fibromas. Coincident hypercalcemia because of the presence of parathyroid adenoma is common in these patients, of whom 15% may have or may develop parathyroid carcinoma. The authors present a case of severe postsurgical hypercalcemia after removal of a large maxillary ossifying fibroma in a patient with previously unrecognized hyperparathyroidism-jaw tumor AU3 syndrome. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  1. Severe structural and functional visual system damage leads to profound loss of vision-related quality of life in patients with neuromyelitis optica spectrum disorders.

    Science.gov (United States)

    Schmidt, Felix; Zimmermann, Hanna; Mikolajczak, Janine; Oertel, Frederike C; Pache, Florence; Weinhold, Maria; Schinzel, Johann; Bellmann-Strobl, Judith; Ruprecht, Klemens; Paul, Friedemann; Brandt, Alexander U

    2017-01-01

    Neuromyelitis optica spectrum disorders (NMOSD) are characterized by devastating optic neuritis attacks causing more structural damage and visual impairment than in multiple sclerosis (MS). The objective of this study was to compare vision-related quality of life in NMOSD and MS patients and correlate it to structural retinal damage and visual function. Thirty-one NMOSD and 31 matched MS patients were included. Vision-related quality of life was assessed with the 39-item National Eye Institute Visual Function Questionnaire (NEI-VFQ). All patients underwent retinal optical coherence tomography and visual acuity and contrast sensitivity measurements. Vision-related quality of life was reduced in NMOSD compared to MS patients. This difference was driven by a higher incidence of bilateral and more severe optic neuritis in the NMOSD group. Retinal thinning and visual impairment were significantly greater in the NMOSD cohort. Lower vision-related quality of life was associated with more retinal damage and reduced visual function as assessed by visual acuity and contrast sensitivity. NMOSD-related bilateral ON-attacks cause severe structural damage and visual impairment that lead to severe loss of vision-related quality of life. The NEI-VFQ is a helpful tool to monitor vision-related quality of life in NMOSD patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. [Severe hypercalcemia of unusual cause, looking for the culprit: Case report and review of the literature].

    Science.gov (United States)

    Jalbert, M; Mignot, A; Gauchez, A-S; Dobrokhotov, A-C; Fourcade, J

    2018-04-27

    Hypercalcemia is not a rare event and can lead to severe consequences. Its main etiologies are primary hyperparathyroidism and neoplasic conditions. The iatrogenic etiology by vitamin D intoxication is more rarely found. A 76-year-old finish woman comes to the emergency room for chest pain. Her medical history is impossible to specify due to the language barrier and initial confusion. She has severe hypercalcaemia (4.14mmol/L), renal insufficiency, cardiac arrhythmia later complicated by an ischemic cardiac episode. Clinic and biologic examinations initially guided the research towards a hematological and neoplasic pathology. The iatrogenic etiology will be permitted by the contribution of details on its medical history and treatment learnt secondly. She was treated for post-surgical hypoparathyroidism by dihydrotachysterol, a vitamin D derivative. The cessation of substitution, treatment with hydration and biphosphonates allowed the rapid correction of hypercalcemia. Dihydrotachysterol intoxication is a rare etiology of hypercalcemia. Because of the longer half-life of this molecule, the risk of hypercalcemia seems to be greater than with other vitamin D derivatives. This molecule, withdrawn from the French market in 1982, is not detected by the dosage of 25 and 1.25 OH vitamin D. We report an original case of intoxication by dihydrotachysterol. The risk of hypercalcemia encountered with this molecule must be known. The close medical follow-up recommended in case of hypoparathyroidism seems to be particularly necessary in case of supplementation by this molecule. Copyright © 2018 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.

  3. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

    NARCIS (Netherlands)

    van de Pol, L.A.; Wolf, N.I.; van Weissenbruch, M.M.; Stam, C.J.; Weiss, M.M.; Waisfisz, Q.; Kevelam, S.H.; Bugiani, M.; van de Kamp, J.M.; Knaap, M.

    2015-01-01

    A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an

  4. Beliefs about causes, symptoms, and stigma associated with severe mental illness among 'highly acculturated' Chinese-American patients.

    Science.gov (United States)

    Lin, Susan Y

    2013-12-01

    Literature about experiences of mental illness among ethnic minority has tended to focus on first-generation migrants. This study fills that gap by exploring experiences among highly acculturated Chinese-American patients with mental illness. Twenty-nine participants completed semi-structured interviews based on Kleinman's explanatory model, which were audio-taped, transcribed and coded for qualitative analysis. Beliefs about the causes of mental illness included biological factors, head trauma and personal losses. Issues relating to stigma and shame were also discussed. Highly acculturated ethnic minority patients may ascribe to a biomedical model at the same time as ascribing to culture-specific beliefs.

  5. Loss of neuronal integrity: a cause of hypometabolism in patients with traumatic brain injury without MRI abnormality in the chronic stage

    International Nuclear Information System (INIS)

    Shiga, Tohru; Matsuyama, Tetsuaki; Kageyama, Hiroyuki; Kohno, Tomoya; Tamaki, Nagara; Ikoma, Katsunori; Isoyama, Hirotaka; Katoh, Chietsugu; Kuge, Yuji; Terae, Satoshi

    2006-01-01

    Traumatic brain injury (TBI) causes brain dysfunction in many patients. However, some patients have severe brain dysfunction but display no abnormalities on magnetic resonance imaging (MRI). There have been some reports of hypometabolism even in such patients. The purpose of this study was to investigate the relationship between metabolic abnormality and loss of neuronal integrity in TBI patients with some symptoms but without MRI abnormalities. The study population comprised ten patients with TBI and ten normal volunteers. All of the patients were examined at least 1 year after the injury. 15 O-labelled gas PET and [ 11 C]flumazenil (FMZ) positron emission tomography (PET) were carried out. The cerebral metabolic rate of oxygen (CMRO 2 ) and binding potential (BP) images of FMZ were calculated. Axial T2WI, T2*WI and FLAIR images were obtained. Coronal images were added in some cases. All of the patients had normal MRI findings, and all showed areas with abnormally low CMRO 2 . Low uptake on BP images was observed in six patients (60%). No lesions that showed low uptake on BP images were without low CMRO 2 . On the other hand, there were 14 lesions with low CMRO 2 but without BP abnormalities. These results indicate that there are metabolic abnormalities in TBI patients with some symptoms after brain injury but without abnormalities on MRI. Some of the hypometabolic lesions showed low BP, indicating a loss of neuronal integrity. Thus, FMZ PET may have potential to distinguish hypometabolism caused by neuronal loss from that caused by other factors. (orig.)

  6. Morphological adjustments in a meandering reach of the middle Yangtze River caused by severe human activities

    Science.gov (United States)

    Zhou, Meirong; Xia, Junqiang; Lu, Jinyou; Deng, Shanshan; Lin, Fenfen

    2017-05-01

    In the past 50 years, the Shishou reach in the middle Yangtze River underwent significant channel evolution owing to the implementation of an artificial cutoff, the construction of bank revetment works and the operation of the Three Gorges Project (TGP). Based on the measured hydrological data and topographic data, the processes of channel evolution in this reach were investigated mainly from the adjustments in planform and cross-sectional geometries. The variation in planform geometry obtained in this study indicates that (i) the artificial cutoff at Zhongzhouzi caused the river regime to adjust drastically, with the mean rate of thalweg migration at reach scale of 42.0 m/a over the period 1966-1975; (ii) then the effect of this artificial cutoff reduced gradually, with the mean migration rate decreasing to 40 m/a owing to the occurrence of high water levels in 1993-1998; and (iii) the average annual rate of thalweg migration decreased to 29.3 m/a because of the impacts of various bank protection engineering and the TGP operation during the period 2002-2015. However, remarkable thalweg migration processes still occurred in local regions after the TGP operation, which resulted in significant bankline migration in local reaches of Beimenkou, Shijiatai, and Tiaoxiankou. In addition, the adjustments of bankfull channel geometry were investigated at section and reach scales after the TGP operation. Calculated results show that lateral channel migration in this reach was restricted by various river regulation works and that channel evolution was mainly characterized by an increase in bankfull depth and cross-sectional area. Empirical relationships were developed between the reach-scale bankfull dimensions (depth and area), the bankfull widths at specified sections, and the previous 5-year average fluvial erosion intensity during flood seasons, with high correlation degrees between them being obtained.

  7. Duplication and Loss of Function of Genes Encoding RNA Polymerase III Subunit C4 Causes Hybrid Incompatibility in Rice

    Directory of Open Access Journals (Sweden)

    Giao Ngoc Nguyen

    2017-08-01

    Full Text Available Reproductive barriers are commonly observed in both animals and plants, in which they maintain species integrity and contribute to speciation. This report shows that a combination of loss-of-function alleles at two duplicated loci, DUPLICATED GAMETOPHYTIC STERILITY 1 (DGS1 on chromosome 4 and DGS2 on chromosome 7, causes pollen sterility in hybrid progeny derived from an interspecific cross between cultivated rice, Oryza sativa, and an Asian annual wild rice, O. nivara. Male gametes carrying the DGS1 allele from O. nivara (DGS1-nivaras and the DGS2 allele from O. sativa (DGS2-T65s were sterile, but female gametes carrying the same genotype were fertile. We isolated the causal gene, which encodes a protein homologous to DNA-dependent RNA polymerase (RNAP III subunit C4 (RPC4. RPC4 facilitates the transcription of 5S rRNAs and tRNAs. The loss-of-function alleles at DGS1-nivaras and DGS2-T65s were caused by weak or nonexpression of RPC4 and an absence of RPC4, respectively. Phylogenetic analysis demonstrated that gene duplication of RPC4 at DGS1 and DGS2 was a recent event that occurred after divergence of the ancestral population of Oryza from other Poaceae or during diversification of AA-genome species.

  8. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

    Science.gov (United States)

    Lin, Zhimiao; Zhao, Jiahui; Nitoiu, Daniela; Scott, Claire A; Plagnol, Vincent; Smith, Frances J D; Wilson, Neil J; Cole, Christian; Schwartz, Mary E; McLean, W H Irwin; Wang, Huijun; Feng, Cheng; Duo, Lina; Zhou, Eray Yihui; Ren, Yali; Dai, Lanlan; Chen, Yulan; Zhang, Jianguo; Xu, Xun; O'Toole, Edel A; Kelsell, David P; Yang, Yong

    2015-03-05

    Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which we propose to be given the acronym PLACK syndrome. In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37). Immunohistochemistry shows that staining of calpastatin is reduced in skin from affected individuals. Transmission electron microscopy revealed widening of intercellular spaces with chromatin condensation and margination in the upper stratum spinosum in lesional skin, suggesting impaired intercellular adhesion as well as keratinocyte apoptosis. A significant increase of apoptotic keratinocytes was also observed in TUNEL assays. In vitro studies utilizing siRNA-mediated CAST knockdown revealed a role for calpastatin in keratinocyte adhesion. In summary, we describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in CAST. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  9. Clonal Clusters and Virulence Factors of Group C and G Streptococcus Causing Severe Infections, Manitoba, Canada, 2012-2014.

    Science.gov (United States)

    Lother, Sylvain A; Demczuk, Walter; Martin, Irene; Mulvey, Michael; Dufault, Brenden; Lagacé-Wiens, Philippe; Keynan, Yoav

    2017-07-01

    The incidence of group C and G Streptococcus (GCGS) bacteremia, which is associated with severe disease and death, is increasing. We characterized clinical features, outcomes, and genetic determinants of GCGS bacteremia for 89 patients in Winnipeg, Manitoba, Canada, who had GCGS bacteremia during 2012-2014. Of the 89 patients, 51% had bacteremia from skin and soft tissue, 70% had severe disease features, and 20% died. Whole-genome sequencing analysis was performed on isolates derived from 89 blood samples and 33 respiratory sample controls: 5 closely related genetic lineages were identified as being more likely to cause invasive disease than non-clade isolates (83% vs. 57%, p = 0.002). Virulence factors cbp, fbp, speG, sicG, gfbA, and bca clustered clonally into these clades. A clonal distribution of virulence factors may account for severe and fatal cases of bacteremia caused by invasive GCGS.

  10. [Severe inflammation of the muzzle caused by a nose ring in a breeding bull].

    Science.gov (United States)

    Braun, U; Gautschi, A; Reichle, S; Gerspach, C

    2010-09-01

    This report describes the findings in a bull with severe inflammation of the muzzle and nose attributable to a nose ring. The most striking finding was that the bull continually licked the right side of the upper lip. The muzzle and right upper lip were swollen, hard, reddened and partially depigmented. Mucopurulent nasal discharge and salivation were also noted, and palpation of the right upper lip was extremely painful. Based on the findings, purulent infection of the right side of the muzzle, right naris and external nasal passage was diagnosed. After removing the nose ring the affected areas were washed daily for four days with a camomile-containing solution after which a chlorhexidine and dexpanthenol salve was applied. The bull also received ceftiofur and ketoprofen. The general condition and appetite of the bull normalised within a few days, and the inflammatory lesions resolved with the exception of the areas of depigmentation. After ten days of treatment, the bull was considered healthy and discharged from the clinic.

  11. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

    Science.gov (United States)

    Habarou, Florence; Hamel, Yamina; Haack, Tobias B; Feichtinger, René G; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cécile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clément; Eisermann, Monika; Boutron, Audrey; Chrétien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnès; Kölker, Stefan; Rodenburg, Richard J; Korenke, G Christoph; Meitinger, Thomas; Strom, Tim M; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A; de Lonlay, Pascale

    2017-08-03

    Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate dehydrogenase [α-KGDHc] and pyruvate dehydrogenase [PDHc]), or amino acid metabolism (branched-chain oxoacid dehydrogenase, 2-oxoadipate dehydrogenase). Mitochondrial lipoate synthesis involves three enzymatic steps catalyzed sequentially by lipoyl(octanoyl) transferase 2 (LIPT2), lipoic acid synthetase (LIAS), and lipoyltransferase 1 (LIPT1). Mutations in LIAS have been associated with nonketotic hyperglycinemia-like early-onset convulsions and encephalopathy combined with a defect in mitochondrial energy metabolism. LIPT1 deficiency spares GCS deficiency and has been associated with a biochemical signature of combined 2-oxoacid dehydrogenase deficiency leading to early death or Leigh-like encephalopathy. We report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy. Brain MRI showed major cortical atrophy with white matter abnormalities and cysts. Plasma glycine was mildly increased. Affected individuals' fibroblasts showed reduced oxygen consumption rates, PDHc, α-KGDHc activities, leucine catabolic flux, and decreased protein lipoylation. A normalization of lipoylation was observed after expression of wild-type LIPT2, arguing for LIPT2 requirement in intramitochondrial lipoate synthesis. Lipoic acid supplementation did not improve clinical condition nor activities of PDHc, α-KGDHc, or leucine metabolism in fibroblasts and was ineffective in yeast deleted for the orthologous LIP2. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  12. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.

    Science.gov (United States)

    Singh, Amita; Compe, Emanuel; Le May, Nicolas; Egly, Jean-Marc

    2015-02-05

    Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. Conditional Deletion of PDK1 in the Forebrain Causes Neuron Loss and Increased Apoptosis during Cortical Development

    Directory of Open Access Journals (Sweden)

    Congyu Xu

    2017-10-01

    Full Text Available Decreased expression but increased activity of PDK1 has been observed in neurodegenerative disease. To study in vivo function of PDK1 in neuron survival during cortical development, we generate forebrain-specific PDK1 conditional knockout (cKO mice. We demonstrate that PDK1 cKO mice display striking neuron loss and increased apoptosis. We report that PDK1 cKO mice exhibit deficits on several behavioral tasks. Moreover, PDK1 cKO mice show decreased activities for Akt and mTOR. These results highlight an essential role of endogenous PDK1 in the maintenance of neuronal survival during cortical development.

  14. Retinopathy of prematurity as a major cause of severe visual impairment and blindness in children in schools for the blind in Guadalajara city, Mexico.

    Science.gov (United States)

    Zepeda-Romero, L C; Barrera-de-Leon, J C; Camacho-Choza, C; Gonzalez Bernal, C; Camarena-Garcia, E; Diaz-Alatorre, C; Gutierrez-Padilla, J A; Gilbert, C

    2011-11-01

    To determine the causes of blindness in students attending schools for the blind in Guadalajara city, Mexico and to assess the availability of screening for retinopathy of prematurity (ROP) in local neonatal intensive care units. Information on causes of blindness was obtained by interview with parents and teachers, review of records and examination. Causes of visual loss in children with a distance visual acuity of blind) were determined and classified according to the WHO's classification system for children. Of 153 children in the two participating schools, 144 were severely visual impaired or blind. Their ages ranged from 4 months to 15 years and 58% were female. ROP was the most common cause of visual loss (34.7%), followed by optic nerve lesions (17.4%) and glaucoma (14.6%). 25/59 (42.3%) children aged 0-4 years were blind from ROP compared with 6/32 (18.8%) children aged 10-15 years. 78% of children blind from ROP had psychomotor delay and less than half (46%) had not received treatment for ROP. All five privately funded neonatal intensive care units in the city regularly screen for ROP compared with only four of the 12 units in the public sector. ROP is the leading cause of blindness in children in Mexico despite national guidelines being in place. Health policies promoting primary prevention through improved neonatal care need to be implemented. Advocacy is required so that the time ophthalmologists spend screening and treating ROP is included in their job description and hence salaried.

  15. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Ciura, Sorana; Lattante, Serena; Le Ber, Isabelle; Latouche, Morwena; Tostivint, Hervé; Brice, Alexis; Kabashi, Edor

    2013-08-01

    To define the role that repeat expansions of a GGGGCC hexanucleotide sequence of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). A genetic model for ALS was developed to determine whether loss of function of the zebrafish orthologue of C9orf72 (zC9orf72) leads to abnormalities in neuronal development. C9orf72 mRNA levels were quantified in brain and lymphoblasts derived from FTLD and ALS/FTLD patients and in zebrafish. Knockdown of the zC9orf72 was performed using 2 specific antisense morpholino oligonucleotides to block transcription. Quantifications of spontaneous swimming and tactile escape response, as well as measurements of axonal projections from the spinal cord, were performed. Significantly decreased expression of C9orf72 transcripts in brain and lymphoblasts was found in sporadic FTLD and ALS/FTLD patients with normal-size or expanded hexanucleotide repeats. The zC9orf72 is selectively expressed in the developing nervous system at developmental stages. Loss of function of the zC9orf72 transcripts causes both behavioral and cellular deficits related to locomotion without major morphological abnormalities. These deficits were rescued upon overexpression of human C9orf72 mRNA transcripts. Our results indicate C9orf72 haploinsufficiency could be a contributing factor in the spectrum of ALS/FTLD neurodegenerative disorders. Loss of function of the zebrafish orthologue of zC9orf72 expression in zebrafish is associated with axonal degeneration of motor neurons that can be rescued by expressing human C9orf72 mRNA, highlighting the specificity of the induced phenotype. These results reveal a pathogenic consequence of decreased C9orf72 levels, supporting a loss of function mechanism of disease. © 2013 American Neurological Association.

  16. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

    Science.gov (United States)

    Will, Olivia; Carvajal-Carmona, Luis G; Gorman, Patricia; Howarth, Kimberley M; Jones, Angela M; Polanco-Echeverry, Guadalupe M; Chinaleong, Jo-Anne; Günther, Thomas; Silver, Andrew; Clark, Susan K; Tomlinson, Ian

    2007-02-01

    We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 and duodenal adenocarcinoma at age 25. He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis. Germ-line screening for APC and MYH/MUTYH mutations was normal as was immunohistochemistry for MLH1 and MSH2 proteins. Investigation by array-comparative genomic hybridization revealed deletion of a small region on chromosome 7. Using polymerase chain reaction, this region was refined to a 400-kilobase deletion, which included exons 9-15 of the PMS2 gene, and all coding regions of oncomodulin, TRIAD3, and FSCN1. The deletion was confirmed as homozygous, and both parents were carriers. Immunohistochemistry showed absent PMS2 expression in all tumors and normal tissue. Most tumors showed microsatellite instability, more marked at dinucleotide than mononucleotide repeats. The tumors harbored no somatic mutations in APC, BRAF, AXIN2, or beta-catenin, but KRAS2 and TGFBR2 mutations were found. Our patient represents a novel phenotype for homozygous PMS2 mutation and perhaps the most severe colorectal cancer phenotype-in terms of numbers of malignancies at an early age-described to date. PMS2 mutations-and perhaps other homozygous mismatch repair mutations-should be considered in any patient presenting with multiple gastrointestinal tumors, since our patient could not be distinguished clinically from cases with attenuated familial adenomatous polyposis or MUTYH-associated polyposis.

  17. Mycoplasma ovipneumoniae - A Primary Cause of Severe Pneumonia Epizootics in the Norwegian Muskox (Ovibos moschatus) Population

    Science.gov (United States)

    Handeland, Kjell; Tengs, Torstein; Kokotovic, Branko; Vikøren, Turid; Ayling, Roger D.; Bergsjø, Bjarne; Sigurðardóttir, Ólöf G.; Bretten, Tord

    2014-01-01

    The Norwegian muskox (Ovibos moschatus) population lives on the high mountain plateau of Dovre and originates from animals introduced from Greenland. In the late summers of 2006 and 2012, severe outbreaks of pneumonia with mortality rates of 25-30% occurred. During the 2012 epidemic high quality samples from culled sick animals were obtained for microbiological and pathological examinations. High throughput sequencing (pyrosequencing) of pneumonic lung tissue revealed high concentrations of Mycoplasma ovipneumoniae in all six animals examined by this method and Pasteurella multocida subsp. multocida in four animals, whereas no virus sequences could be identified. Mycoplasma ovipneumoniae and P. multocida multocida were also isolated by culture. Using real time PCR on lung swabs, M. ovipneumoniae was detected in all of the 19 pneumonic lungs examined. Gross pathological examination revealed heavy consolidations primarily in the cranial parts of the lungs and it also identified one case of otitis media. Histologically, lung lesions were characterized as acute to subacute mixed exudative and moderately proliferative bronchoalveolar pneumonia. Immunohistochemical (IHC) examination revealed high load of M. ovipneumoniae antigens within lung lesions, with particularly intensive staining in the neutrophils. Similar IHC finding were observed in archived lung tissue blocks from animals examined during the 2006 epidemic. An M. ovipneumoniae specific ELISA was applied on bio-banked muskox sera from stray muskoxen killed in the period 2004–2013 and sick muskoxen culled, as well as sera from wild reindeer (Rangifer tarandus tarandus) on Dovre and muskoxen from Greenland. Serology and mycoplasma culturing was also carried out on sheep that had been on pasture in the muskox area during the outbreak in 2012. Our findings indicated separate introductions of M. ovipneumoniae infection in 2006 and 2012 from infected co-grazing sheep. Salt licks shared by the two species were a

  18. Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

    Science.gov (United States)

    Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

    2011-07-01

    A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

  19. No-Reference Video Quality Assessment Model for Distortion Caused by Packet Loss in the Real-Time Mobile Video Services

    Directory of Open Access Journals (Sweden)

    Jiarun Song

    2014-01-01

    Full Text Available Packet loss will make severe errors due to the corruption of related video data. For most video streams, because the predictive coding structures are employed, the transmission errors in one frame will not only cause decoding failure of itself at the receiver side, but also propagate to its subsequent frames along the motion prediction path, which will bring a significant degradation of end-to-end video quality. To quantify the effects of packet loss on video quality, a no-reference objective quality assessment model is presented in this paper. Considering the fact that the degradation of video quality significantly relies on the video content, the temporal complexity is estimated to reflect the varying characteristic of video content, using the macroblocks with different motion activities in each frame. Then, the quality of the frame affected by the reference frame loss, by error propagation, or by both of them is evaluated, respectively. Utilizing a two-level temporal pooling scheme, the video quality is finally obtained. Extensive experimental results show that the video quality estimated by the proposed method matches well with the subjective quality.

  20. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

    Science.gov (United States)

    Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; de Preux, Anne-Sophie; Xiao, Tong; Bardakjian, Tanya; Schneider, Adele; Choi, Alex; Jorgenson, Eric; Baier, Herwig; El Sada, Mohamad; Schorderet, Daniel F; Slavotinek, Anne M

    2013-08-15

    The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.

  1. Laryngeal giant cell tumour presenting as a tongue base lesion causing severe dysphagia

    Directory of Open Access Journals (Sweden)

    Mohd Razi M. Saud, MBBS

    2018-04-01

    Full Text Available الملخص: أورام الخلايا العملاقة هي آفات حميدة وغير مألوفة تظهر في الحنجرة. قد يصاب المريض بصعوبة في البلع، وبحة في الصوت وتورم في الجهة الأمامية من الرقبة. أورام الخلايا العملاقة هي نادرة للغاية، وهناك حالات قليلة في الأدبيات المنشورة. نعرض لحالة إمرأة مسنة قدمت بصعوبة شديدة في البلع، وورم في قاعدة اللسان. أظهرت نتيجة الورم بأنه ورم الخلايا العملاقة في الحنجرة وتم علاجه بنجاح باستخدام المعالجة الكيميائية. Abstract: Giant cell tumours are benign lesions that are uncommonly found in the larynx. Patients with these tumours may present with dysphagia, hoarseness and anterior neck swelling. Giant cell tumours are extremely rare and only a few cases have been reported. We present a case of an elderly woman who presented with severe dysphagia and a mass at the base of her tongue. The mass was found to be a laryngeal giant cell tumour and was successfully treated with chemotherapy. الكلمات المفتاحية: أورام الخلايا العملاقة, الحنجرة, صعوبة البلع, دينوسوماب, المعالجة الكيميائية, Keywords: Chemotherapy, Denosumab, Dysphagia, Giant cell tumour, Larynx

  2. Body weight loss by very-low-calorie diet program improves small artery reactive hyperemia in severely obese patients.

    Science.gov (United States)

    Merino, J; Megias-Rangil, I; Ferré, R; Plana, N; Girona, J; Rabasa, A; Aragonés, G; Cabré, A; Bonada, A; Heras, M; Masana, L

    2013-01-01

    Endothelial dysfunction is a major underlying mechanism for the elevated cardiovascular risk associated with increased body weight. We aimed to assess the impact of weight loss induced by an intensive very-low-calorie diet (VLCD) on arterial wall function in severely obese patients (SOP). Thirty-four SOP were admitted to the metabolic ward of the hospital for a 3-week period. A VLCD characterized by a liquid diet providing 800 kcal/day was administered. The small artery reactivity to postischemic hyperemia index (saRHI), a surrogate marker of endothelial function, was assessed before and 1 week after hospital discharge. Anthropometry and biochemical parameters were also measured. Obese and non-obese age- and gender-matched groups were recruited for baseline comparisons. SOP had significantly lower saRHI compared with obese and non-obese individuals. SaRHI significantly increased after the intervention in SOP (1.595 ± 0.236 vs. 1.737 ± 0.417, p = 0.015). A significant improvement in glucose (p = 0.026), systolic blood pressure (p = 0.049), LDLc (p reactivity, and it was associated with the amelioration of metabolic and inflammation markers. Endothelial dysfunction may be softened by body weight loss interventions and useful in the management of cardiovascular risk factors in SOP.

  3. What causes bone loss?

    Science.gov (United States)

    ... Paula FJA, Black DM, Rosen CJ. Osteoporosis and bone biology. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology . 13th ed. Philadelphia, PA: ... HM. Bone development and remodeling. In: Jameson JL, De Groot ...

  4. MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.

    Science.gov (United States)

    Saito, Mari; Yamagata, Takanori; Matsumoto, Ayumi; Shiba, Yusuke; Nagashima, Masako; Taniguchi, Shuhei; Jimbo, Eriko; Momoi, Mariko Y

    2014-01-01

    Deletion of the monoamine oxidase (MAO)-A and MAO-B was detected in two male siblings and in their mother. The approximately 800-kb deletion, extending from about 43.0MB to 43.8MB, was detected by array comparative genomic hybridization analysis. The MAOA and MAOB genes were included in the deletion, but the adjacent Norrie disease gene, NDP, was not deleted. The boys had short stature, hypotonia, severe developmental delays, episodes of sudden loss of muscle tone, exiting behavior, lip-smacking and autistic features. The serotonin levels in their cerebrospinal fluid were extremely elevated. Another set of siblings with this deletion was reported previously. We propose recognition of MAOA/B deletion syndrome as a distinct disorder. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  5. Identification of the cause of severe skin infection by Fournier transform infrared spectroscopy: a case of Fournier's gangrene caused by fish bone.

    Science.gov (United States)

    Shimizu, Takae; Harada, Kazutoshi; Akazawa, Satoshi; Yamaguchi, Miyuki; Inozume, Takashi; Kawamura, Tatsuyoshi; Shibagaki, Naotaka; Momosawa, Akira; Shimada, Shinji

    2014-06-01

    Fournier's gangrene (FG) is an infrequent but highly lethal infection. Here we report a 74-year-old man who presented with genital swelling and severe malaise. Based on the physical and imaging examination results, the diagnosis of FG was confirmed. Intraoperative findings showed dirty necrosis of soft tissue, and a splinter-shaped foreign body was found in the perirectal region. The foreign body was thought to be the cause of the condition, and it was analyzed using Fourier transform infrared spectroscopy. We found that the foreign body was a mixture of calcium phosphate and protein, suggesting that the splinter was a bone. Moreover, during the medical interview, the patient mentioned about intake of fish around the time of onset of symptoms. Therefore, to confirm the results of the analysis, DNA was extracted from the foreign body, and genomic PCR with subsequent sequence analysis was performed. The DNA sequence was identical to that of Oncorhynchus kisutch, a salmon that is a very popular food in Japan. On the basis of these findings, we concluded that FG in this case was caused by the penetration into the rectum of an accidentally ingested fish bone. Although some cases of intra-abdominal abscess due to accidental ingestion of fish bone have been reported, FG caused by fish bone is extremely rare. © 2014 Japanese Dermatological Association.

  6. Increasing severity of damage caused by floods in the Spanish Mediterranean coast (1960-2014), climate change or vulnerability?

    Science.gov (United States)

    Perez, Alfredo; Gil, Salvador; Lopez, Francisco; Barriendos, Mariano

    2016-04-01

    In recent decades, there has been an increase in physical and economic losses (WMO, CRED and UCL, 2014) that raises serious concerns in society. Climate change projections may explain the rise in flood losses; however, these shouldn't be considered yet (Bouwer, 2011). According to IPCC (2014), there is low confidence in anthropogenic climate change affecting the frequency and magnitude of fluvial floods on a global scale. In other words, this increase in flood events is not completely related to the higher frequency of heavy rainfall. To illustrate the aforementioned, a spatial example can be seen in the study area. In the Spanish Mediterranean coast, we see an increase in economic losses within the last 50 years due to flood events (Gil et al., 2014). It seems that the socio-economic growth and the rise of housing construction (Gaja, 2008) have led to an increase in vulnerability and exposure which are mainly responsible for those losses and the increase in severity of flood events (Pérez et al., 2015). Furthermore, this situation will probably become more precarious if some climate forecasts are met [IPCC, 2014; AEMET, 2015], and if the economic model fails to adopt efficient adaptive measures. Therefore, it is interesting to focus attention on social factors either within the present or future scenario in order to minimise the potential consequences and improve the adaptation. The main objective of this work focuses on the study of the evolution of the severity of the floods in the Spanish Mediterranean coast for the period (1960-2015). To do that, a statistical analysis of the data base [Gil et al., 2014; extended to the entire Spanish Mediterranean coast (MEDIFLOOD)] and a multiscale mapping (local, provincial and regional level) of the frequency of these events will take place in order to make comparisons and show spatiotemporal patterns according to the severity events evolution. Preliminary results show some interesting statistically significant

  7. Severe rickets in a young girl caused by celiac disease: the tragedy of delayed diagnosis: a case report.

    Science.gov (United States)

    Al-Sharafi, Butheinah A; Al-Imad, Shafiq A; Shamshair, Amani M; Al-Faqeeh, Derhim H

    2014-10-08

    Celiac disease is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as metabolic bone disease and failure to thrive. This may lead to a delay in the diagnosis. We present a 13 year old female from the middle east with an 8 year history of severe rickets causing multiple bone deformities leaving the child crippled with bowing of both of her arms and legs. The patient was also found to have growth failure, anemia and on further workup she was found to have celiac disease. We are presenting this case because it shows a severe case of rickets after malabsorption for many years. Celiac disease should be kept in mind as a cause of rickets in patients not responding to usual forms of treatment or when associated with other manifestations of malabsorption.

  8. Research on water hammer forces caused by rapid growth of bubbles at severe accidents of water cooled reactors

    International Nuclear Information System (INIS)

    Inasaka, Fujio; Adachi, Masaki; Aya, Izuo

    2004-01-01

    At severe accidents of Water Cooled Reactors a great deal of gas is expected to be produced in a short time within the water of lower part of nuclear pressure vessel and containment vessel caused by hydrogen production with a metal water reaction and steam explosions with direct contact of melting core and water. Water hammer forces caused by rapid growth of bubbles shall work on the wall of containment vessel and affect its integrity. Coherency of water block movement is not clear, whether simultaneous or in the same direction. Water block behavior and water hammer forces caused by rapid growth of bubbles have been tested using a modified scale model and analyzed to obtain experimental correlated equation to estimate water block's rising distance and velocity from water hammer data. Numerical analysis using RELAP5-3D (Reactor Excursion and Leak Analysis Program) has been conducted to evaluate water hammer forces and makes clear its modifications needed. (T. Tanaka)

  9. Posttraumatic Stress Disorder and Depression Symptom Severities Are Differentially Associated With Hippocampal Subfield Volume Loss in Combat Veterans.

    Science.gov (United States)

    Averill, Christopher L; Satodiya, Ritvij M; Scott, J Cobb; Wrocklage, Kristen M; Schweinsburg, Brian; Averill, Lynnette A; Akiki, Teddy J; Amoroso, Timothy; Southwick, Steven M; Krystal, John H; Abdallah, Chadi G

    2017-01-01

    Two decades of human neuroimaging research have associated volume reductions in the hippocampus with posttraumatic stress disorder. However, little is known about the distribution of volume loss across hippocampal subfields. Recent advances in neuroimaging methods have made it possible to accurately delineate 10 gray matter hippocampal subfields. Here, we apply a volumetric analysis of hippocampal subfields to data from a group of combat-exposed Veterans. Veterans (total, n = 68, posttraumatic stress disorder, n = 36; combat control, n = 32) completed high-resolution structural magnetic resonance imaging. Based on previously validated methods, hippocampal subfield volume measurements were conducted using FreeSurfer 6.0. The Clinician-Administered PTSD Scale assessed posttraumatic stress disorder symptom severity; Beck Depression Inventory assessed depressive symptom severity. Controlling for age and intracranial volume, partial correlation analysis examined the relationship between hippocampal subfields and symptom severity. Correction for multiple comparisons was performed using false discovery rate. Gender, intelligence, combat severity, comorbid anxiety, alcohol/substance use disorder, and medication status were investigated as potential confounds. In the whole sample, total hippocampal volume negatively correlated with Clinician-Administered PTSD Scale and Beck Depression Inventory scores. Of the 10 hippocampal subfields, Clinician-Administered PTSD Scale symptom severity negatively correlated with the hippocampus-amygdala transition area (HATA). Beck Depression Inventory scores negatively correlated with dentate gyrus, cornu ammonis 4 (CA4), HATA, CA2/3, molecular layer, and CA1. Follow-up analysis limited to the posttraumatic stress disorder group showed a negative correlation between Clinician-Administered PTSD Scale symptom severity and each of HATA, CA2/3, molecular layer, and CA4. This study provides the first evidence relating posttraumatic stress

  10. [Progressive noise induced hearing loss caused by hearing AIDS, a dilemma for the worker and the expert alike].

    Science.gov (United States)

    Feldmann, H

    2001-12-01

    Investigating cases of noise induced hearing loss the expert is often confronted with the situation that the hearing loss is progressive although the noise exposure has been reduced to almost non-damaging levels. Other causes such as age, hereditary deafness, head injuries, blasts, internal diseases can be excluded. Hearing aids as sources of damaging noise? By consulting the protocol of the hearing-aid acoustician and by own examinations the expert should obtain the following data: loudness level that yields best discrimination score of speech; level of discomfort for tones and speech, discrimination score that is achieved under free field condition with a speech level of 65 dB, using the hearing aids. Furthermore he should explore the circumstances under which the hearing aids are used: how many hours per day, at what occasions etc.? It is likely that in using the hearing aids they are adjusted to emit an intensity level identical to the one yielding the optimal discrimination score. If this e. g. is 100 dB and the hearing aids are used for 2 hours per day this would be equivalent to an exposure to industrial noise of 94 dB (A) for 8 hours daily without ear protection. Among all individuals working under industrial noise exposure today only about 1 - 2 % having unusually vulnerable inner ears will suffer a noise induced hearing loss. On the other hand workers in industrial noise are accustomed to loud noise levels, usually have a raised threshold of discomfort and therefore are likely to adjust their hearing aids to such high intensities. The expert will have to decide whether in an individual case the industrial noise exposure or the use of the hearing aids is the dominant risk for further damage. The consequences in respect to the regulations of the workers' health insurance are discussed.

  11. DNA damage and apoptosis of endometrial cells cause loss of the early embryo in mice exposed to carbon disulfide

    International Nuclear Information System (INIS)

    Zhang, Bingzhen; Shen, Chunzi; Yang, Liu; Li, Chunhui; Yi, Anji; Wang, Zhiping

    2013-01-01

    Carbon disulfide (CS 2 ) may lead to spontaneous abortion and very early pregnancy loss in women exposed in the workplace, but the mechanism remains unclear. We designed an animal model in which gestating Kunming strain mice were exposed to CS 2 via i.p. on gestational day 4 (GD4). We found that the number of implanted blastocysts on GD8 was significantly reduced by each dose of 0.1 LD 50 (157.85 mg/kg), 0.2 LD 50 (315.7 mg/kg) and 0.4 LD 50 (631.4 mg/kg). In addition, both the level of DNA damage and apoptosis rates of endometrial cells on GD4.5 were increased, showed definite dose–response relationships, and inversely related to the number of implanted blastocysts. The expressions of mRNA and protein for the Bax and caspase-3 genes in the uterine tissues on GD4.5 were up-regulated, while the expressions of mRNA and protein for the Bcl-2 gene were dose-dependently down-regulated. Our results indicated that DNA damage and apoptosis of endometrial cells were important reasons for the loss of implanted blastocysts induced by CS 2 . - Highlights: • We built an animal model of CS2 exposure during blastocyst implantation. • Endometrial cells were used in the comet assay to detect DNA damage. • CS2 exposure caused DNA damage and endometrial cell apoptosis. • DNA damage and endometrial cell apoptosis were responsible for embryo loss

  12. DNA damage and apoptosis of endometrial cells cause loss of the early embryo in mice exposed to carbon disulfide

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Bingzhen [Department of Epidemiology and Health Statistics, School of Public Health, Shandong University, Jinan (China); Shen, Chunzi [Centers for Disease Control and Prevention, Zibo (China); Yang, Liu; Li, Chunhui; Yi, Anji [Department of Epidemiology and Health Statistics, School of Public Health, Shandong University, Jinan (China); Wang, Zhiping, E-mail: zhipingw@sdu.edu.cn [Department of Epidemiology and Health Statistics, School of Public Health, Shandong University, Jinan (China)

    2013-12-01

    Carbon disulfide (CS{sub 2}) may lead to spontaneous abortion and very early pregnancy loss in women exposed in the workplace, but the mechanism remains unclear. We designed an animal model in which gestating Kunming strain mice were exposed to CS{sub 2} via i.p. on gestational day 4 (GD4). We found that the number of implanted blastocysts on GD8 was significantly reduced by each dose of 0.1 LD{sub 50} (157.85 mg/kg), 0.2 LD{sub 50} (315.7 mg/kg) and 0.4 LD{sub 50} (631.4 mg/kg). In addition, both the level of DNA damage and apoptosis rates of endometrial cells on GD4.5 were increased, showed definite dose–response relationships, and inversely related to the number of implanted blastocysts. The expressions of mRNA and protein for the Bax and caspase-3 genes in the uterine tissues on GD4.5 were up-regulated, while the expressions of mRNA and protein for the Bcl-2 gene were dose-dependently down-regulated. Our results indicated that DNA damage and apoptosis of endometrial cells were important reasons for the loss of implanted blastocysts induced by CS{sub 2}. - Highlights: • We built an animal model of CS2 exposure during blastocyst implantation. • Endometrial cells were used in the comet assay to detect DNA damage. • CS2 exposure caused DNA damage and endometrial cell apoptosis. • DNA damage and endometrial cell apoptosis were responsible for embryo loss.

  13. Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.

    Directory of Open Access Journals (Sweden)

    Jun Yang

    2010-05-01

    Full Text Available Mutations in whirlin cause either Usher syndrome type II (USH2, a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin long isoform, distinct from a short isoform by virtue of having two N-terminal PDZ domains, is expressed in the retina. Both long and short isoforms are expressed in the inner ear. The N-terminal PDZ domains of the long whirlin isoform mediates the formation of a multi-protein complex that includes usherin and VLGR1, both of which are also implicated in USH2. We localized this USH2 protein complex to the periciliary membrane complex (PMC in mouse photoreceptors that appears analogous to the frog periciliary ridge complex. The latter is proposed to play a role in photoreceptor protein trafficking through the connecting cilium. Mice carrying a targeted disruption near the N-terminus of whirlin manifest retinal and inner ear defects, reproducing the clinical features of human USH2 disease. This is in contrast to mice with mutations affecting the C-terminal portion of whirlin in which the phenotype is restricted to the inner ear. In mice lacking any one of the USH2 proteins, the normal localization of all USH2 proteins is disrupted, and there is evidence of protein destabilization. Taken together, our findings provide new insights into the pathogenic mechanism of Usher syndrome. First, the three USH2 proteins exist as an obligatory functional complex in vivo, and loss of one USH2 protein is functionally close to loss of all three. Second, defects in the three USH2 proteins share a common pathogenic process, i.e., disruption of the PMC. Third, whirlin mutations that ablate the N-terminal PDZ domains lead to Usher syndrome, but non-syndromic hearing loss will result if they are spared.

  14. Transitioning hearing aid users with severe and profound loss to a new gain/frequency response: benefit, perception, and acceptance.

    Science.gov (United States)

    Convery, Elizabeth; Keidser, Gitte

    2011-03-01

    Adults with severe and profound hearing loss tend to be long-term, full-time users of amplification who are highly reliant on their hearing aids. As a result of these characteristics, they are often reluctant to update their hearing aids when new features or signal-processing algorithms become available. Due to the electroacoustic constraints of older devices, many severely and profoundly hearing-impaired adults continue to wear hearing aids that provide more low- and mid-frequency gain and less high-frequency gain than would be prescribed by the National Acoustic Laboratories' revised formula with profound correction factor (NAL-RP). To investigate the effect of a gradual change in gain/frequency response on experienced hearing-aid wearers with moderately severe to profound hearing loss. Double-blind, randomized controlled trial. Twenty-three experienced adult hearing-aid users with severe and profound hearing loss participated in the study. Participants were selected for inclusion in the study if the gain/frequency response of their own hearing aids differed significantly from their NAL-RP prescription. Participants were assigned either to a control or to an experimental group balanced for aided ear three-frequency pure-tone average (PTA) and age. Participants were fitted with Siemens Artis 2 SP behind-the-ear (BTE) hearing aids that were matched to the gain/frequency response of their own hearing aids for a 65 dB SPL input level. The experimental group progressed incrementally to their NAL-RP targets over the course of 15 wk, while the control group maintained their initial settings throughout the study. Aided speech discrimination testing, loudness scaling, and structured questionnaires were completed at 3, 6, 9, 12, and 15 wk postfitting. A paired comparison between the old and new gain/frequency responses was completed at 1 and 15 wk postfitting. Statistical analysis was conducted to examine differences between the experimental and control groups and changes

  15. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

    Science.gov (United States)

    Freire, Bruna L; Homma, Thais K; Funari, Mariana F A; Lerario, Antônio M; Leal, Aline M; Velloso, Elvira D R P; Malaquias, Alexsandra C; Jorge, Alexander A L

    2018-03-01

    Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features. Her parents were third degree cousins. Routine screening tests for short stature was normal. We conducted whole exome sequencing (WES) of the proband and used an analysis pipeline to identify rare nonsynonymous genetic variants that cause short stature. We identified a homozygous loss-of-function BRCA1 mutation (c.2709T > A; p. Cys903*), which promotes the loss of critical domains of the protein. Cytogenetic study with DEB showed an increased chromosomal breakage. We screened heterozygous parents of the index case for cancer and we detected, in her mother, a metastatic adenocarcinoma in an axillar lymph node with probable primary site in the breast. It is possible to consolidate the FA-like phenotype associated with biallelic loss-of-function BRCA1, characterized by microcephaly, short stature, developmental delay, dysmorphic face features and cancer predisposition. In our case, the WES allowed to establish the genetic cause of short stature in the context of a chromosome instability syndrome. An identification of BRCA1 mutations in our patient allowed precise genetic counseling and also triggered cancer screening for the patient and her family members. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  16. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

    Science.gov (United States)

    Lesko, Nicole; Naess, Karin; Wibom, Rolf; Solaroli, Nicola; Nennesmo, Inger; von Döbeln, Ulrika; Karlsson, Anna; Larsson, Nils-Göran

    2010-03-01

    Deficiency of thymidine kinase-2 (TK2) has been described in children with early onset fatal skeletal myopathy. TK2 is a mitochondrial deoxyribonucleoside kinase required for the phosphorylation of deoxycytidine and deoxythymidine and hence is vital for the maintenance of a balanced mitochondrial dNTP pool in post-mitotic tissues. We describe a patient with two novel TK2 mutations, which caused disease onset shortly after birth and death at the age of three months. One mutation (219insCG) generated an early stop codon, thus preventing the synthesis of a functional protein. The second mutation (R130W) resulted in an amino acid substitution, which caused a severe reduction (TK2 enzyme activity. These two novel TK2 mutations cause an extremely severe phenotype with overwhelming central nervous system symptoms not commonly seen in patients with TK2-deficiency. We conclude that the severe clinical presentation in this patient was due to a virtual lack of mitochondrial TK2 activity. Copyright 2009 Elsevier B.V. All rights reserved.

  17. The Loss of Vacuolar Protein Sorting 11 (vps11) Causes Retinal Pathogenesis in a Vertebrate Model of Syndromic Albinism

    Science.gov (United States)

    Thomas, Jennifer L.; Vihtelic, Thomas S.; denDekker, Aaron D.; Willer, Gregory; Luo, Xixia; Murphy, Taylor R.; Gregg, Ronald G.; Hyde, David R.

    2011-01-01

    Purpose. To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Methods. Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy. Results. Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during zebrafish development, with stronger expression in the developing retina and retinal pigmented epithelium (RPE). Zebrafish platinum mutants exhibited reduced pigmentation in the body and RPE; however, melanophore development, migration, and dispersion occurred normally. RPE, photoreceptors, and inner retinal neurons formed normally in zebrafish platinum mutants. However, a gradual loss of RPE, an absence of mature melanosomes, and the subsequent degradation of RPE/photoreceptor interdigitation was observed. Conclusions. These data show that Vps11 is not necessary for normal retinal development or initiation of melanin biosynthesis, but is essential for melanosome maturation and healthy maintenance of the RPE and photoreceptors. PMID:21330665

  18. Severe hemolytic disease of fetus and newborn caused by red blood cell antibodies undetected at first-trimester screening (CME).

    Science.gov (United States)

    Dajak, Slavica; Stefanović, Vedran; Capkun, Vesna

    2011-07-01

    The objective was to determine clinical consequences of anti-D and non-D antibodies undetected at first-trimester screening for infant or fetus. This retrospective cohort study included all pregnant women with red blood cell (RBC) antibodies who were tested between 1993 and 2008. Data were obtained from the forms for tracking immunization at the transfusion department. Each form was analyzed for three data sets: the order of screening at which the antibodies were detected (initial or repeated screening), the order of pregnancy (first pregnancy or higher), and whether the antibodies caused severe hemolytic disease of fetus and newborn (HDFN). In D- women, anti-D was detected in 1.3% of cases. The anti-D was undetected in 72 (37%) cases on the first-trimester screening, of which eight cases were complicated by severe HDFN. In this group, three patients were primigravidae. An overall non-D incidence of 0.2% was observed. In 16 cases, non-D were undetected on the first-trimester screening (10 anti-c, two anti-E, two anti-C, one anti-S, and one case of anti-Rh17). Non-D antibodies undetected on initial screening caused 11 cases of severe HDFN (27% of all severe non-D HDFN). Ten of them were in multiparous women. Seven of 11 cases with severe HDFN that were missed were caused by anti-c. The third-trimester screening may detect RBC antibodies that were not present or detected on the first-trimester screening. Such screening may be especially relevant in D+ multiparous women due to the risk of HDFN. © 2010 American Association of Blood Banks.

  19. Exercise training with weight loss and either a high or low glycemic diet reduces metabolic syndrome severity in older adults

    Science.gov (United States)

    Malin, Steven K.; Niemi, Nicole; Solomon, Thomas P.J.; Haus, Jacob M.; Kelly, Karen R.; Filion, Julianne; Rocco, Michael; Kashyap, Sangeeta R.; Barkoukis, Hope; Kirwan, John P.

    2012-01-01

    Background The efficacy of combining carbohydrate quality with exercise on metabolic syndrome risk is unclear. Thus, we determined the effects of exercise training with a low or high glycemic diet on metabolic syndrome severity (Z-score). Methods Twenty-one adults (66.2 ± 1.1 yr; BMI = 35.3 ± 0.9 kg/m2) with metabolic syndrome were randomized to 12 weeks of exercise (60 minutes/d for 5 d/week at ~85% HRmax) and provided a low-glycemic (n=11; LoGIx) or high glycemic (n=10; HiGIx) diet. Z-scores were determined from: blood pressure, triglycerides (TG), high-density lipoproteins (HDL), fasting plasma glucose (FPG), and waist circumference (WC) before and after the intervention. Body composition, aerobic fitness, insulin resistance, and non-esterfied fatty acid (NEFA) suppression were also assessed. Results LoGIx and HiGIx decreased body mass and insulin resistance and increased aerobic fitness comparably (p exercise with weight loss reduces metabolic syndrome severity whether individuals were randomized to a high or low glycemic index diet. PMID:23036993

  20. Psychological Outcomes and Predictors of Initial Weight Loss Outcomes among Severely Obese Adolescents Receiving Laparoscopic Adjustable Gastric Banding

    Science.gov (United States)

    Sysko, Robyn; Devlin, Michael J.; Hildebrandt, Tom B.; Brewer, Stephanie K.; Zitsman, Jeffrey L.; Walsh, B. Timothy

    2013-01-01

    Objective Elevated rates of psychopathology are noted among severely obese youth presenting for weight loss surgery. The role of mental health providers in this population is not well defined, and the selection of candidates is often the result of clinical judgment alone. The purpose of this study was to comprehensively evaluate psychiatric symptoms among a large sample of adolescents receiving laparoscopic adjustable gastric banding (LAGB) by: (1) examining changes in depressive symptoms and quality of life in the year following surgery, (2) evaluating the interaction between patterns of change in depression, quality of life, and weight post-surgery, and (3) identifying pre-surgical psychological predictors of initial weight change. Method Participants were 101 severely obese adolescents aged 14 to 18. Measures of height, weight, depressive symptoms, and quality of life were obtained in the first year following surgery. Changes in the Beck Depression Inventory (BDI), Pediatric Quality of Life Inventory (PedsQL), and body mass index were analyzed using latent growth curve modeling. Results Significant changes in total BDI [βslope=−0.885 SE=0.279, psurgery (pAdolescents experienced notable improvements in initial depressive symptoms and quality of life after LAGB, and measures of pre-operative binge eating and family conflict affected post-surgery body mass index among youth. PMID:23140654

  1. Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

    Science.gov (United States)

    de Pablos, Augusto Luque; García-Nieto, Victor; López-Menchero, Jesús C; Ramos-Trujillo, Elena; González-Acosta, Hilaria; Claverie-Martín, Félix

    2014-05-01

    Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are missense or nonsense mutations. In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure.

  2. Severe Hypothyroidism due to the Loss of Therapeutic Efficacy of l-Thyroxine in a Patient with Esophageal Complication Associated with Systemic Sclerosis.

    Science.gov (United States)

    Lobasso, Antonio; Nappi, Liliana; Barbieri, Letizia; Peirce, Carmela; Ippolito, Serena; Arpaia, Debora; Rossi, Francesca Wanda; de Paulis, Amato; Biondi, Bernadette

    2017-01-01

    Thyroid function abnormalities and thyroid autoantibodies have been frequently described in patients with systemic autoimmune diseases as systemic sclerosis (SSc). Serum TSH levels are higher in SSc patients with more severe skin diseases and a worse modified Rodnan skin score. Asymptomatic esophageal involvement due to SSc has never been described as a cause of severe hypothyroidism due to l-thyroxine (l-T4) malabsorption in patients with Hashimoto's thyroiditis (HT) and SSc. Here, we report a case of a 56-year-old female affected by both SSc and HT who developed severe hypothyroidism due to the loss of therapeutic efficacy of l-T4. Therapeutic failure resulted from the altered l-T4 absorption because of SSc esophageal complications. Clinical findings improved after the administration of oral liquid l-T4. Thyroid function completely normalized with a full clinical recovery, the disappearance of the pericardial effusion and the improvement of the pulmonary pressure. A recognition of a poor absorption is crucial in patients with hypothyroidism and SSc to reduce the risk of the subsequent adverse events. This case suggests the importance of clinical and laboratory surveillance in patients with SSc and HT because the systemic complications of these dysfunctions may worsen the prognosis of hypothyroid SSc/HT patients.

  3. Severe Hypothyroidism due to the Loss of Therapeutic Efficacy of l-Thyroxine in a Patient with Esophageal Complication Associated with Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Antonio Lobasso

    2017-09-01

    Full Text Available BackgroundThyroid function abnormalities and thyroid autoantibodies have been frequently described in patients with systemic autoimmune diseases as systemic sclerosis (SSc. Serum TSH levels are higher in SSc patients with more severe skin diseases and a worse modified Rodnan skin score. Asymptomatic esophageal involvement due to SSc has never been described as a cause of severe hypothyroidism due to l-thyroxine (l-T4 malabsorption in patients with Hashimoto’s thyroiditis (HT and SSc.Case reportHere, we report a case of a 56-year-old female affected by both SSc and HT who developed severe hypothyroidism due to the loss of therapeutic efficacy of l-T4. Therapeutic failure resulted from the altered l-T4 absorption because of SSc esophageal complications. Clinical findings improved after the administration of oral liquid l-T4. Thyroid function completely normalized with a full clinical recovery, the disappearance of the pericardial effusion and the improvement of the pulmonary pressure.ConclusionA recognition of a poor absorption is crucial in patients with hypothyroidism and SSc to reduce the risk of the subsequent adverse events. This case suggests the importance of clinical and laboratory surveillance in patients with SSc and HT because the systemic complications of these dysfunctions may worsen the prognosis of hypothyroid SSc/HT patients.

  4. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

    Science.gov (United States)

    Yilmaz, Sanem; Serin, Mine; Canda, Ebru; Eraslan, Cenk; Tekin, Hande; Ucar, Sema Kalkan; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, Gul

    2017-06-01

    Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.

  5. Cell-Specific Loss of SNAP25 from Cortical Projection Neurons Allows Normal Development but Causes Subsequent Neurodegeneration.

    Science.gov (United States)

    Hoerder-Suabedissen, Anna; Korrell, Kim V; Hayashi, Shuichi; Jeans, Alexander; Ramirez, Denise M O; Grant, Eleanor; Christian, Helen C; Kavalali, Ege T; Wilson, Michael C; Molnár, Zoltán

    2018-05-30

    Synaptosomal associated protein 25 kDa (SNAP25) is an essential component of the SNARE complex regulating synaptic vesicle fusion. SNAP25 deficiency has been implicated in a variety of cognitive disorders. We ablated SNAP25 from selected neuronal populations by generating a transgenic mouse (B6-Snap25tm3mcw (Snap25-flox)) with LoxP sites flanking exon5a/5b. In the presence of Cre-recombinase, Snap25-flox is recombined to a truncated transcript. Evoked synaptic vesicle release is severely reduced in Snap25 conditional knockout (cKO) neurons as shown by live cell imaging of synaptic vesicle fusion and whole cell patch clamp recordings in cultured hippocampal neurons. We studied Snap25 cKO in subsets of cortical projection neurons in vivo (L5-Rbp4-Cre; L6-Ntsr1-Cre; L6b-Drd1a-Cre). cKO neurons develop normal axonal projections, but axons are not maintained appropriately, showing signs of swelling, fragmentation and eventually complete absence. Onset and progression of degeneration are dependent on the neuron type, with L5 cells showing the earliest and most severe axonal loss. Ultrastructural examination revealed that cKO neurites contain autophagosome/lysosome-like structures. Markers of inflammation such as Iba1 and lipofuscin are increased only in adult cKO cortex. Snap25 cKO can provide a model to study genetic interactions with environmental influences in several disorders.

  6. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    Science.gov (United States)

    Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, François; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A; Hernandez, Dena G; Heutink, Peter; Gibbs, J Raphael; Hardy, John; Wood, Nicholas W; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-François; Tazir, Meriem; Destée, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis

    2016-03-03

    Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  7. Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

    Science.gov (United States)

    Kabashi, Edor; Lin, Li; Tradewell, Miranda L; Dion, Patrick A; Bercier, Valérie; Bourgouin, Patrick; Rochefort, Daniel; Bel Hadj, Samar; Durham, Heather D; Vande Velde, Christine; Rouleau, Guy A; Drapeau, Pierre

    2010-02-15

    TDP-43 has been found in inclusion bodies of multiple neurological disorders, including amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's disease. Mutations in the TDP-43 encoding gene, TARDBP, have been subsequently reported in sporadic and familial ALS patients. In order to investigate the pathogenic nature of these mutants, the effects of three consistently reported TARDBP mutations (A315T, G348C and A382T) were tested in cell lines, primary cultured motor neurons and living zebrafish embryos. Each of the three mutants and wild-type (WT) human TDP-43 localized to nuclei when expressed in COS1 and Neuro2A cells by transient transfection. However, when expressed in motor neurons from dissociated spinal cord cultures these mutant TARDBP alleles, but less so for WT TARDBP, were neurotoxic, concomitant with perinuclear localization and aggregation of TDP-43. Finally, overexpression of mutant, but less so of WT, human TARDBP caused a motor phenotype in zebrafish (Danio rerio) embryos consisting of shorter motor neuronal axons, premature and excessive branching as well as swimming deficits. Interestingly, knock-down of zebrafisfh tardbp led to a similar phenotype, which was rescued by co-expressing WT but not mutant human TARDBP. Together these approaches showed that TARDBP mutations cause motor neuron defects and toxicity, suggesting that both a toxic gain of function as well as a novel loss of function may be involved in the molecular mechanism by which mutant TDP-43 contributes to disease pathogenesis.

  8. Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.

    Science.gov (United States)

    Zhang, Yanping; Wang, Ju; Li, Lina; Sun, Yurui; Feng, Bo

    2010-07-01

    The three most common GJB2 mutations found in the Chinese populations, c.235delC, c.299-300delAT, and c.176-191de1 (16) bp, cannot form gap junctons (GJs) in the plasma membrane. These mutant proteins were retained in the endoplasmic reticulum (ER), suggesting that ER stress (ERS) and subsequent ERS-induced cell death may be responsible for hearing loss caused by these GJB2 truncation mutations. The objective of this study was to investigate the subcellular location of the protein products of three GJB2 mutants (c.235de1C, c.299-300delAT, and c.176-191de1 (16) bp) and to explore the deafness mechanism caused by these GJB2 truncation mutations. Mutant-eGFP fusion protein vectors were constructed by PCR and TA cloning. HEK293 cells were transfected by a liposome-mediated method. Transfected cells were incubated with ER-Tracker and observed under a confocal microscope. Cells transfected with wild type gave characteristic punctuate patterns of GJs in the cell membrane. In contrast, c.235de1C, c.299-300delAT, and c.176-191de1 (16) bp mutant proteins were found to be trapped in the ER, and were therefore unable to form GJs in the plasma membrane.

  9. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  10. Loss-of-function mutations in SCN4A> cause severe foetal hypokinesia or 'classical' congenital myopathy

    DEFF Research Database (Denmark)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C

    2016-01-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal...

  11. The loss rates of O+ in the inner magnetosphere caused by both magnetic field line curvature scattering and charge exchange reactions

    Science.gov (United States)

    Ji, Y.; Shen, C.

    2014-03-01

    With consideration of magnetic field line curvature (FLC) pitch angle scattering and charge exchange reactions, the O+ (>300 keV) in the inner magnetosphere loss rates are investigated by using an eigenfunction analysis. The FLC scattering provides a mechanism for the ring current O+ to enter the loss cone and influence the loss rates caused by charge exchange reactions. Assuming that the pitch angle change is small for each scattering event, the diffusion equation including a charge exchange term is constructed and solved; the eigenvalues of the equation are identified. The resultant loss rates of O+ are approximately equal to the linear superposition of the loss rate without considering the charge exchange reactions and the loss rate associated with charge exchange reactions alone. The loss time is consistent with the observations from the early recovery phases of magnetic storms.

  12. The loss rates of O{sup +} in the inner magnetosphere caused by both magnetic field line curvature scattering and charge exchange reactions

    Energy Technology Data Exchange (ETDEWEB)

    Ji, Y., E-mail: yji@spaceweather.ac.cn [State Key Laboratory of Space Weather, Center for Space Science and Applied Research, Chinese Academy of Sciences, Beijing 100190 (China); College of Earth Science, University of Chinese Academy of Sciences, Beijing 100049 (China); Shen, C. [State Key Laboratory of Space Weather, Center for Space Science and Applied Research, Chinese Academy of Sciences, Beijing 100190 (China)

    2014-03-15

    With consideration of magnetic field line curvature (FLC) pitch angle scattering and charge exchange reactions, the O{sup +} (>300 keV) in the inner magnetosphere loss rates are investigated by using an eigenfunction analysis. The FLC scattering provides a mechanism for the ring current O{sup +} to enter the loss cone and influence the loss rates caused by charge exchange reactions. Assuming that the pitch angle change is small for each scattering event, the diffusion equation including a charge exchange term is constructed and solved; the eigenvalues of the equation are identified. The resultant loss rates of O{sup +} are approximately equal to the linear superposition of the loss rate without considering the charge exchange reactions and the loss rate associated with charge exchange reactions alone. The loss time is consistent with the observations from the early recovery phases of magnetic storms.

  13. Assessment of patient perception of glaucomatous visual field loss and its association with disease severity using Amsler grid.

    Directory of Open Access Journals (Sweden)

    Kenji Fujitani

    Full Text Available To investigate patients' perception of glaucomatous VF loss and its association with glaucoma severity using the Amsler grid test.In this prospective cross-sectional study, glaucoma patients with abnormal 10-2 Humphrey Swedish Interactive Threshold Algorithm-standard VF tests were enrolled consecutively. All patients underwent a black-on-white Amsler grid test for each eligible eye. They were asked to outline any perceived scotomas (areas with abnormal grid lines on the grid and then describe verbally their perception of the scotomas. Examiners asked patients to clarify their descriptions. All descriptions used by patients were recorded in their own words, which were then sorted into descriptor categories according to similar themes. The number of descriptor categories was counted for each eye. 10-2 VF mean deviation (MD was compared among eyes that reported different number of descriptor categories. The mean 10-2 VF MD values were compared among different descriptor categories.Fifty glaucoma patients (88 eyes were included. Patients used a total of 44 different descriptors for their scotomas. Patients' descriptors were classified into categories that incorporated similar themes, resulting in 4 overarching descriptor categories: Missing/White, Blurry/Gray, Black, and Not Aware. Fifty-two eyes reported one descriptor category and 19 eyes reported two descriptor categories (mean number of descriptor categories = 1.27±0.45. Eyes that reported two descriptor categories had worse VF MD than those that reported one (-17.86±10.31 dB vs. -12.08±7.53 dB; p = 0.012. When eyes were organized according to its combination of descriptor categories, each eye naturally sorted into one of the following 5 groups, in frequency order: Missing/White (27 eyes; 31%, Blurry/Gray (21 eyes; 24%, combined Missing/White and Blurry/Gray (19 eyes; 21%, Not Aware (17 eyes; 19%, and Black (4 eyes; 5%. The mean 10-2 VF MD severity order was Black (-21.18±10.59 dB, combined

  14. Did Eucalyptus contribute to environment degradation? Implications from a dispute on causes of severe drought in Yunnan and Guizhou, China

    Directory of Open Access Journals (Sweden)

    WenJun Zhang

    2012-06-01

    Full Text Available Various viewpoints were proposed to explain the causes of recent years' severe drought occurred in Yunnan and Guizhou, China. In general there are two parties of viewpoints, the Eucalyptus cause and climate change cause. I think Yunnan-Guizhou drought has been mainly caused by abnormal climate change. Eucalyptus was not significant in the formation of Yunnan-Guizhou drought. However, the forestation effect of Eucalyptus in China was not good. Environment quality and biodiversity in Eucalyptus plantation forests has been degrading in last decades. Enhancement of alleopathy of Eucalyptus trees under drought conditions would partly contribute to biodiversity reduction and environment degradation in Eucalyptus plantation forests. For existing Eucalyptus plantation forests of Yunnan, I suggest that some improvement measures should be adopted. Artificial weeding and cleaning in Eucalyptus plantation forests should be banned. Density of Eucalyptus trees needs to be reduced. Biodiversity should be artificially improved in Eucalyptus plantation forests. In the future, the mountains and lands with better vegetation cover must not be reclaimed for Eucalyptus planting. Eucalyptus plantation forests should be made in barren mountains and lands with poor biodiversity.

  15. Application of the Finite Element Method to Reveal the Causes of Loss of Planeness of Hot-Rolled Steel Sheets during Laser Cutting

    Science.gov (United States)

    Garber, E. A.; Bolobanova, N. L.; Trusov, K. A.

    2018-01-01

    A finite element technique is developed to simulate the stresses and the strains during strip flattening to reveal the causes of the cutting-assisted loss of planeness of hot-rolled steel sheets processed in roller levelers. The loss of planeness is found to be caused by a nonuniform distribution of the flattening-induced longitudinal tensile stresses over the strip thickness and width. The application of tensile forces to a strip in a roller leveler decreases this nonuniformity and prevents loss of planeness in cutting.

  16. The use of hearing protection devices with approach risk perception of noise induced hearing loss in several manufacturing industry

    Directory of Open Access Journals (Sweden)

    Behzad Fouladi Deahghi

    2015-06-01

    Full Text Available Background & Objective : Noise is a widespread physical agent and although is a most risk factors in workplaces that workers of health to exposed. Thus, different actions is done for reduce exposure to it in work places, which one of them is use of hearing protection devices. The use of hearing protection devices with approach risk perception of noise induced hearing loss in several manufacturing industry Method: This study was Cross-sectional study and done in five industrial unit with a sound pressure level more of 85 dB-A with the participation of 340 workers. To collect data , individual risk perception and self-investigator questionnaires were used. After collecting data, statistical analysis including Cronbach's alpha and regression were used to analyze the data. Results : Range use of hearing protection devices during shifts work by workers, respectively equal to: 50.4% sometimes, 31.58% never and 18.2% at all times. Also, results indicate significant differences between individual differences and hearing protection devices. Conclusion : Results of this study showed that individual risk perception as an important factor, can do a significant role in predicting the behavior of personals in the use of hearing protection devices, which should be considered in any design and implementation of hearing protection program.

  17. Are Auditory Steady-State Responses Useful to Evaluate Severe-to-Profound Hearing Loss in Children?

    Science.gov (United States)

    Grasel, Signe Schuster; de Almeida, Edigar Rezende; Beck, Roberto Miquelino de Oliveira; Goffi-Gomez, Maria Valéria Schmidt; Ramos, Henrique Faria; Rossi, Amanda Costa; Koji Tsuji, Robinson; Bento, Ricardo Ferreira; de Brito, Rubens

    2015-01-01

    To evaluate Auditory Steady-State Responses (ASSR) at high intensities in pediatric cochlear implant candidates and to compare the results to behavioral tests responses. This prospective study evaluated 42 children with suspected severe-to-profound hearing loss, aged from 3 to 72 months. All had absent ABR and OAE responses. ASSR were evoked using binaural single frequency stimuli at 110 dB HL with a 10 dB down-seeking procedure. ASSR and behavioral test results were compared. Forty-two subjects completed both ASSR and behavioral evaluation. Eleven children (26.2%) had bilateral responses. Four (9.5%) showed unilateral responses in at least two frequencies, all confirmed by behavioral results. Overall 61 ASSR responses were obtained, most (37.7%) in 500 Hz. Mean thresholds were between 101.3 and 104.2 dB HL. Among 27 subjects with absent ASSR, fifteen had no behavioral responses. Seven subjects showed behavioral responses with absent ASSR responses. No spurious ASSR responses were observed at 100 or 110 dB HL. ASSR is a valuable tool to detect residual hearing. No false-positive ASSR results were observed among 42 children, but in seven cases with absent ASSR, the test underestimated residual hearing as compared to the behavioral responses.

  18. Are Auditory Steady-State Responses Useful to Evaluate Severe-to-Profound Hearing Loss in Children?

    Directory of Open Access Journals (Sweden)

    Signe Schuster Grasel

    2015-01-01

    Full Text Available Objective. To evaluate Auditory Steady-State Responses (ASSR at high intensities in pediatric cochlear implant candidates and to compare the results to behavioral tests responses. Methods. This prospective study evaluated 42 children with suspected severe-to-profound hearing loss, aged from 3 to 72 months. All had absent ABR and OAE responses. ASSR were evoked using binaural single frequency stimuli at 110 dB HL with a 10 dB down-seeking procedure. ASSR and behavioral test results were compared. Results. Forty-two subjects completed both ASSR and behavioral evaluation. Eleven children (26.2% had bilateral responses. Four (9.5% showed unilateral responses in at least two frequencies, all confirmed by behavioral results. Overall 61 ASSR responses were obtained, most (37.7% in 500 Hz. Mean thresholds were between 101.3 and 104.2 dB HL. Among 27 subjects with absent ASSR, fifteen had no behavioral responses. Seven subjects showed behavioral responses with absent ASSR responses. No spurious ASSR responses were observed at 100 or 110 dB HL. Conclusion. ASSR is a valuable tool to detect residual hearing. No false-positive ASSR results were observed among 42 children, but in seven cases with absent ASSR, the test underestimated residual hearing as compared to the behavioral responses.

  19. Loss of function in Mlo orthologs reduces susceptibility of pepper and tomato to powdery mildew disease caused by Leveillula taurica.

    Directory of Open Access Journals (Sweden)

    Zheng Zheng

    Full Text Available Powdery mildew disease caused by Leveillula taurica is a serious fungal threat to greenhouse tomato and pepper production. In contrast to most powdery mildew species which are epiphytic, L. taurica is an endophytic fungus colonizing the mesophyll tissues of the leaf. In barley, Arabidopsis, tomato and pea, the correct functioning of specific homologues of the plant Mlo gene family has been found to be required for pathogenesis of epiphytic powdery mildew fungi. The aim of this study was to investigate the involvement of the Mlo genes in susceptibility to the endophytic fungus L. taurica. In tomato (Solanum lycopersicum, a loss-of-function mutation in the SlMlo1 gene results in resistance to powdery mildew disease caused by Oidium neolycopersici. When the tomato Slmlo1 mutant was inoculated with L. taurica in this study, it proved to be less susceptible compared to the control, S. lycopersicum cv. Moneymaker. Further, overexpression of SlMlo1 in the tomato Slmlo1 mutant enhanced susceptibility to L. taurica. In pepper, the CaMlo2 gene was isolated by applying a homology-based cloning approach. Compared to the previously identified CaMlo1 gene, the CaMlo2 gene is more similar to SlMlo1 as shown by phylogenetic analysis, and the expression of CaMlo2 is up-regulated at an earlier time point upon L. taurica infection. However, results of virus-induced gene silencing suggest that both CaMlo1 and CaMlo2 may be involved in the susceptibility of pepper to L. taurica. The fact that overexpression of CaMlo2 restored the susceptibility of the tomato Slmlo1 mutant to O. neolycopersici and increased its susceptibility to L. taurica confirmed the role of CaMlo2 acting as a susceptibility factor to different powdery mildews, though the role of CaMlo1 as a co-factor for susceptibility cannot be excluded.

  20. Upper gastrointestinal bleeding in severely burned patients: a case-control study to assess risk factors, causes, and outcome.

    Science.gov (United States)

    Kim, Young Jin; Koh, Dong Hee; Park, Se Woo; Park, Sun Man; Choi, Min Ho; Jang, Hyun Joo; Kae, Sea Hyub; Lee, Jin; Byun, Hyun Woo

    2014-01-01

    To determine the risk factors, causes, and outcome of clinically important upper gastrointestinal bleeding that occurs in severely burned patients. The charts of all patients admitted to the burn intensive care unit were analyzed retrospectively over a 4-year period (from January 2006 to December 2009). Cases consisted of burned patients who developed upper gastrointestinal bleeding more than 24 hours after admission to the burn intensive care unit. Controls were a set of patients, in the burn intensive care unit, without upper gastrointestinal bleeding matched with cases for age and gender. Cases and controls were compared with respect to the risk factors of upper gastrointestinal bleeding and outcomes. During the study period, clinically important upper gastrointestinal bleeding occurred in 20 patients out of all 964 patients. The most common cause of upper gastrointestinal bleeding was duodenal ulcer (11 of 20 cases, 55%). In the multivariate analysis, mechanical ventilation (p = 0.044) and coagulopathy (p = 0.035) were found to be the independent predictors of upper gastrointestinal bleeding in severely burned patients. Upper gastrointestinal hemorrhage tends to occur more frequently after having prolonged mechanical ventilation and coagulopathy.

  1. Mutation of p107 exacerbates the consequences of Rb loss in embryonic tissues and causes cardiac and blood vessel defects.

    Science.gov (United States)

    Berman, Seth D; West, Julie C; Danielian, Paul S; Caron, Alicia M; Stone, James R; Lees, Jacqueline A

    2009-09-01

    The retinoblastoma tumor-suppressor protein, pRb, is a member of the pocket protein family that includes p107 and p130. These proteins have well-defined roles in regulating entry into and exit from the cell cycle and also have cell cycle-independent roles in facilitating differentiation. Here we investigate the overlap between pocket protein's function during embryonic development by using conditional mutant alleles to generate Rb;p107 double-mutant embryos (DKOs) that develop in the absence of placental defects. These DKOs die between e13.5 and e14.5, much earlier than either the conditional Rb or the germline p107 single mutants, which survive to birth or are largely viable, respectively. Analyses of the e13.5 DKOs shows that p107 mutation exacerbates the phenotypes resulting from pRb loss in the central nervous system and lens, but not in the peripheral nervous system. In addition, these embryos exhibit novel phenotypes, including increased proliferation of blood vessel endothelial cells, and heart defects, including double-outlet right ventricle (DORV). The DORV is caused, at least in part, by a defect in blood vessel endothelial cells and/or heart mesenchymal cells. These findings demonstrate novel, overlapping functions for pRb and p107 in numerous murine tissues.

  2. Analysis of factors causing signal loss in the measurement of lung tissue water by nuclear magnetic resonance

    International Nuclear Information System (INIS)

    Fukuzaki, Minoru; Shioya, Sumie; Haida, Munetaka

    1997-01-01

    The water content of lung, brain, and muscle tissue was measured by nuclear magnetic resonance (NMR) and compared with gravimetric determinations. The NMR signal intensity of water was measured by a single 90 degree pulse and by a spin-echo sequence. The absolute water content was determined by the difference in the sample's weight before and after desiccation. The NMR detectable water in each tissue was expressed as a percentage of the signal intensity for an equal weight of distilled water. Using the single pulse measurement, 67% of the gravimetrically-measured water was detected in collapsed lung samples (consisting of about 47% retained air), in contrast to 96% for brain and 98% for muscle. For degassed lung samples, the NMR detectability of water increased to 87% with the single pulse measurement and to 90% with the spin-echo measurement, but the values remained significantly less than those of brain or muscle. Factors that caused the NMR signal loss of 33% in collapsed lung samples were: air-tissue interfaces (20%), microscopic field inhomogeneity (3%), and a water component with an extremely short magnetization decay time constant (10%). (author)

  3. Acute loss of the hepatic endo-lysosomal system in vivo causes compensatory changes in iron homeostasis.

    Science.gov (United States)

    Metzendorf, Christoph; Zeigerer, Anja; Seifert, Sarah; Sparla, Richard; Najafi, Bahar; Canonne-Hergaux, François; Zerial, Marino; Muckenthaler, Martina U

    2017-06-22

    Liver cells communicate with the extracellular environment to take up nutrients via endocytosis. Iron uptake is essential for metabolic activities and cell homeostasis. Here, we investigated the role of the endocytic system for maintaining iron homeostasis. We specifically depleted the small GTPase Rab5 in the mouse liver, causing a transient loss of the entire endo-lysosomal system. Strikingly, endosome depletion led to a fast reduction of hepatic iron levels, which was preceded by an increased abundance of the iron exporter ferroportin. Compensatory changes in livers of Rab5-depleted mice include increased expression of transferrin receptor 1 as well as reduced expression of the iron-regulatory hormone hepcidin. Serum iron indices (serum iron, free iron binding capacity and total iron binding capacity) in Rab5-KD mice were increased, consistent with an elevated splenic and hepatic iron export. Our data emphasize the critical importance of the endosomal compartments in hepatocytes to maintain hepatic and systemic iron homeostasis in vivo. The short time period (between day four and five) upon which these changes occur underscore the fast dynamics of the liver iron pool.

  4. Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.

    Science.gov (United States)

    Fang, Xi; Bogomolovas, Julius; Wu, Tongbin; Zhang, Wei; Liu, Canzhao; Veevers, Jennifer; Stroud, Matthew J; Zhang, Zhiyuan; Ma, Xiaolong; Mu, Yongxin; Lao, Dieu-Hung; Dalton, Nancy D; Gu, Yusu; Wang, Celine; Wang, Michael; Liang, Yan; Lange, Stephan; Ouyang, Kunfu; Peterson, Kirk L; Evans, Sylvia M; Chen, Ju

    2017-08-01

    Defective protein quality control (PQC) systems are implicated in multiple diseases. Molecular chaperones and co-chaperones play a central role in functioning PQC. Constant mechanical and metabolic stress in cardiomyocytes places great demand on the PQC system. Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM). However, the role of BAG3 in the heart and the mechanisms by which the E455K mutation leads to DCM remain obscure. Here, we found that cardiac-specific Bag3-KO and E455K-knockin mice developed DCM. Comparable phenotypes in the 2 mutants demonstrated that the E455K mutation resulted in loss of function. Further experiments revealed that the E455K mutation disrupted the interaction between BAG3 and HSP70. In both mutants, decreased levels of small heat shock proteins (sHSPs) were observed, and a subset of proteins required for cardiomyocyte function was enriched in the insoluble fraction. Together, these observations suggest that interaction between BAG3 and HSP70 is essential for BAG3 to stabilize sHSPs and maintain cardiomyocyte protein homeostasis. Our results provide insight into heart failure caused by defects in BAG3 pathways and suggest that increasing BAG3 protein levels may be of therapeutic benefit in heart failure.

  5. Treatment planning for patients with dental arch asymmetry caused by loss of a premolar on one side of the mouth

    Directory of Open Access Journals (Sweden)

    Ivanova О.P.

    2013-09-01

    Full Text Available The objective of this study is to determine a selection criterion that is applicable for the treatment of patients with dental arch asymmetry caused by loss of a premolar on one side of the mouth. Material and methods. Fifty-seven patients (first maturity level who had some teeth extracted for orthodontic treatment were included in the study. The patients were divided into basic and control groups. We proposed to shape the extraction socket immediately after the extraction of a permanent tooth. In the basic group the extraction sockets were filled with osteoplastic material. Patients in the control group refused any surgical interventions. Results. According to a given criterion, the correlation between tooth size and dental arch parameters has been determined. When applying this criterion for finding the correlation, the frontal distal diagonal size of the dental arch was multiplied by 1.14 coefficient. The sum of the mesiodistal diameters of seven teeth in the half-arc was subtracted from the obtained value. The value which was equal to 0±1.0mm indicated the correlation between tooth size and dental arch parameters. Conclusion. If there is a correlation between tooth size and dental arch parameters, it is advisable to provide treatment associated with having the post-extraction socket opened and implant therapy performed (most commonly with the use of intraosseous dental implants.

  6. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

    Science.gov (United States)

    Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A; Fliegauf, Manfred; Sayar, Esra H; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S Ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo

    2015-12-20

    Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

    Science.gov (United States)

    Niepokój, Katarzyna; Rygiel, Agnieszka M; Jurczak, Piotr; Kujko, Aleksandra A; Śniegórska, Dominika; Sawicka, Justyna; Grabarczyk, Alicja; Bal, Jerzy; Wertheim-Tysarowska, Katarzyna

    2018-02-01

    Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.

  8. APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

    Directory of Open Access Journals (Sweden)

    Dussaillant Catalina

    2012-11-01

    Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

  9. APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

    Science.gov (United States)

    Dussaillant, Catalina; Serrano, Valentina; Maiz, Alberto; Eyheramendy, Susana; Cataldo, Luis Rodrigo; Chavez, Matías; Smalley, Susan V; Fuentes, Marcela; Rigotti, Attilio; Rubio, Lorena; Lagos, Carlos F; Martinez, José Alfredo; Santos, José Luis

    2012-11-15

    Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

  10. The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura

    KAUST Repository

    Lancellotti, S.

    2015-08-13

    Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13 gene. About 100 mutations of the ADAMTS-13 gene were identified so far, although only a few characterised by in vitro expression studies. A new Asp to Gly homozygous mutation at position 173 of ADAMTS-13 sequence was identified in a family of Romanian origin, with some members affected by clinical signs of TTP. In two male sons, this mutation caused a severe (< 3 %) deficiency of ADAMTS-13 activity and antigen level, associated with periodic thrombocytopenia, haemolytic anaemia and mild mental confusion. Both parents, who are cousins, showed the same mutation in heterozygous form. Expression studies of the mutant ADAMTS-13, performed in HEK293 cells, showed a severe decrease of the enzyme’s activity and secretion, although the protease was detected inside the cells. Molecular dynamics found that in the D173G mutant the interface area between the metalloprotease domain and the disintegrin-like domain significantly decreases during the simulations, while the proline-rich 20 residues linker region (LR, 285–304) between them undergoes extensive conformational changes. Inter-domain contacts are also significantly less conserved in the mutant compared to the wild-type. Both a decrease of the inter-domain contacts along with a substantial conformational rearrangement of LR interfere with the proper maturation and folding of the mutant ADAMTS-13, thus impairing its secretion.

  11. Causes of Severe Visual Impairment and Blindness: Comparative Data From Bhutanese and Laotian Schools for the Blind.

    Science.gov (United States)

    Farmer, Lachlan David Mailey; Ng, Soo Khai; Rudkin, Adam; Craig, Jamie; Wangmo, Dechen; Tsang, Hughie; Southisombath, Khamphoua; Griffiths, Andrew; Muecke, James

    2015-01-01

    To determine and compare the major causes of childhood blindness and severe visual impairment in Bhutan and Laos. Independent cross-sectional surveys. This survey consists of 2 cross-sectional observational studies. The Bhutanese component was undertaken at the National Institute for Vision Impairment, the only dedicated school for the blind in Bhutan. The Laotian study was conducted at the National Ophthalmology Centre and Vientiane School for the Blind. Children younger than age 16 were invited to participate. A detailed history and examination were performed consistent with the World Health Organization Prevention of Blindness Eye Examination Record. Of the 53 children examined in both studies, 30 were from Bhutan and 23 were from Laos. Forty percent of Bhutanese and 87.1% of Laotian children assessed were blind, with 26.7% and 4.3%, respectively, being severely visually impaired. Congenital causes of blindness were the most common, representing 45% and 43.5% of the Bhutanese and Laotian children, respectively. Anatomically, the primary site of blinding pathology differed between the cohorts. In Bhutan, the lens comprised 25%, with whole globe at 20% and retina at 15%, but in Laos, whole globe and cornea equally contributed at 30.4%, followed by retina at 17.4%. There was an observable difference in the rates of blindness/severe visual impairment due to measles, with no cases observed in the Bhutanese children but 20.7% of the total pathologies in the Laotian children attributable to congenital measles infection. Consistent with other studies, there is a high rate of blinding disease, which may be prevented, treated, or ameliorated.

  12. The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura

    KAUST Repository

    Lancellotti, S.; Peyvandi, F.; Pagliari, M.; Cairo, A.; Abdel-Azeim, Safwat; Chermak, Edrisse; Lazzareschi, I.; Mastrangelo, S.; Cavallo, Luigi; Oliva, R.; De Cristofaro, R.

    2015-01-01

    Congenital thrombotic thrombocytopenic purpura (TTP) is a rare form of thrombotic microangiopathy, inherited with autosomal recessive mode as a dysfunction or severe deficiency of ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin 1 repeats Nr. 13), caused by mutations in the ADAMTS-13 gene. About 100 mutations of the ADAMTS-13 gene were identified so far, although only a few characterised by in vitro expression studies. A new Asp to Gly homozygous mutation at position 173 of ADAMTS-13 sequence was identified in a family of Romanian origin, with some members affected by clinical signs of TTP. In two male sons, this mutation caused a severe (< 3 %) deficiency of ADAMTS-13 activity and antigen level, associated with periodic thrombocytopenia, haemolytic anaemia and mild mental confusion. Both parents, who are cousins, showed the same mutation in heterozygous form. Expression studies of the mutant ADAMTS-13, performed in HEK293 cells, showed a severe decrease of the enzyme’s activity and secretion, although the protease was detected inside the cells. Molecular dynamics found that in the D173G mutant the interface area between the metalloprotease domain and the disintegrin-like domain significantly decreases during the simulations, while the proline-rich 20 residues linker region (LR, 285–304) between them undergoes extensive conformational changes. Inter-domain contacts are also significantly less conserved in the mutant compared to the wild-type. Both a decrease of the inter-domain contacts along with a substantial conformational rearrangement of LR interfere with the proper maturation and folding of the mutant ADAMTS-13, thus impairing its secretion.

  13. Causes and consequences of the loss of serotonergic presynapses elicited by the consumption of 3,4-methylenedioxymethamphetamine (MDMA, "ecstasy") and its congeners.

    Science.gov (United States)

    Huether, G; Zhou, D; Rüther, E

    1997-01-01

    The massive and prolonged stimulation of serotonin (5-HT)-release and the increased dopaminergic activity are responsible for the acute psychomimetic and psychostimulatory effects of 3,4-methylenedioxy-methamphetamine (MDMA, "ecstasy") and its congeners. In vulnerable subjects, at high doses or repeated use, and under certain unfavorable conditions (crowding, high ambient temperature), severe, in some cases fatal, averse systemic reactions (hyperthermia, serotonin-syndrome) may occur during the first few hours. Animal experiments revealed the existence of similar differences in vulnerability and similar dose- and context-related influences on a similar sequence of acute responses. The severity of these acute systemic responses is closely related to the severity of the long-term damage to 5-HT axon terminals caused by the administration of substituted amphetamines. Attempts to identify the mechanisms involved in this selective degeneration of 5-HT presynapses brought to light a multitude of different factors and conditions which either attenuate or potentiate the loss of 5-HT terminals caused by MDMA and related amphetamine derivatives. These puzzling observations suggest that the degeneration of 5-HT presynapses represents only the final step in a sequence of events which compromise the ability of 5-HT terminals to maintain their functional and structural integrity. Substituted amphetamines selectively tax energy metabolism in 5-HT presynapses through their ability to exchange with 5-HT and to dissipate transmembrane ion gradients. The active carrier systems in the vesicular and presynaptic membrane operate at a permanently activated state. The resulting energy deficit can no longer adequately restored by the 5-HT presynapses when their availability of substrates for ATP production is additionally reduced by the hyperthermic and other energy consuming reactions which are elicited by the systemic administration of substituted amphetamines. The exhaustion of energy

  14. Clinical study of columnar balloon dilatation therapy for severe dysphagia caused by upper esophageal sphincter achalasia after stroke

    Directory of Open Access Journals (Sweden)

    Wei-bo SHAO

    2017-03-01

    Full Text Available Objective To investigate the mechanism and effect of columnar balloon dilatation therapy on treating patients with severe dysphagia caused by upper esophageal sphincter (UES achalasia after stroke. Methods Sixty -four patients with severe dysphagia caused by UES achalasia after stroke were diagnosed through Video Fluoroscopic Swallowing Study (VFSS and esophageal dynamics testing. The patients were randomly divided into control group (N = 32 and treatment group (N = 32. Patients in control group were treated with routine drug treatment and routine rehabilitation training, while patients in treatment group were treated with columnar balloon dilatation therapy on the basis of routine treatment. The treatment end point was either the patient resuming an oral diet or after 4-weeks treatment. All cases were evaluated by swallowing function of VFSS, high resolution manometry (HRM and scores of the severity of dysphagia before treatment and at treatment end point. Results Compared with before treatment, UES resting pressure (P = 0.000 and residual pressure (P = 0.000 were significantly decreased, peak pressure was significantly increased (P = 0.000, duration of relaxation was prolonged (P = 0.000, and scores of the severity of dysphagia were significantly increased (P = 0.000, 0.000 in both groups after treatment. Compared with control group, UES resting pressure (P = 0.001 and residual pressure (P = 0.000 were significantly decreased, peak pressure was significantly increased (P = 0.002, duration of relaxation was prolonged (P = 0.000, and scores of the severity of dysphagia were significantly increased (P = 0.000 in treatment group after treatment. Until the treatment end point or after 4-week treatment, the total effective rate in treatment group was significantly higher than that in control group [93.75% (30/32 vs. 81.25% (26/32; χ2 = 4.010, P = 0.000]. Conclusions Columnar balloon dilatation therapy is effective for reducing the tension of upper

  15. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

    Science.gov (United States)

    Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A

    2014-05-01

    Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and i