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  1. Left ventricular global longitudinal strain is predictive of all-cause mortality independent of aortic stenosis severity and ejection fraction.

    Science.gov (United States)

    Ng, Arnold C T; Prihadi, Edgard A; Antoni, M Louisa; Bertini, Matteo; Ewe, See Hooi; Ajmone Marsan, Nina; Leung, Dominic Y; Delgado, Victoria; Bax, Jeroen J

    2017-07-28

    Left ventricular (LV) global longitudinal strain (GLS) may identify subclinical myocardial dysfunction in patients with aortic stenosis (AS). The aims of the present retrospective single centre study were to determine the independent prognostic value of LV GLS over LV ejection fraction (EF) and the role of LV GLS to further risk stratify severe AS patients before aortic valve replacement. A total of 688 patients (median age 72 years, 61.2% men) with mild (n = 130), moderate (n = 264) and severe AS (n = 294) were included. LV GLS was determined by 2D speckle tracking echocardiography. A total of 114 (16.6%) patients died before surgery during the study. When patients with severe AS and normal LVEF were dichotomized based on the median LV GLS value (-14.0%), patients with normal LVEF and 'preserved' LV GLS of ≤ -14% had significantly higher survival than patients with 'impaired' LV GLS of > -14%. There was no difference in survival between patients with normal LVEF but 'impaired' LV GLS ( > -14%) and patients with impaired LVEF (log-rank P = 0.34). LV GLS was independently associated with all-cause mortality on multivariable Cox regression analysis (hazard ratio 1.17, 95% confidence interval 1.09-1.26; P optimal timing of aortic valve replacement. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  2. Hepatopulmonary syndrome causing severe hypoxaemia

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    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....

  3. Neglect severity after left and right brain damage.

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    Suchan, Julia; Rorden, Chris; Karnath, Hans-Otto

    2012-05-01

    While unilateral spatial neglect after left brain damage is undoubtedly less common than spatial neglect after a right hemisphere lesion, it is also assumed to be less severe. Here we directly test this latter hypothesis using a continuous measure of neglect severity: the so-called Center of Cancellation (CoC). Rorden and Karnath (2010) recently validated this index for right brain damaged neglect patients. A first aim of the present study was to evaluate this new measure for spatial neglect after left brain damage. In a group of 48 left-sided stroke patients with and without neglect, a score greater than -0.086 on the Bells Test and greater than -0.024 on the Letter Cancellation Task turned out to indicate neglect behavior for acute left brain damaged patients. A second aim was to directly compare the severity of spatial neglect after left versus right brain injury by using the new CoC measure. While neglect is less frequent following left than right hemisphere injury, we found that when this symptom occurs it is of similar severity in acute left brain injury as in patients after acute right brain injury. Copyright © 2012 Elsevier Ltd. All rights reserved.

  4. Recurrent Syncope Attributed to Left Main Coronary Artery Severe Stenosis

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    Min Li

    2015-01-01

    Full Text Available Patients with acute coronary syndrome (ACS rarely manifest as recurrent syncope due to malignant ventricular arrhythmia. We report a case of a 56-year-old Chinese male with complaints of paroxysmal chest burning sensation and distress for 2 weeks as well as loss of consciousness for 3 days. The electrocardiogram (ECG revealed paroxysmal multimorphologic ventricular tachycardia during attack and normal heart rhythm during intervals. Coronary angiograph showed 90% stenosis in left main coronary artery and 80% stenosis in anterior descending artery. Two stents sized 4.0*18 mm and 2.75*18 mm were placed at left main coronary artery and anterior descending artery, respectively, during percutaneous coronary intervention (PCI. The patient was discharged and never had ventricular arrhythmia again during a 3-month follow-up since the PCI. This indicated that ventricular tachycardia was correlated with persistent severe myocardial ischemia. Coronary vasospasm was highly suspected to be the reason of the sudden attack and acute exacerbation. PCI is recommended in patients with both severe coronary artery stenosis and ventricular arrhythmia. Removing myocardial ischemia may stop or relieve ventricular arrhythmia and prevent cardiac arrest.

  5. Impact of Aortic Valve Replacement on Left Ventricular Remodeling in Patients with Severe Aortic Stenosis and Severe Left Ventricular Dysfunction

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    Abderrahmane Bakkali

    2016-12-01

    Full Text Available Objective: The aim of this study was to evaluate the effect of aortic valve replacement on left ventricular function and remodeling among patients with severe aortic stenosis and severe left ventricular dysfunction. Methods: In this retrospective bicentric study extended over a 15-year period, 61 consecutive patients underwent isolated AVR for severe AS associated to reduced LV function. The mean age was 58.21 ± 12.50 years and 83.60 % were men. 70.50% of patients were in class III or IV NYHA. The mean left ventricular ejection fraction (LVEF was 32.9 ± 5.6.The mean LVEDD and LVESD were respectively 63.6 ± 9.2 and 50.2 ± 8.8 mm. The mean calculated logistic EuroScore was 12.2 ±4.5. Results: The hospital mortality was 11.5%. Morbidity was marked mainly by low output syndrome in 40.8% of cases. After a median follow-up of 38 months we have recorded 3 deaths. Almost all survivors were in class I and II of NYHA. The mean LV end-diastolic and end-systolic diameters decreased significantly at late postoperative stage. The mean LV ejection fraction increased significantly from 32.9 ± 5.6 to 38.2 ± 9.3 and to 50.3 ± 9.6 in early and late postoperative stages, respectively. Multivariate linear regression analysis found that increased early postoperative LVEF (β= 0.44, 95% CI [0.14; 0.75], p=0.006 and low mean transprosthesis gradient (β=-0.72, 95% CI [-1.42; -0.02], p= 0.04 were the independent predictors of left ventricular systolic function recovery. Conclusion: Patients with aortic valve stenosis and impaired LV systolic function benefited from AVR as regard improvement of LV function parameters and regression of the LV diameters .This improvement depends mainly on early postoperative LVEF and mean transprosthesis gradient.

  6. An Unexpected Cause of Severe Hypokalemia

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    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.

  7. Gastric antral vascular ectasia causing severe anemia.

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    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.

  8. 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.

  9. Cardiogenic shock caused by a left midventricular obstruction during refeeding in a patient with anorexia nervosa.

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    Sakamoto, Yoko; Kioka, Hidetaka; Hashimoto, Ryota; Takeda, Saori; Momose, Kota; Ohtani, Tomohito; Yamaguchi, Osamu; Wasa, Masafumi; Nakatani, Satoshi; Sakata, Yasushi

    2017-03-01

    Refeeding syndrome occurs when reinstating nutrition to severely malnourished patients. It can sometimes be fatal, particularly as a result of cardiac involvement such as congestive heart failure and arrhythmias. The aim of this study was to report a case of cardiogenic shock that occurred during refeeding in a patient with anorexia nervosa (AN). The cardiogenic shock was due to a previously unrecognized mechanism, namely a transient left midventricular obstruction that completely disappeared after treatment. A 46-y-old woman with AN who had followed a carbohydrate- and a fat-deficient diet for >10 y was hospitalized for dyspnea on exertion. She had severely impaired cardiac systolic function on admission and was considered high risk for refeeding syndrome. During a stepwise increase of calories, she showed no electrolyte or mineral abnormalities characteristic of refeeding syndrome. After intravenous administration of a fat emulsion, the patient suffered from cardiogenic shock due to an unexpected mechanism, namely a left midventricular obstruction caused by cardiac hypercontraction, a thickened left ventricular wall, and intravascular volume depletion. With cessation of the fat emulsion and initiation of volume repletion she recovered from shock immediately and her echocardiogram returned to normal by discharge. This case illustrated a novel cause of cardiogenic shock during refeeding and the need for caution during the intravenous administration of a fat emulsion in patients with initial left ventricular systolic dysfunction. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Left Atrium Papillary Fibroelastomas: A Cause of Cerebral Emboli

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    A. G. Ciss

    2012-01-01

    Full Text Available Papillary fibroelastomas are cardiac benign tumours. Among the benign cardiac tumor, papillary fibroelastomas are reported second after myxomas. Most often diagnosed incidentally, papillary fibroelastomas may embolize to cerebral circulation. Valvular locations are predominant; location in left atrium is rare. In this paper, we present a case of papillary fibroelastoma located in left atrium with symptoms of cerebral embolization. Transoesophageal echocardiography diagnosed a mobile mass. The patient was treated with surgical resection without further embolic complication.

  11. Longitudinal strain predicts left ventricular mass regression after aortic valve replacement for severe aortic stenosis and preserved left ventricular function.

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    Gelsomino, Sandro; Lucà, Fabiana; Parise, Orlando; Lorusso, Roberto; Rao, Carmelo Massimiliano; Vizzardi, Enrico; Gensini, Gian Franco; Maessen, Jos G

    2013-11-01

    We explored the influence of global longitudinal strain (GLS) measured with two-dimensional speckle-tracking echocardiography on left ventricular mass regression (LVMR) in patients with pure aortic stenosis (AS) and normal left ventricular function undergoing aortic valve replacement (AVR). The study population included 83 patients with severe AS (aortic valve area regression (all P regression in patients with pure AS undergoing AVR. Our findings must be confirmed by further larger studies.

  12. Left atrial leiomyosarcoma as cause of heart failure

    International Nuclear Information System (INIS)

    Valdes Martin, Alexander

    2012-01-01

    The case of a 26 year-old patient with diagnosis of heart failure and presence of a mobile echogenic mass without calcification attached to the posterolateral area of the left atrium was reported. She underwent surgery and tissue examination evidenced a high-grade heart leiomyosarcoma. Postoperative course was satisfactory and her clinical state was rigorously monitored by oncology and heart specialists in the institution

  13. The management of patients with aortic regurgitation and severe left ventricular dysfunction: a systematic review.

    Science.gov (United States)

    Badar, Athar A; Brunton, Alan P T; Mahmood, Ammad H; Dobbin, Stephen; Pozzi, Andrea; McMinn, Jenna F; Sinclair, Andrew J E; Gardner, Roy S; Petrie, Mark C; Curry, Phil A; Al-Attar, Nawwar H K; Pettit, Stephen J

    2015-01-01

    A systematic search of Medline, EMBASE and CINAHL electronic databases was performed. Original research articles reporting all-cause mortality following surgery in patients with aortic regurgitation and severe left ventricular systolic dysfunction (LVSD) were identified. Nine of the 10 eligible studies were observational, single-center, retrospective analyses. Survival ranged from 86 to 100% at 30 days; 81 to 100% at 1 year and 68 to 84% at 5 years. Three studies described an improvement in mean left ventricular ejection fraction (LVEF) following aortic valve replacement (AVR) of 5-14%; a fourth study reported an increase in mean left ventricular ejection fraction (LVEF) of 9% in patients undergoing isolated AVR but not when AVR was combined with coronary artery bypass graft and/or mitral valve surgery. Three studies demonstrated improvements in functional New York Heart Association (NYHA) class following AVR. Additional studies are needed to clarify the benefits of AVR in patients with more extreme degrees of left ventricular systolic dysfunction (LVSD) and the potential roles of cardiac transplantation and transaortic valve implantation.

  14. Scleroderma Renal Crisis: A Reversible Cause of Left Ventricular Dysfunction.

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    Martínez-Milla, Juan; Gaebelt, Hans Paul; Sánchez-Pernaute, Olga; Kallmeyer, Andrea; Romero, José; Farré, Jerónimo

    2018-05-02

    We report a case of acute left ventricular dysfunction due to myocarditis, in the setting of a scleroderma renal crisis. The case is particularly intriguing for the favorable outcome of both symptoms and heart function following immunosuppressive therapy. We also highlight the changes observed over time with image techniques as well as in electrocardiograms. Copyright © 2018 Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. PERIOPERATIVE PERIOD FOLLOWING HEART TRANSPLANTATION WITH SEVERE LEFT VENTRICULAR HYPERTROPHY

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    V. N. Poptsov

    2012-01-01

    Full Text Available Use donor hearts with left ventricular hypertrophy (LVH is controversial. This category of heart recipients has increasing risk of early graft failure. We proposed that heart transplantation (HT with LVH ≥1.5 cm may be successful if performed in selective category patients from alternate transplant list. This study included 10 pati- ents (2 female and 8 male at the age 26–62 (44 ± 3, who needed urgent HT. This study showed that recipients with LVH ≥1.5 cm demanded more high and long inotropic support with adrenalin and dopamine, more fre- quent use of levosimendan infusion (in 40% of cases and intraaortic balloon conterpulsation (in 50% of cases. However we didn’t observed any difference in survival rate (90.0% vs 89.0% and ICU time (4.8 ± 0.6 days vs 4.1 ± 0.4 days between HT recipients with and without LVH. Our study showed that HT from donor with LVH ≥1.5 cm may be performed in patients, demanding urgent HT, with acceptable early posttransplant results. 

  16. 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

  17. 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.

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

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    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.

  19. Central-Approach Surgical Repair of Coarctation of the Aorta with a Back-up Left Ventricular Assist Device for an Infant Presenting with Severe Left Ventricular Dysfunction

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    Tae Hoon Kim

    2015-12-01

    Full Text Available A two-month-old infant presented with coarctation of the aorta, severe left ventricular dysfunction, and moderate to severe mitral regurgitation. Through median sternotomy, the aortic arch was repaired under cardiopulmonary bypass and regional cerebral perfusion. The patient was postoperatively supported with a left ventricular assist device for five days. Left ventricular function gradually improved, eventually recovering with the concomitant regression of mitral regurgitation. Prompt surgical repair of coarctation of the aorta is indicated for patients with severe left ventricular dysfunction. A central approach for surgical repair with a back-up left ventricular assist device is a safe and effective treatment strategy for these patients.

  20. Central-Approach Surgical Repair of Coarctation of the Aorta with a Back-up Left Ventricular Assist Device for an Infant Presenting with Severe Left Ventricular Dysfunction.

    Science.gov (United States)

    Kim, Tae Hoon; Shin, Yu Rim; Kim, Young Sam; Kim, Do Jung; Kim, Hyohyun; Shin, Hong Ju; Htut, Aung Thein; Park, Han Ki

    2015-12-01

    A two-month-old infant presented with coarctation of the aorta, severe left ventricular dysfunction, and moderate to severe mitral regurgitation. Through median sternotomy, the aortic arch was repaired under cardiopulmonary bypass and regional cerebral perfusion. The patient was postoperatively supported with a left ventricular assist device for five days. Left ventricular function gradually improved, eventually recovering with the concomitant regression of mitral regurgitation. Prompt surgical repair of coarctation of the aorta is indicated for patients with severe left ventricular dysfunction. A central approach for surgical repair with a back-up left ventricular assist device is a safe and effective treatment strategy for these patients.

  1. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease

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    Bhupesh Kumar

    2014-01-01

    Full Text Available Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  2. Pulmonary Hypertension Due to Left Ventricular Cardiomyopathy: Is it the Result or Cause of Disease Progression?

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    Adusumalli, Srinath; Mazurek, Jeremy A

    2017-12-01

    The purpose of this review is to define pulmonary hypertension in the setting of left heart disease (PH-LHD), discuss its epidemiology and pathophysiology, and highlight the cause and effect relationship it has with disease progression in the setting of cardiomyopathy. Both pulmonary hypertension (PH) and heart failure are becoming increasingly common. As such, PH-LHD is now the most common form of PH. The pathophysiology of the condition relates to backward transmission of elevated left ventricular filling pressures into the pulmonary circulation and, ultimately, right ventricular (RV) strain/dysfunction. It is evident that these pathophysiologic processes are both the effect and cause of left heart disease progression. In this review, we describe the complex relationship between disease progression in left ventricular cardiomyopathy and PH-LHD. Clinicians and researchers should take note of the importance of PH-LHD and RV dysfunction to appropriately risk stratify patients and develop therapies for the condition.

  3. Transcatheter aortic valve implantation: emerging role in poor left ventricular function severe aortic stenosis?

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    K. M. John Chan

    2014-01-01

    Full Text Available Transcatheter aortic valve implantation (TAVI has become an established treatment option for high risk elderly patients with symptomatic severe aortic stenosis. Its role in less high risk patients is being evaluated in clinical trials. Patients with severely impaired left ventricular function may be another group who may benefit from this emerging percutaneous treatment option.

  4. 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…

  5. Mitral Annulus Myxoma Extending into Left Atrium and Left Ventricle with Severe Mitral Regurgitation as a Pre-Operative Finding, a Rarity

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    Hamza Abdur Rahim Khan

    2017-06-01

    Full Text Available Cardiac tumors constitute 0.2% of all tumors. Primary cardiac tumors occur infrequently with an incidence of 0.0017-0.19% as shown by autopsies performed in non-selected populations. Among these tumors, cardiac myxomas are most commonly encountered, with left atrial myxomas being more prevalent than right atrial ones. The classic triad of symptoms, of which at least one is present in a patient with atrial myxoma, are obstructive traits including dyspnea and syncope, constitutional symptoms such as fever and anorexia, and thromboembolic events. Surgical resection confers almost definitive treatment with recurrence rates being as low as 3%. A 50-year-old woman referred to the Emergency Unit with a sudden episode of chest heaviness and shortness of breath. There was no significant physical examination finding and all routine lab investigations were normal. She underwent an angiography that revealed tight left anterior descending artery stenosis. An angioplasty was also performed, but she had an episode of presyncope immediately. Then, echocardiogram was performed that showed a large left atrial myxoma causing severe mitral regurgitation. Thus, urgent open heart surgery was planned. The myxoma was identified and excised, the mitral annulus resolved, and normal flow was restored. The patient was then discharged home and followed up for 2 months with no complaints. In the current study, we reported a rare case where mitral regurgitation was caused by a left atrial myxoma. Our report highlighted the diverse clinical spectrum of myxoma and emphasized the need for early echocardiographic diagnosis to aid in identification of myxoma followed by early surgical intervention.

  6. Left ventricular diastolic function is associated with symptom status in severe aortic valve stenosis

    DEFF Research Database (Denmark)

    Dahl, Jordi S; Christensen, Nicolaj L; Videbæk, Lars

    2014-01-01

    atrial volume index, and deceleration time were still associated with the presence of symptoms. CONCLUSIONS: The present study demonstrates that symptomatic status in severe AS is associated with impaired diastolic function, LV hypertrophy, concentric remodeling, and left atrial dilatation when corrected...... function, and left atrial dilatation compared with asymptomatic patients. METHODS AND RESULTS: In a retrospective descriptive study, we compared clinical characteristics and echocardiographic parameters in 99 symptomatic and 139 asymptomatic patients with severe AS and LV ejection fraction ≥50.......001), and had a lower prevalence of hypertension (73% versus 40%; Ptime (199±58 versus...

  7. Apical ballooning syndrome complicated by acute severe mitral regurgitation with left ventricular outflow obstruction – Case report

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    Celermajer David S

    2007-02-01

    sequence of our patient's presentation suggests that the apical ballooning caused geometric alterations in her left ventricle that in turn led to acute and severe mitral regurgitation, systolic anterior motion of the mitral valve and left ventricular outflow tract obstruction. The left ventricular outflow tract obstruction and mitral regurgitation were corrected by mechanical mitral valve replacement. We describe a variant of Takotsubo cardiomyopathy with acute mitral regurgitation, systolic anterior motion of the mitral valve leaflet and left ventricular outflow tract obstruction of a dynamic nature.

  8. 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 ...

  9. Relation of osteoprotegerin in severe aortic valve stenosis to postoperative outcome and left ventricular function

    DEFF Research Database (Denmark)

    Dahl, Jordi S; Videbæk, Lars; Poulsen, Mikael K

    2013-01-01

    Osteoprotegerin (OPG) is a member of the tumor necrosis factor receptor superfamily and is known to be among the mediators of the calcification process that has been shown to increase in patients with aortic stenosis (AS). The aim of this study was to characterize the association of OPG with left......, 41 patients died of a presumed cardiovascular cause or remained in New York Heart Association functional class III or IV. The risk of a poor postoperative outcome after AVR increased with increasing OPG tertiles (15% vs 33% vs 51%, p = 0.002). In a multivariate model containing age, ejection fraction......, N-terminal pro-brain natriuretic peptide and left atrial volume index, OPG was still significantly associated with postoperative outcome. In addition, OPG levels associated with cardiovascular mortality during follow-up. In conclusion, OPG is associated with LV and left atrial remodeling in patients...

  10. Bronchial compression by an enlarged left atrium in infants; a cause of hypovascularity of the left lung

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    Corr, L.; Hallidie-Smith, K.A.; McCarthy, P.A.; Lavender, J.P.

    1988-09-01

    In three infants seen recently at our institution we noted signs of compression of the left main bronchus associated with enlarged left atria. None of our cases demonstrated the more usual signs of hyperinflation which are a hyperlucent lung field, depressed hemidiaphragm and mediastinal shift away from the affected side. In addition, hypoperfusion of the left lung was noted in each case. We believe that bronchial compression due to an enlarged left atrium, with consequent hypoxic vasoconstriction is a clinically significant entity, which is not well described and may be unappreciated in infants in whom the typical signs of hyperinflation are absent.

  11. Management and outcomes in patients with moderate or severe functional mitral regurgitation and severe left ventricular dysfunction

    DEFF Research Database (Denmark)

    Samad, Zainab; Shaw, Linda K; Phelan, Matthew

    2015-01-01

    AIMS: The management and outcomes of patients with functional moderate/severe mitral regurgitation and severe left ventricular (LV) systolic dysfunction are not well defined. We sought to determine the characteristics, management strategies, and outcomes of patients with moderate or severe mitral...... fraction ≤ 30% or LV end-systolic diameter > 55 mm). We examined treatment effects in two ways. (i) A multivariable Cox proportional hazards model was used to assess the independent relationship of different treatment strategies and long-term event (death, LV assist device, or transplant)-free survival...... [hazard ratio (HR) 0.56, 95% confidence interval (CI) 0.42-0.76] and CABG with MV surgery (HR 0.58, 95% CI 0.44-0.78) were associated with long-term, event-free survival benefit. Percutaneous intervention treatment produced a borderline result (HR 0.78, 95% CI 0.61-1.00). However, the relationship...

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

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    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.

  13. 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.

  14. 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.

  15. Mitral Regurgitation Severity and Left Ventricular Systolic Dimension Predict Survival in Young Cavalier King Charles Spaniels

    DEFF Research Database (Denmark)

    Reimann, M. J.; Moller, J. E.; Haggstrom, J.

    2017-01-01

    Background Development and progression of myxomatous mitral valve disease (MMVD) in dogs are difficult to predict. Identification at a young age of dogs at high risk of adverse outcome in the future is desirable. Hypothesis/Objectives To study the predictive value of selected clinical.......016) mortality increased with increasing left ventricular end-systolic internal dimension normalized for body weight (LVIDSN). Conclusions and clinical importance Moderate to severe MR, even if intermittent, and increased LVIDSN in dogs

  16. Survival after aortic valve replacement for severe aortic stenosis with low transvalvular gradients and severe left ventricular dysfunction

    Science.gov (United States)

    Pereira, Jeremy J.; Lauer, Michael S.; Bashir, Mohammad; Afridi, Imran; Blackstone, Eugene H.; Stewart, William J.; McCarthy, Patrick M.; Thomas, James D.; Asher, Craig R.

    2002-01-01

    OBJECTIVE: We sought to assess whether aortic valve replacement (AVR) among patients with severe aortic stenosis (AS), severe left ventricular (LV) dysfunction and a low transvalvular gradient (TVG) is associated with improved survival. BACKGROUND: The optimal management of patients with severe AS with severe LV dysfunction and a low TVG remains controversial. METHODS: Between 1990 and 1998, we evaluated 68 patients who underwent AVR at our institution (AVR group) and 89 patients who did not undergo AVR (control group), with an aortic valve area < or = 0.75 cm(2), LV ejection fraction < or = 35% and mean gradient < or = 30 mm Hg. Using propensity analysis, survival was compared between a cohort of 39 patients in the AVR group and 56 patients in the control group. RESULTS: Despite well-matched baseline characteristics among propensity-matched patients, the one- and four-year survival rates were markedly improved in patients in the AVR group (82% and 78%), as compared with patients in the control group (41% and 15%; p < 0.0001). By multivariable analysis, the main predictor of improved survival was AVR (adjusted risk ratio 0.19, 95% confidence interval 0.09 to 0.39; p < 0.0001). The only other predictors of mortality were age and the serum creatinine level. CONCLUSIONS: Among select patients with severe AS, severe LV dysfunction and a low TVG, AVR was associated with significantly improved survival.

  17. [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.

  18. 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)

  19. [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.

  20. Left ventricular microfistulization: A rare cause of ischemia in a patient with normal coronary arteries

    Directory of Open Access Journals (Sweden)

    İsmet Dindar

    2012-06-01

    Full Text Available A 71-year-old woman with chest pain occurring on physicalexercise was admitted to cardiology department.Myocardial perfusion scintigraphy revealed inferior andanteroapical segment hypoperfusion. Selective coronaryangiography revealed multiple coronary-cameral fistulasoriginating from the left anterior descending artery andthe right coronary artery and emptying into the left ventriclewithout any significant coronary artery stenosis. Coronaryartery fistulas are defined as abnormal communicationsbetween a coronary artery and a cardiac chamber ormajor vessel. Coronary-cameral fistulas terminating in theleft ventricle are uncommon. Small fistulas usually do notcause any hemodynamic compromise. However, the largerand multiple fistulas may cause myocardial ischemiaascribed to a coronary steal phenomenon. The best wayto manage cameral fistulae is uncertain largely due to therarity of the condition. In the present case, anti-ischemicmedications with metoprolol 50 mg/day provided an uneventfulfollow-up of six months without any intervention.

  1. Dipyridamole-thallium tests are predictive of severe cardiac arrhythmias in patients with left ventricular hypertrophy

    International Nuclear Information System (INIS)

    Saragoca, M.A.; Canziani, M.E.; Gil, M.A.; Castiglioni, M.L.; Cassiolato, J.L.; Barbieri, A.; Lima, V.C.; Draibe, S.A.; Martinez, E.E.

    1991-01-01

    In a population of patients with chronic renal failure (CRF) and a high prevalence of left ventricular hypertrophy (LVH) undergoing chronic hemodialysis, the authors investigated the association between the results of dipyridamole-thallium tests (DTTs) and the occurrence of ventricular arrhythmias. They observed a positive significant association between positive DTTs and the occurrence of severe forms of ventricular arrhythmias. A significant association was also observed between the presence of severe LVH and the occurrence of severe ventricular arrhythmias. However, no association was found between the presence of LVH and the positivity of the DTT. As most of their patients with positive DTTs had unimpaired coronary circulations, they conclude that positive DTTs, although falsely indicative of impaired myocardial blood supply, does have an important clinical relevance, indicating increased risk of morbidity (and, possibly, mortality) due to ventricular arrhythmias in a population of CRF patients submitted to chronic renal function replacement program

  2. Surgical outcome of severe pulmonary arterial hypertension secondary to left-to-right shunt lesions

    Directory of Open Access Journals (Sweden)

    Cha Gon Lee

    2010-02-01

    Full Text Available Purpose : Despite recent advances in pulmonary hypertension management and surgery, appropriate guidelines remain to be developed for operability in congenital heart disease with pulmonary artery hypertension (PAH. Our aim was to evaluate clinical outcomes of patients with severe PAH who underwent surgical closure of left-to-right shunt lesions (LRSL on the basis of pulmonary reactivity. Methods : We retrospectively reviewed 21 patients who underwent surgical closure of LRSL with severe PAH (?#248; Wood unit from January 1995 to April 2009. The median age at operation was 26 years. Atrial septal defect, ventricular septal defect (VSD, VSD and patent ductus arteriosus (PDA, and PDA was present in 11, 4, 4, and 2 patients, respectively. Results : Operability was based on vasoreactivity of PAH. Of the 21 patients, 5 showed response to pulmonary vasodilator therapy and 8 showed vasoreactivity after balloon occlusion of defects. The remaining 8 patients were considered operable because of significant left-to-right shunt (Qp/Qs ?#241;.5. Five patients underwent total closure of defects and 16 were left with small residual shunts. The median follow-up duration was 32 months. There was no significant postoperative mortality or morbidity. Systolic pulmonary artery pressure (PAP decreased in all but 2 patients. All patients except 1 showed improvement of New York Heart Association functional class. Conclusion : Closure of LRSL in patients with severe PAH on the basis of pulmonary vasoreactivity seems reasonable. PAP and clinical symptoms improved in most patients. Further research is needed for the evaluation of long-term results.

  3. Outcomes After Orbital Atherectomy of Severely Calcified Left Main Lesions: Analysis of the ORBIT II Study.

    Science.gov (United States)

    Lee, Michael S; Shlofmitz, Evan; Shlofmitz, Richard; Sahni, Sheila; Martinsen, Brad; Chambers, Jeffrey

    2016-09-01

    The ORBIT II trial reported excellent outcomes in patients with severely calcified coronary lesions treated with orbital atherectomy. Severe calcification of the left main (LM) artery represents a complex coronary lesion subset. This study evaluated the safety and efficacy of coronary orbital atherectomy to prepare severely calcified protected LM artery lesions for stent placement. The ORBIT II trial was a prospective, multicenter clinical trial that enrolled 443 patients with severely calcified coronary lesions in the United States. The major adverse cardiac event (MACE) rate through 2 years post procedure, defined by cardiac death, myocardial infarction (CK-MB >3x upper limit of normal with or without a new pathologic Q-wave) and target-vessel revascularization, was compared in the LM and non-left main (NLM) groups. Among the 443 patients, a total of 10 underwent orbital atherectomy of protected LM artery lesions. At 2 years, there was no significant difference in the 2-year MACE rate in the LM and NLM groups (30.0% vs 19.1%, respectively; P=.36). Cardiac death was low in both groups (0% vs 4.4%, respectively; P=.99). Myocardial infarction occurred within 30 days in both groups (10.0% vs 9.7%, respectively; P=.99). Severe dissection, perforation, persistent slow flow, and persistent no reflow did not occur in the LM group. Abrupt closure occurred in 1 patient in the LM group. Orbital atherectomy for patients with heavily calcified LM coronary artery lesions is safe and feasible. Further studies are needed to assess the safety and efficacy of orbital atherectomy in patients with severely calcified LM artery lesions.

  4. Double Chamber Left Ventricle Associated With Severe Form of the Hypertrophic Cardiomyopathy and High Left Intracavitary Pressure

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

    2013-01-01

    Double-chambered left ventricle (DCLV) is a rare congenital anomaly, and only a few cases have been reported in the literature, in which a 2-chambered LV is separated by the interventricular septum or an abnormal muscle bundle.We report a case of a girl who was presented at tertiary level for cardiological examination where, during the routine examination systolic murmur was registered. After echocardiographical examination DCLV was confirmed. Anomaly was associated with idiopathic hypertroph...

  5. Secondary left ventricular injury with haemopericardium caused by a rib fracture after blunt chest trauma

    Directory of Open Access Journals (Sweden)

    Somsekhar Ganti

    2006-03-01

    Full Text Available Abstract Trauma is the third most common cause of death in the West. In the US, approximately 90,000 deaths annually are traumatic in nature and over 75% of casualties from blunt trauma are due to chest injuries. Cardiac injuries from rib fractures following blunt trauma are extremely rare. We report the unusual case of a patient who fell from a height and presented with haemopericardium and haemothorax as a result of left ventricular and lingular lacerations and was sucessfully operated upon.

  6. Severity and Co-occurrence of Oral and Verbal Apraxias in Left Brain Damaged Adults

    Directory of Open Access Journals (Sweden)

    Fariba Yadegari

    2012-04-01

    Full Text Available Objective: Oral and verbal apraxias represent motor programming deficits of nonverbal and verbal movements respectively. Studying their properties may shed light on speech motor control processes. This study was focused on identifying cases with oral or verbal apraxia, their co–occurrences and severities. Materials & Methods: In this non-experimental study, 55 left adult subjects with left brain lesion including 22 women and 33 men with age range of 23 to 84 years, were examined and videotaped using oral apraxia and verbal apraxia tasks. Three speech and language pathologists independently scored apraxia severities. Data were analyzed by independent t test, Pearson, Phi and Contingency coefficients using SPSS 12. Results: Mean score of oral and verbal apraxias in patients with and without oral and verbal apraxias were significantly different (P<0.001. Forty- two patients had simultaneous oral and verbal apraxias, with significant correlation between their oral and verbal apraxia scores (r=0.75, P<0.001. Six patients showed no oral or verbal apraxia and 7 had just one type of apraxia. Comparison of co-occurrence of two disorders (Phi=0.59 and different oral and verbal intensities (C=0.68 were relatively high (P<0.001. Conclusion: The present research revealed co-occurrence of oral and verbal apraxias to a great extent. It appears that speech motor control is influenced by a more general verbal and nonverbal motor control.

  7. Simultaneous Left Ventricular and Deep Vein Thrombi Caused by Protein C Deficiency

    Directory of Open Access Journals (Sweden)

    Harufumi Maki

    2017-01-01

    Full Text Available Protein C deficiency is a risk of venous thrombosis because of poor fibrinolytic activity. It remains controversial whether protein C deficiency causes arterial thrombosis. A 21-year-old woman was referred with a chief complaint of right leg pain and numbness. Contrast-enhanced computed tomography revealed a low-density mass in the left ventricle (LV, splenic infarction, and peripheral arterial obstructions in her right leg. Thrombosis extending from the renal vein to the inferior vena cava was also detected. Electrocardiography revealed ST depression in leads II, III, and aVF. Transthoracic echocardiography revealed hypokinesis of the apex and interventricular septum and a hypoechoic mass in the LV (26 × 20 mm. She was diagnosed with acute arterial obstruction caused by the LV thrombus, which might have resulted from previous myocardial infarction. Protein C activation turned out to be low (41% 5 days after admission. The anticoagulant therapy was switched from heparin to rivaroxaban 16 days after admission. The LV thrombus disappeared 24 days after initial treatment, and she has had no thrombotic episodes for 2.8 years under rivaroxaban therapy. Thrombophilia should be investigated for cases of simultaneous left ventricular and deep venous thrombi. Rivaroxaban can be effective in prevention of further thrombotic events.

  8. 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.

  9. Exploratory assessment of left ventricular strain–volume loops in severe aortic valve diseases

    Science.gov (United States)

    Hulshof, Hugo G.; van Dijk, Arie P.; George, Keith P.; Hopman, Maria T. E.; Thijssen, Dick H. J.

    2017-01-01

    Key points Severe aortic valve diseases are common cardiac abnormalities that are associated with poor long‐term survival.Before any reduction in left ventricular (LV) function, the left ventricle undergoes structural remodelling under the influence of changing haemodynamic conditions.In this study, we combined temporal changes in LV structure (volume) with alterations in LV functional characteristics (strain, ԑ) into a ԑ–volume loop, in order to provide novel insight into the haemodynamic cardiac consequences of aortic valve diseases in those with preserved LV ejection fraction.We showed that our novel ԑ–volume loop and the specific loop characteristics provide additional insight into the functional and mechanical haemodynamic consequences of severe aortic valve diseases (with preserved LV ejection fraction).Finally, we showed that the ԑ–volume loop characteristics provide discriminative capacity compared with conventional measures of LV function. Abstract The purpose of this study was to examine left ventricular (LV) strain (ԑ)–volume loops to provide novel insight into the haemodynamic cardiac consequences of aortic valve stenosis (AS) and aortic valve regurgitation (AR). Twenty‐seven participants were retrospectively recruited: AR (n = 7), AS (n = 10) and control subjects (n = 10). Standard transthoracic echocardiography was used to obtain apical four‐chamber images to construct ԑ–volume relationships, which were assessed using the following parameters: early systolic ԑ (ԑ_ES); slope of ԑ–volume relationship during systole (Sslope); end‐systolic peak ԑ (peak ԑ); and diastolic uncoupling (systolic ԑ–diastolic ԑ at same volume) during early diastole (UNCOUP_ED) and late diastole (UNCOUP_LD). Receiver operating characteristic curves were used to determine the ability to detect impaired LV function. Although LV ejection fraction was comparable between groups, longitudinal peak ԑ was reduced compared with control subjects

  10. Exploratory assessment of left ventricular strain-volume loops in severe aortic valve diseases.

    Science.gov (United States)

    Hulshof, Hugo G; van Dijk, Arie P; George, Keith P; Hopman, Maria T E; Thijssen, Dick H J; Oxborough, David L

    2017-06-15

    Severe aortic valve diseases are common cardiac abnormalities that are associated with poor long-term survival. Before any reduction in left ventricular (LV) function, the left ventricle undergoes structural remodelling under the influence of changing haemodynamic conditions. In this study, we combined temporal changes in LV structure (volume) with alterations in LV functional characteristics (strain, ԑ) into a ԑ-volume loop, in order to provide novel insight into the haemodynamic cardiac consequences of aortic valve diseases in those with preserved LV ejection fraction. We showed that our novel ԑ-volume loop and the specific loop characteristics provide additional insight into the functional and mechanical haemodynamic consequences of severe aortic valve diseases (with preserved LV ejection fraction). Finally, we showed that the ԑ-volume loop characteristics provide discriminative capacity compared with conventional measures of LV function. The purpose of this study was to examine left ventricular (LV) strain (ԑ)-volume loops to provide novel insight into the haemodynamic cardiac consequences of aortic valve stenosis (AS) and aortic valve regurgitation (AR). Twenty-seven participants were retrospectively recruited: AR (n = 7), AS (n = 10) and control subjects (n = 10). Standard transthoracic echocardiography was used to obtain apical four-chamber images to construct ԑ-volume relationships, which were assessed using the following parameters: early systolic ԑ (ԑ_ES); slope of ԑ-volume relationship during systole (Sslope); end-systolic peak ԑ (peak ԑ); and diastolic uncoupling (systolic ԑ-diastolic ԑ at same volume) during early diastole (UNCOUP_ED) and late diastole (UNCOUP_LD). Receiver operating characteristic curves were used to determine the ability to detect impaired LV function. Although LV ejection fraction was comparable between groups, longitudinal peak ԑ was reduced compared with control subjects. In contrast, ԑ_ES and Sslope were

  11. Left frontal meningioangiomatosis associated with type IIIc focal cortical dysplasia causing refractory epilepsy and literature review.

    Science.gov (United States)

    Roux, Alexandre; Mellerio, Charles; Lechapt-Zalcman, Emmanuelle; Still, Megan; Zerah, Michel; Bourgeois, Marie; Pallud, Johan

    2018-03-29

    We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangiomatosis associated with a type IIIc focal cortical dysplasia located in the left supplementary motor area in a young male patient. A first anatomical-based partial surgical resection was performed at 11 years old under general anaesthesia without intraoperative mapping, which allowed for postoperative seizure control (Engel IA) for six years. The patient then presented with intractable right sensatory and aphasic focal onset seizures despite two appropriate antiepileptic drugs. A second functional-based surgical resection was performed using intraoperative cortico-subcortical functional mapping with direct electrical stimulation under awake conditions. A complete surgical resection was performed and a left partial supplementary motor area syndrome was observed. At six postoperative months, the patient is seizure free (Engel IA) with an ongoing decrease in antiepileptic drug therapy. Intraoperative functional brain mapping can be applied to preserve the brain function and networks around a meningioangiomatosis to facilitate the resection of potentially epileptogenic perilesional dysplastic cortex and to tailor the extent of resection to functional boundaries. Copyright © 2018. Published by Elsevier Inc.

  12. Asymmetric inhibition of Ulk2 causes left-right differences in habenular neuropil formation.

    Science.gov (United States)

    Taylor, Robert W; Qi, Jenny Y; Talaga, Anna K; Ma, Taylur P; Pan, Luyuan; Bartholomew, Clinton R; Klionsky, Daniel J; Moens, Cecilia B; Gamse, Joshua T

    2011-07-06

    Studies of the zebrafish epithalamus have provided recent insights into the development of left-right brain asymmetry, which is crucial to normal human brain function. The habenular nuclei of zebrafish are robustly asymmetric, with dense elaboration of neuropil only in the left lateral subnucleus. Because this feature is tightly correlated with asymmetric expression of K(+) channel tetramerization domain-containing proteins 12.1 and 12.2 (Kctd12.1/12.2), we screened for Kctd12.1-interacting proteins to identify molecular mechanisms leading to neuropil asymmetry, and uncovered a novel interaction between Kctd12.1 and Unc-51-like kinase 2 (Ulk2). We show here that knockdown of Ulk2 or overexpression of Kctd12 proteins reduces asymmetric neuropil elaboration. Conversely, overexpression of Ulk2 or mutation of kctd12 genes causes excess neuropil elaboration. We conclude that Ulk2 activity promotes neuropil elaboration while Kctd12 proteins limit Ulk2 activity asymmetrically. This work describes a regulatory mechanism for neuronal process extension that may be conserved in other developmental contexts in addition to the epithalamus.

  13. Effect of Renin-Angiotensin Blockers on Left Ventricular Remodeling in Severe Aortic Stenosis.

    Science.gov (United States)

    Goh, Serene Si-Ning; Sia, Ching-Hui; Ngiam, Nicholas Jinghao; Tan, Benjamin Yong-Qiang; Lee, Poay Sian; Tay, Edgar Lik-Wui; Kong, William Kok-Fai; Yeo, Tiong Cheng; Poh, Kian-Keong

    2017-06-01

    Studies have shown that medical therapy with renin-angiotensin blockers (RABs) may benefit patients with aortic stenosis (AS). However, its use and efficacy remains controversial, including in patients with low flow (LF) with preserved left ventricular ejection fraction (LVEF). We examined the effects of RAB use on LV remodeling in patients with severe AS with preserved LVEF, analyzing the differential effects in patients with LF compared with normal flow (NF). This is a retrospective study of 428 consecutive subjects from 2005 to 2014 with echocardiographic diagnosis of severe AS and preserved LVEF. Clinical and echocardiographic parameters were systematically collected and analyzed. Two hundred forty-two (57%) patients had LF. Sixty-four LF patients (26%) were treated with RAB. Patients on RAB treatment had a higher incidence of hyperlipidemia (69% vs 44%) and diabetes mellitus (53% vs 34%). Severity of AS in terms of valve area, transvalvular mean pressure gradient, and aortic valve resistance were similar between both groups as was the degree of LV diastolic function. The RAB group demonstrated significantly lower LV mass index with a correspondingly lower incidence of concentric LV hypertrophy. Regardless of the duration of RAB therapy, patients had increased odds of having a preserved LV mass index compared with those without RAB therapy. In conclusion, RAB therapy may be associated with less LV pathological remodeling and have a role in delaying patients from developing cardiovascular complications of AS. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. 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.

  15. [Deficit of verbal recall caused by left dorso-lateral thalamic infarction].

    Science.gov (United States)

    Rousseaux, M; Cabaret, M; Benaim, C; Steinling, M

    1995-01-01

    A case of amnesia with preferential disorder of verbal recall, associated to a limited infarct of the left superior, external and anterior thalamus, is reported. This lesion involved the anterior and middle dorso-lateral nuclei and the centrolateral nucleus, sparing most of the structures classically incriminated in diencephalic amnesia. At the initial stage, the patient presented discrete language impairment and severe deficit of semantic processing, which later recovered. At the late stage, the anterograde and retrograde amnesia principally concerned the recall of verbal information used in daily life, verbal learning using short-term and long-term recall, questionnaires evaluating retrograde memory and requiring the evocation of proper names. Verbal priming was also affected. Verbal recognition was preserved. Evocation of the most recent events of the personal life was also impaired. Confrontation of this case with others previously reported suggests that various thalamic amnesias may be described, associated to different cognitive deficits, in relation with the preferential situation of lesions.

  16. Management of severe ischemic cardiomyopathy: left ventricular assist device as destination therapy versus conventional bypass and mitral valve surgery.

    Science.gov (United States)

    Maltais, Simon; Tchantchaleishvili, Vahtang; Schaff, Hartzell V; Daly, Richard C; Suri, Rakesh M; Dearani, Joseph A; Topilsky, Yan; Stulak, John M; Joyce, Lyle D; Park, Soon J

    2014-04-01

    Patients with severe ischemic cardiomyopathy (left ventricular ejection fraction assist device as destination therapy is reserved for patients who are too high risk for conventional surgery. We evaluated our outcomes with conventional surgery within this population and the comparative effectiveness of these 2 therapies. We identified patients who underwent conventional surgery or left ventricular assist device as destination therapy for severe ischemic cardiomyopathy (left ventricular ejection fraction assist device as destination therapy. We compared baseline patient characteristics and outcomes in terms of end-organ function and survival. A total of 88 patients were identified; 55 patients underwent conventional surgery (63%), and 33 patients (37%) received a left ventricular assist device as destination therapy. Patients who received left ventricular assist device as destination therapy had the increased prevalence of renal failure, inotrope dependency, and intra-aortic balloon support. Patients undergoing conventional surgery required longer ventilatory support, and patients receiving a left ventricular assist device required more reoperation for bleeding. Mortality rates were similar between the 2 groups at 30 days (7% in the conventional surgery group vs 3% in the left ventricular assist device as destination therapy group, P = .65) and at 1 year (22% in the conventional surgery group vs 15% in the left ventricular assist device as destination therapy group, P = .58). There was a trend toward improved survival in patients receiving a left ventricular assist device compared with the propensity-matched groups at 1 year (94% vs 71%, P = .171). The operative mortality and early survival after conventional surgery seem to be acceptable. For inoperable or prohibitive-risk patients, left ventricular assist device as destination therapy can be offered with similar outcomes. Copyright © 2014 The American Association for Thoracic Surgery. Published by Mosby

  17. Catheter-based intervention for symptomatic patient with severe mitral regurgitation and very poor left ventricular systolic function

    DEFF Research Database (Denmark)

    Loh, Poay Huan; Bourantas, Christos V; Chan, Pak Hei

    2015-01-01

    Many patients with left ventricular systolic dysfunction have concomitant mitral regurgitation (MR). Their symptoms and prognosis worsen with increasing severity of MR. Percutaneous MitraClip(®) can be used safely to reduce the severity of MR even in patients with advanced heart failure and is as...

  18. Exercise-induced changes in left ventricular global longitudinal strain in asymptomatic severe aortic stenosis.

    Science.gov (United States)

    Lech, Agnieszka K; Dobrowolski, Piotr P; Klisiewicz, Anna; Hoffman, Piotr

    2017-01-01

    The management of patients with asymptomatic severe aortic stenosis (ASAS) is still under discussion. Therefore, it is advisable to search for the parameters of early damage to left ventricular (LV) function. The aim of the study was to assess exercise-induced changes in LV global longitudinal strain (GLS) in ASAS. The ASAS group consisted of 50 patients (26 women and 24 men, aged 38.4 ± 18.1 years) meeting the echocardiographic criteria of severe aortic stenosis (AVA 4 m/s, mean aortic gradient > 40 mm Hg), with normal LV ejection fraction (LVEF ≥ 55%) and sinus rhythm on electrocardiogram, and without significant concomitant valvular heart diseases. The control group consisted of 21 people matched for age and sex. Echocardiographic examinations and echocardiographic stress tests with the assessment of GLS using the speckle tracking imaging were performed. The ASAS group was characterised by statistically significantly higher LV mass index (LVMI) and higher LVEF. GLS values at rest in both groups were within normal limits but were significantly higher in the control group (-18.9 ± 2.4% vs. -20.7 ± 1.7%, p = 0.006). An increase in GLS at peak exercise in both groups was observed, lower in the ASAS group (the difference was not statistically significant: -0.8 ± 3.0% vs. -2.2 ± 3.1%, p = 0.086). Changes in GLS during exercise (ΔGLS) did not correlate with the parameters of the severity of aortic stenosis. In the multivariate model, LVMI proved to be a factor associated with GLS at rest and during exercise. In patients with ASAS, GLS is a non-invasive marker of an early stage of LV myocardial damage associated with myocardial hypertrophy. An increase in GLS during exercise in the ASAS group, smaller than in the control group, indicates a preserved functional reserve of the LV myocardium but smaller than in healthy individuals. The assessment of the clinical usefulness of exercise-induced changes in GLS requires further research.

  19. [Rare cause of heart failure in an elderly woman in Djibouti: left ventricular non compaction].

    Science.gov (United States)

    Massoure, P L; Lamblin, G; Bertani, A; Eve, O; Kaiser, E

    2011-10-01

    The purpose of this report is to describe the first case of left ventricular non compaction diagnosed in Djibouti. The patient was a 74-year-old Djiboutian woman with symptomatic heart failure. Echocardiography is the key tool for assessment of left ventricular non compaction. This rare cardiomyopathy is probably underdiagnosed in Africa.

  20. [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.

  1. The causes, consequences, and treatment of left or right heart failure

    Directory of Open Access Journals (Sweden)

    Peteiro J

    2011-04-01

    Full Text Available Pablo Pazos-López, Jesús Peteiro-Vázquez, Ana Carcía-Campos, Lourdes García-Bueno, Juan Pablo Abugattas de Torres, Alfonso Castro-BeirasDepartment of Cardiology, Complejo hospitalario Universitario A Coruña, A Coruña, SpainAbstract: Chronic heart failure (HF is a cardiovascular disease of cardinal importance because of several factors: a an increasing occurrence due to the aging of the population, primary and secondary prevention of cardiovascular events, and modern advances in therapy, b a bad prognosis: around 65% of patients are dead within 5 years of diagnosis, c a high economic cost: HF accounts for 1% to 2% of total health care expenditure. This review focuses on the main causes, consequences in terms of morbidity, mortality and costs and treatment of HF.Keywords: heart failure, cause, consequence, treatment

  2. 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.

  3. Early regression of severe left ventricular hypertrophy after transcatheter aortic valve replacement is associated with decreased hospitalizations.

    Science.gov (United States)

    Lindman, Brian R; Stewart, William J; Pibarot, Philippe; Hahn, Rebecca T; Otto, Catherine M; Xu, Ke; Devereux, Richard B; Weissman, Neil J; Enriquez-Sarano, Maurice; Szeto, Wilson Y; Makkar, Raj; Miller, D Craig; Lerakis, Stamatios; Kapadia, Samir; Bowers, Bruce; Greason, Kevin L; McAndrew, Thomas C; Lei, Yang; Leon, Martin B; Douglas, Pamela S

    2014-06-01

    This study sought to examine the relationship between left ventricular mass (LVM) regression and clinical outcomes after transcatheter aortic valve replacement (TAVR). LVM regression after valve replacement for aortic stenosis is assumed to be a favorable effect of LV unloading, but its relationship to improved clinical outcomes is unclear. Of 2,115 patients with symptomatic aortic stenosis at high surgical risk receiving TAVR in the PARTNER (Placement of Aortic Transcatheter Valves) randomized trial or continued access registry, 690 had both severe LV hypertrophy (left ventricular mass index [LVMi] ≥ 149 g/m(2) men, ≥ 122 g/m(2) women) at baseline and an LVMi measurement at 30-day post-TAVR follow-up. Clinical outcomes were compared for patients with greater than versus lesser than median percentage change in LVMi between baseline and 30 days using Cox proportional hazard models to evaluate event rates from 30 to 365 days. Compared with patients with lesser regression, patients with greater LVMi regression had a similar rate of all-cause mortality (14.1% vs. 14.3%, p = 0.99), but a lower rate of rehospitalization (9.5% vs. 18.5%, hazard ratio [HR]: 0.50, 95% confidence interval [CI]: 0.32 to 0.78; p = 0.002) and a lower rate of rehospitalization specifically for heart failure (7.3% vs. 13.6%, p = 0.01). The association with a lower rate of rehospitalization was consistent across subgroups and remained significant after multivariable adjustment (HR: 0.53, 95% CI: 0.34 to 0.84; p = 0.007). Patients with greater LVMi regression had lower B-type natriuretic peptide (p = 0.002) and a trend toward better quality of life (p = 0.06) at 1-year follow-up than did those with lesser regression. In high-risk patients with severe aortic stenosis and severe LV hypertrophy undergoing TAVR, those with greater early LVM regression had one-half the rate of rehospitalization over the subsequent year compared to those with lesser regression. Copyright © 2014 American College of

  4. [Multiple coronary fistulas to the left ventricle. An unusual cause of myocardial ischemia].

    Science.gov (United States)

    Piovaccari, G; Melandri, G; Marzocchi, A; Scarfoglio, D; Sanguinetti, M; Magnani, B

    1989-04-01

    Diffuse communications between the left coronary artery and the left ventricular cavity were found in a 54-years-old man presenting with angina pectoris and reversible ischemia documented on stress Thallium scintigraphy. During atrial pacing the patient experienced chest pain which was accompanied by lactate production. Atenolol, but not nifedipine, did ameliorate the symptoms. The anatomical types and the embriogenesis of coronary microfistulas along with possible mechanisms of ischemia are discussed.

  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. 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...

  7. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    Directory of Open Access Journals (Sweden)

    Mohammad K. Eldomery

    2016-11-01

    Full Text Available Abstract Background Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. Methods Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC, developmental delay (DD, seizures, and severe hypotonia. Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. Functional analysis of the identified MIP variants was performed using the model organism Saccharomyces cerevisiae as the protein and its functions are highly conserved from yeast to human. Results Biallelic single nucleotide variants (SNVs or copy number variants (CNVs in MIPEP, which encodes MIP, were present in all four probands, three of whom had infantile/childhood death. Two patients had compound heterozygous SNVs (p.L582R/p.L71Q and p.E602*/p.L306F and one patient from a consanguineous family had a homozygous SNV (p.K343E. The fourth patient, identified through the GeneMatcher tool, a part of the Matchmaker Exchange Project, was found to have inherited a paternal SNV (p.H512D and a maternal CNV (1.4-Mb deletion of 13q12.12 that includes MIPEP. All amino acids affected in the patients’ missense variants are highly conserved from yeast to human and therefore S. cerevisiae was employed for functional analysis (for p.L71Q, p.L306F, and p.K343E. The mutations p.L339F (human p.L306F and p.K376E (human p.K343E resulted in a severe decrease of Oct1 protease activity and accumulation of non-processed Oct1 substrates and consequently impaired viability under respiratory growth conditions. The p.L83Q (human p.L71Q failed to localize to the mitochondria. Conclusions Our findings reveal for the first

  8. 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.

  9. 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)

  10. A servo-controlled canine model of stable severe ischemic left ventricular failure.

    Science.gov (United States)

    Wagner, Richard L; Hood, William B; Howland, Peter A

    2009-12-01

    Reversible left ventricular failure was produced in conscious dogs by compromise of the coronary circulation. In animals with prior left anterior descending coronary artery occlusion, mean left atrial pressure (LAP) was incorporated into an automatic feedback control system used to inflate a balloon cuff on the circumflex (Cfx) coronary artery. The system could produce stable increases in LAP to 15-20 mm Hg. The dominating system transfer function was the ratio of LAP to balloon volume (BV), which was characterized by a fixed delay (5 s), with LAP/BV = (8e(-jomegatau ))/(0.02 + jomega). The system was stabilized by a phase lead network to reduce oscillations of LAP. A total of seven experiments were conducted in three dogs, and testing of inotropic agents was possible in three experiments under stable conditions with the pump off after an hour or more of operation. Problems encountered were 0.003-0.008 Hz oscillations in LAP in three experiments, which could usually be controlled by reducing the system gain. Late stage ventricular fibrillation occurred in all three animals, but defibrillation was easily accomplished after deflating the Cfx balloon. This system produces reversible left ventricular failure solely due to ischemia, thus closely simulating clinical heart failure due to coronary insufficiency.

  11. 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.

  12. Severe reversible dilated cardiomyopathy associated with a large left ventricular thrombus in a young child with middle aortic syndrome

    OpenAIRE

    Ponniah, U; Overholt, E

    2014-01-01

    this article reports a case of a seven-year girl who presented with severe dilated cardiomyopathy (DCM) associated with a large thrombus in the left ventricle (LV). She had a long segment stenosis of the lower thoracic descending aorta, possibly due to non-specific aortitis and underwent successful stent angioplasty. The LV thrombus resolved after heparin without sequelae.

  13. 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.

  14. 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.

  15. Abolished ventilation and perfusion of lung caused by blood clot in the left main bronchus

    DEFF Research Database (Denmark)

    Afzelius, P; Bergmann, A; Henriksen, J H

    2015-01-01

    /Q) scintigraphy with single-photon emission CT (SPECT)/CT. V/Q SPECT/CT demonstrated abolished ventilation due to obstruction of the left main bronchus and markedly reduced perfusion of the entire left lung, a condition that was completely reversed after removal of a blood clot. We present the first pictorially......It is generally assumed that the lungs possess arterial autoregulation associated with bronchial obstruction. A patient with pneumonia and congestive heart failure unexpectedly developed frequent haemoptysis. High-resolution CT and diagnostic CT were performed as well as ventilation/perfusion (V...

  16. Edward’s syndrome: A rare cause of difficult intubation-utility of left molar approach

    Directory of Open Access Journals (Sweden)

    Teena Bansal

    2016-04-01

    Full Text Available Edward’s syndrome (trisomy 18 is an autosomal abnormality with dysmorphic face, visceral deformities and delayed mental and motor development including congenital heart disease. Challenges may arise during mask ventilation, laryngoscopy and/or intubation of the trachea due to dysmorphic face. Difficult airway cart should be kept ready. Left molar approach using a standard Macintosh blade improves the laryngoscopic view in patients with difficult midline laryngoscopy. We hereby present a case report of a 2 year old male child with Edward’s syndrome posted for evacuation and drainage of brain abscess, intubated successfully using left molar approach.

  17. Rupture of the right upper pulmonary vein and left atrium caused by blunt chest trauma.

    Science.gov (United States)

    Osaka, Motoo; Nagai, Ryo; Koishizawa, Tadashi

    2017-11-01

    A 49-year-old man was transferred to our hospital by ambulance due to blunt chest trauma sustained in a car accident. Echocardiography and enhanced computed tomography showed hemopericardium without other vital organ damage. Emergent surgery was performed under strong suspicion of traumatic cardiac rupture. Careful inspection showed a rupture of the right upper pulmonary vein at the junction of the left atrium, a laceration of the inferior vena cava, and a left-side pericardium rupture, and they were repaired with running 4-0 polypropylene suture. Postoperative hemodynamics were stable. The patient was discharged ambulatory on postoperative day 15.

  18. The regional neuronal activity in left posterior middle temporal gyrus is correlated with the severity of chronic aphasia.

    Science.gov (United States)

    Li, Jianlin; Du, Dunren; Gao, Wei; Sun, Xichun; Xie, Haizhu; Zhang, Gang; Li, Jian; Li, Honglun; Li, Kefeng

    2017-01-01

    Aphasia is one of the most disabling cognitive deficits affecting >2 million people in the USA. The neuroimaging characteristics of chronic aphasic patients (>6 months post onset) remain largely unknown. The objective of this study was to investigate the regional signal changes of spontaneous neuronal activity of brain and the inter-regional connectivity in chronic aphasia. Resting-state blood oxygenation level-dependent functional magnetic resonance imaging (fMRI) was used to obtain fMRI data from 17 chronic aphasic patients and 20 healthy control subjects in a Siemens Verio 3.0T MR Scanner. The amplitude of low-frequency fluctuation (ALFF) was determined, which directly reflects the regional neuronal activity. The functional connectivity (FC) of fMRI was assessed using a seed voxel linear correlation approach. The severity of aphasia was evaluated by aphasia quotient (AQ) scores obtained from Western Aphasia Battery test. Compared with normal subjects, aphasic patients showed decreased ALFF values in the regions of left posterior middle temporal gyrus (PMTG), left medial prefrontal gyrus, and right cerebellum. The ALFF values in left PMTG showed strong positive correlation with the AQ score (coefficient r =0.79, P temporal gyrus (BA20), fusiform gyrus (BA37), and inferior frontal gyrus (BA47\\45\\44). Left PMTG might play an important role in language dysfunction of chronic aphasia, and ALFF value might be a promising indicator to evaluate the severity of aphasia.

  19. A conservative approach to a thoracic duct injury caused by left subclavian vein catheterization

    Directory of Open Access Journals (Sweden)

    Vedran Premuzic

    2018-01-01

    Full Text Available Thoracic duct injury is a rare complication of left subclavian vein catheterization. A significant injury could lead to chylothorax, a condition with high mortality rate if not treated. It is diagnosed with lymphography or by laboratory tests of pleural fluid aspirate. A 51 year old Caucasian male with a history of unregulated hypertension presented to our Emergency department (ED with anginous symptoms and increased serum creatinine level. After the placement of a temporary central venous catheter for hemodialysis in left subclavian vein, he developed lymph leakage on puncture site beside the catheter, at drainage rate of 75 ml/h. In the absence of more serious clinical symptoms, conservative treatment with close patient monitoring and diet changes was chosen, rather than more invasive treatment options.

  20. Right-to-left shunts may be not uncommon cause of TIA in Japan.

    OpenAIRE

    Tateishi, Yohei; Iguchi, Yasuyuki; Kimura, Kazumi; Kobayashi, Kazuto; Shibazaki, Kensaku; Eguchi, Katsumi

    2009-01-01

    BACKGROUND AND PURPOSE: Although 30% to 60% of transient ischemic attacks (TIAs) have embolic sources, the etiology of the remaining TIAs is unknown. Right-to-left shunt (RLS) is one of the most important etiologies of cryptogenic stroke. The aim of this study was to determine whether RLS is related to transient ischemic attack (TIA) of unknown etiology. METHODS: We performed transesophageal echocardiography (TEE) and/or transcranial Doppler (TCD) studies for consecutive TIA patients in order...

  1. Left atrial leiomyosarcoma as cause of heart failure; Leiomiosarcoma atrial izquierdo como causa de insuficiencia cardiaca

    Energy Technology Data Exchange (ETDEWEB)

    Valdes Martin, Alexander [Instituto de Cardiologia y Cirugia Cardiovascular, La Habana (Cuba)

    2012-07-01

    The case of a 26 year-old patient with diagnosis of heart failure and presence of a mobile echogenic mass without calcification attached to the posterolateral area of the left atrium was reported. She underwent surgery and tissue examination evidenced a high-grade heart leiomyosarcoma. Postoperative course was satisfactory and her clinical state was rigorously monitored by oncology and heart specialists in the institution.

  2. A conservative approach to a thoracic duct injury caused by left subclavian vein catheterization

    OpenAIRE

    Vedran Premuzic; Ranko Smiljanic; Drazen Perkov

    2018-01-01

    Thoracic duct injury is a rare complication of left subclavian vein catheterization. A significant injury could lead to chylothorax, a condition with high mortality rate if not treated. It is diagnosed with lymphography or by laboratory tests of pleural fluid aspirate. A 51 year old Caucasian male with a history of unregulated hypertension presented to our Emergency department (ED) with anginous symptoms and increased serum creatinine level. After the placement of a temporary central venous c...

  3. Left atrium and pulmonary artery compression due to aortic aneurysm causing heart failure symptoms.

    Science.gov (United States)

    Jorge, Antonio José Lagoeiro; Martins, Wolney de Andrade; Moutinho, Victor M; Rezende, Juliano M; Alves, Patricia Y; Villacorta, Humberto; Silveira, Pedro F; Couto, Antonio A

    2018-05-09

    Patients with thoracic aortic aneurysm (TAA) are mostly asymptomatic and TAA is rarely related to heart failure (HF). We report the case of an 80-year-old female patient, with type A TAA without dissection, with right pulmonary artery and left atrium compression, who presented with HF, preserved ejection fraction and acute pulmonary edema. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Assessment of vasodilator therapy in patients with severe congestive heart failure: limitations of measurements of left ventricular ejection fraction and volumes

    International Nuclear Information System (INIS)

    Firth, B.G.; Dehmer, G.J.; Markham, R.V. Jr.; Willerson, J.T.; Hillis, L.D.

    1982-01-01

    Although noninvasive techniques are often used to assess the effect of vasodilator therapy in patients with congestive heart failure, it is unknown whether changes in noninvasively determined left ventricular ejection fraction, volume, or dimension reliably reflect alterations in intracardiac pressure and flow. Accordingly, we compared the acute effect of sodium nitroprusside on left ventricular volume and ejection fraction (determined scintigraphically) with its effect on intracardiac pressure and forward cardiac index (determined by thermodilution) in 12 patients with severe, chronic congestive heart failure and a markedly dilated left ventricle. Nitroprusside (infused at 1.3 +/- 1.1 [mean +/- standard deviation] microgram/kg/min) caused a decrease in mean systemic arterial, mean pulmonary arterial, and mean pulmonary capillary wedge pressure as well as a concomitant increase in forward cardiac index. Simultaneously, left ventricular end-diastolic and end-systolic volume indexes decreased, but the scintigraphically determined cardiac index did not change significantly. Left ventricular ejection fraction averaged 0.19 +/- 0.05 before nitroprusside administration and increased by less than 0.05 units in response to nitroprusside in 11 of 12 patients. The only significant correlation between scintigraphically and invasively determined variables was that between the percent change in end-diastolic volume index and the percent change in pulmonary capillary wedge pressure (r . 0.68, p . 0.01). Although nitroprusside produced changes in scintigraphically determined left ventricular ejection fraction, end-systolic volume index, and cardiac index, these alterations bore no predictable relation to changes in intracardiac pressure, forward cardiac index, or vascular resistance. Furthermore, nitroprusside produced a considerably greater percent change in the invasively measured variables than in the scintigraphically determined ones

  5. Off-pump coronary artery bypass surgery in severe left ventricular dysfunction.

    Science.gov (United States)

    Azarfarin, Rasoul; Pourafkari, Leili; Parvizi, Rezayat; Alizadehasl, Azin; Mahmoodian, Roghaiyeh

    2010-02-01

    Our aim was to examine hospital outcomes of coronary artery bypass surgery in patients with and without left ventricular dysfunction, with regard to the surgical technique (off- or on-pump). Between March 2007 and March 2008, 689 consecutive patients underwent isolated first-time coronary artery bypass; 127 had ejection fractions fractions >30% (group 2). Data of preoperative risk profiles and hospital outcomes were collected prospectively. Off-pump operations were performed in 49 (38.6%) patients in group 1 and 196 (34.9%) in group 2. The incidences of infectious, neurologic, and cardiac complications postoperatively were significantly higher in group 1. In multivariate analysis, preoperative ejection fraction operations, but no significant difference in mortality was observed between those undergoing off-pump or conventional surgery in either group. Off-pump surgery helped to limit the increased morbidity rate after coronary bypass in patients with ventricular dysfunction.

  6. Arteriolymphatic Fistula: An Unusual Cause of Spontaneous Swelling in the Left Supraclavicular Region

    Energy Technology Data Exchange (ETDEWEB)

    Karuppiah Viswanathan, Ashok Mithra, E-mail: ashokmithrakv@gmail.com; Irodi, Aparna; Keshava, Shyamkumar N., E-mail: aparna-shyam@yahoo.com [Christian Medical College Hospital, Department of Radiology (India); Aneez, Joseph; Karthik, Gunasekaran [Christian Medical College Hospital, Department of Medicine (India)

    2016-09-15

    An abnormal fistulous communication between an artery and lymphatic system is a rare occurrence. We report a 38-year-old male presenting with sudden onset, spontaneous, pulsatile swelling in the left supraclavicular region following a recent cardiac catheterisation via right femoral arterial access. On evaluation, he was found to have a femoral arteriolymphatic fistula. He was managed conservatively with ultrasound-guided compression with complete resolution of symptoms at follow-up. This case describes a hitherto unknown complication of percutaneous vascular cannulation presenting in an unusual manner, diagnosed with Doppler Ultrasonography and CT angiography and managed effectively with a non-invasive therapeutic image-guided manoeuvre.

  7. Long-term mortality from cardiac causes after adjuvant hypofractionated vs. conventional radiotherapy for localized left-sided breast cancer.

    Science.gov (United States)

    Chan, Elisa K; Woods, Ryan; Virani, Sean; Speers, Caroline; Wai, Elaine S; Nichol, Alan; McBride, Mary L; Tyldesley, Scott

    2015-01-01

    Ongoing concern remains regarding cardiac injury with hypofractionated whole breast/chest-wall radiotherapy (HF-WBI) compared to conventional radiotherapy (CF-WBI) in left-sided breast cancer patients. The purpose was to determine if cardiac mortality increases with HF-WBI relative to CF-WBI. Between 1990 and 1998, 5334 women with early-stage breast cancer received post-operative radiotherapy to the breast/chest wall alone. A population-based database recorded baseline patient, tumor and treatment factors. Baseline cardiovascular risk factors were identified from hospital administrative records. A propensity-score model balanced risk factors between radiotherapy groups. Cause of death was coded as breast cancer, cardiac or other cause. Cumulative mortality from each cause after radiotherapy was estimated using a competing risk approach. For left-sided cases, median follow-up was 14.2 years. 485 women received CF-WBI, 2221 women received HF-WBI. There was no difference in 15-year mortality from cardiac causes: 4.8% with HF-WBI and 4.2% with CF-WBI (p=0.74), even after propensity-score adjustment (p=0.45). There was no difference in breast cancer mortality or other cause mortality. For right-sided cases, there was no difference in mortality for the three causes of death. At 15-years follow-up, cardiac mortality is not statistically different among left-sided breast cancer patients treated with HF-WBI or CF-WBI. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Long-term mortality from cardiac causes after adjuvant hypofractionated vs. conventional radiotherapy for localized left-sided breast cancer

    International Nuclear Information System (INIS)

    Chan, Elisa K.; Woods, Ryan; Virani, Sean; Speers, Caroline; Wai, Elaine S.; Nichol, Alan; McBride, Mary L.; Tyldesley, Scott

    2015-01-01

    Background and purpose: Ongoing concern remains regarding cardiac injury with hypofractionated whole breast/chest-wall radiotherapy (HF-WBI) compared to conventional radiotherapy (CF-WBI) in left-sided breast cancer patients. The purpose was to determine if cardiac mortality increases with HF-WBI relative to CF-WBI. Materials and methods: Between 1990 and 1998, 5334 women with early-stage breast cancer received post-operative radiotherapy to the breast/chest wall alone. A population-based database recorded baseline patient, tumor and treatment factors. Baseline cardiovascular risk factors were identified from hospital administrative records. A propensity-score model balanced risk factors between radiotherapy groups. Cause of death was coded as breast cancer, cardiac or other cause. Cumulative mortality from each cause after radiotherapy was estimated using a competing risk approach. Results: For left-sided cases, median follow-up was 14.2 years. 485 women received CF-WBI, 2221 women received HF-WBI. There was no difference in 15-year mortality from cardiac causes: 4.8% with HF-WBI and 4.2% with CF-WBI (p = 0.74), even after propensity-score adjustment (p = 0.45). There was no difference in breast cancer mortality or other cause mortality. For right-sided cases, there was no difference in mortality for the three causes of death. Conclusions: At 15-years follow-up, cardiac mortality is not statistically different among left-sided breast cancer patients treated with HF-WBI or CF-WBI

  9. Safety and effect of high dose allopurinol in patients with severe left ventricular systolic dysfunction

    Directory of Open Access Journals (Sweden)

    Mohammad Mostafa Ansari-Ramandi

    2017-06-01

    Conclusion: Allopurinol could be of benefit in non-hyperuricemic patients with severe LV systolic dysfunction without significant adverse effects. Randomized clinical trials are needed in future to confirm the results.

  10. 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.

  11. Malignant Course of Anomalous Left Coronary Artery Causing Sudden Cardiac Arrest: A Case Report and Review of the Literature.

    Science.gov (United States)

    Anantha Narayanan, Mahesh; DeZorzi, Christopher; Akinapelli, Abhilash; Mahfood Haddad, Toufik; Smer, Aiman; Baskaran, Janani; Biddle, William P

    2015-01-01

    Sudden cardiac arrest has been reported to occur in patients with congenital anomalous coronary artery disease. About 80% of the anomalies are benign and incidental findings at the time of catheterization. We present a case of sudden cardiac arrest caused by anomalous left anterior descending artery. 61-year-old African American female was brought to the emergency department after sudden cardiac arrest. Initial EKG showed sinus rhythm with RBBB and LAFB with nonspecific ST-T wave changes. Coronary angiogram revealed no atherosclerotic disease. The left coronary artery was found to originate from the right coronary cusp. Cardiac CAT scan revealed similar findings with interarterial and intramural course. Patient received one-vessel arterial bypass graft to her anomalous coronary vessel along with a defibrillator for secondary prevention. Sudden cardiac arrest secondary to congenital anomalous coronary artery disease is characterized by insufficient coronary flow by the anomalous left coronary artery to meet elevated left ventricular (LV) myocardial demand. High risk defects include those involved with the proximal coronary artery or coursing of the anomalous artery between the aorta and pulmonary trunk. Per guidelines, our patient received one vessel bypass graft to her anomalous vessel. It is important for clinicians to recognize such presentations of anomalous coronary artery.

  12. Malignant Course of Anomalous Left Coronary Artery Causing Sudden Cardiac Arrest: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Mahesh Anantha Narayanan

    2015-01-01

    Full Text Available Sudden cardiac arrest has been reported to occur in patients with congenital anomalous coronary artery disease. About 80% of the anomalies are benign and incidental findings at the time of catheterization. We present a case of sudden cardiac arrest caused by anomalous left anterior descending artery. 61-year-old African American female was brought to the emergency department after sudden cardiac arrest. Initial EKG showed sinus rhythm with RBBB and LAFB with nonspecific ST-T wave changes. Coronary angiogram revealed no atherosclerotic disease. The left coronary artery was found to originate from the right coronary cusp. Cardiac CAT scan revealed similar findings with interarterial and intramural course. Patient received one-vessel arterial bypass graft to her anomalous coronary vessel along with a defibrillator for secondary prevention. Sudden cardiac arrest secondary to congenital anomalous coronary artery disease is characterized by insufficient coronary flow by the anomalous left coronary artery to meet elevated left ventricular (LV myocardial demand. High risk defects include those involved with the proximal coronary artery or coursing of the anomalous artery between the aorta and pulmonary trunk. Per guidelines, our patient received one vessel bypass graft to her anomalous vessel. It is important for clinicians to recognize such presentations of anomalous coronary artery.

  13. 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.

  14. Infliximab-associated alveolitis after treatment for severe left-sided ulcerative colitis.

    LENUS (Irish Health Repository)

    Veerappan, Sundaram G

    2012-02-01

    Here we describe a patient with ulcerative colitis who developed alveolitis after infliximab therapy. With earlier case reports of development of alveolitis in rheumatoid arthritis patients after infliximab infusion, the temporal relationship between the infliximab therapy and the development of alveolitis in this case, raises the possibility that the two might be causally related. With an increasing trend towards treating moderate to severely active ulcerative colitis patients with infliximab as a rescue therapy, clinicians should be aware of this potentially serious complication.

  15. Congenital left paraduodenal hernia causing chronic abdominal pain and abdominal catastrophe.

    Science.gov (United States)

    Shi, Yan; Felsted, Amy E; Masand, Prakash M; Mothner, Brent A; Nuchtern, Jed G; Rodriguez, J Ruben; Vasudevan, Sanjeev A

    2015-04-01

    Paraduodenal hernias are the most common type of congenital internal hernia. Because of its overall rare incidence, this entity is often overlooked during initial assessment of the patient. Lack of specific diagnostic criteria also makes diagnosis exceedingly difficult, and the resulting diagnostic delays can lead to tragic outcomes for patients. Despite these perceived barriers to timely diagnosis, there may be specific radiographic findings that, when combined with the appropriate constellation of clinical symptoms, would aid in diagnosis. This patient first presented at 8 years of age with vague symptoms of postprandial emesis, chronic abdominal pain, nausea, and syncope. Over the span of 6 years he was evaluated 2 to 3 times a year with similar complaints, all of which quickly resolved spontaneously. He underwent multiple laboratory, imaging, and endoscopic studies, which were nondiagnostic. It was not until he developed signs of a high-grade obstruction and extremis that he was found to have a large left paraduodenal hernia that had volvulized around the superior mesenteric axis. This resulted in the loss of the entire superior mesenteric axis distribution of the small and large intestine and necrosis of the duodenum. In cases of chronic intermittent obstruction without clear etiology, careful attention and consideration should be given to the constellation of symptoms, imaging studies, and potential use of diagnostic laparoscopy. Increased vigilance by primary care and consulting physicians is necessary to detect this rare but readily correctable condition. Copyright © 2015 by the American Academy of Pediatrics.

  16. Association of aortic and main left coronary aneurysms with severe aortic insufficiency in Takayasu’s arteritis

    Directory of Open Access Journals (Sweden)

    Marcelo Ferraz de Freitas

    2011-04-01

    Full Text Available Takayasu’s arteritis is a granulomatous vasculitis of unknown etiology that affects mainly the aorta and its branches. As a result of intimal fibroproliferation, segmental stenosis, occlusion, dilatation, and aneurysmal formation of the involved vessels may develop. It is an uncommon disease and usually affects young Asian female patients during the second and third decades of life. Coronary arteries are exceptionally affected and coronary aneurysm formation is a very rare finding. We describe a case of a previously healthy 26-year-old Caucasian female whose Takayasu’s arteritis presented as a previously undescribed association of aortic and main left coronary aneurysms with severe aortic insufficiency.

  17. Association of aortic and main left coronary aneurysms with severe aortic insufficiency in Takayasu’s arteritis

    Science.gov (United States)

    Schafranski, Marcelo Derbli; Ferraz de Freitas, Marcelo; Valladão de Carvalho, Marcelo

    2011-01-01

    Takayasu’s arteritis is a granulomatous vasculitis of unknown etiology that affects mainly the aorta and its branches. As a result of intimal fibroproliferation, segmental stenosis, occlusion, dilatation, and aneurysmal formation of the involved vessels may develop. It is an uncommon disease and usually affects young Asian female patients during the second and third decades of life. Coronary arteries are exceptionally affected and coronary aneurysm formation is a very rare finding. We describe a case of a previously healthy 26-year-old Caucasian female whose Takayasu’s arteritis presented as a previously undescribed association of aortic and main left coronary aneurysms with severe aortic insufficiency. PMID:24765288

  18. Posterior Nutcracker Syndrome with Left Renal Vein Duplication: A Rare Cause of Haematuria in a 12-Year-Old Boy

    Directory of Open Access Journals (Sweden)

    J. Preza Fernandes

    2012-01-01

    Full Text Available The nutcracker syndrome (NCS is a rare cause of haematuria. It embraces an extended nonpathognomonic spectrum of symptoms that imply a difficult diagnosis. Ultimately it may be associated with substantial morbidity and even life-threatening events. We report a rare cause if a 12-year-old boy who presented with a history of frequent intermittent episodes of painless constant haematuria. The cystoscopy showed a bloody urine ejaculate from the left ureter meatus. The Doppler ultrasonography showed turbulent pattern of venous blood flow of the posterior renal vein branch behind the aorta. The abdominopelvic computer tomography (apCT revealed left renal vein (LRV duplication with a dilated retroaortic branch, entrapped between the aorta and the vertebral column, promoting the renal nutcracker syndrome. The patient was initially hospitalized and managed with oral iron supplements and continuous saline bladder irrigation, not requiring additional treatment. The child is currently asymptomatic, with haemoglobin value returning to normal and therefore proposed to conservative management with close followup. The authors present a case report of episodic haematuria caused by a rare entity—posterior nutcracker syndrome with renal vein duplication.

  19. Cardiovascular malformations caused by NOTCH1 mutations do not keep left : data on 428 probands with left-sided CHD and their families

    NARCIS (Netherlands)

    Kerstjens-Frederikse, Wilhelmina S.; van de Laar, Ingrid M. B. H.; Vos, Yvonne J.; Verhagen, Judith M. A.; Berger, Rolf M. F.; Lichtenbelt, Klaske D.; Wassink-Ruiter, Jolien S. Klein; van der Zwaag, Paul A.; Sarvaas, Gideon J. du Marchie; Bergman, Klasien A.; Bilardo, Catia M.; Roos-Hesselink, Jolien W.; Janssen, Johan H. P.; Frohn-Mulder, Ingrid M.; van Spaendonck-Zwarts, Karin Y.; Melle, van Joost P.; Hofstra, Robert M. W.; Wessels, M. W.

    Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome. Methods: NOTCH1 was screened for

  20. Terapia VAC® en traumatismo grave de pierna izquierda VAC® therapy in severe left leg injury

    Directory of Open Access Journals (Sweden)

    F.J. De Juan Pérez

    2010-09-01

    Full Text Available Las fracturas abiertas de los miembros inferiores debidas a traumatismos de alta energía, suponen un reto terapéutico debido a la gravedad de las heridas, la afectación importante de varios tipos de tejidos y a la complejidad de los procedimientos quirúrgicos necesarios para su tratamiento que pueden llegar hasta complicadas técnicas microquirúrgicas mediante colgajos libres, quedarse en un colgajo muscular o compuesto, pediculado, o bien mantener una actitud más conservadora. Esto último es posible desde la aparición en los años 90 de una nueva técnica, la Terapia Vacuum Assisted Closure (Terapia VAC®, que se basa en la aplicación de vacío o presión negativa sobre la herida. Este recurso terapéutico permite una pauta más conservadora de tratamiento de estas fracturas tan complejas, reduciendo los riesgos, la morbilidad y minimizando las complicaciones. Presentamos un caso de fractura del miembro inferior izquierdo, abierta, compleja, con policontusión y aplastamiento, que creemos muy demostrativo del excelente resultado clínico que se puede obtener mediante el empleo de la terapia con presión negativa con el Sistema VAC®.The open fractures of the lower limb caused by high energy trauma, poses a major surgical challenge. These wounds have a significative complexity, with multiple lesions involving bone, muscle, nerves, vessels, skin and subcutaneous tissues. There are a wide spectrum of reconstructive options for the treatment, most of them requiring complex microsurgical transfers of autologous tissue. The Vacuum Assisted Therapy (VAC® has become a most useful tool for the plastic surgeon since the last century´s 90 decade. Based in the application of negative pressure to the wound bed, promotes healing by granulation tissue formation, keeping the wound clean and avoiding bacterial colonization. Used as a primary method or in combination with others, VAC® therapy allows more conservative options in the treatment of these

  1. Terapia VAC® en traumatismo grave de pierna izquierda VAC® therapy in severe left leg injury

    Directory of Open Access Journals (Sweden)

    F.J. De Juan Pérez

    2011-12-01

    Full Text Available Las fracturas abiertas de los miembros inferiores debidas a traumatismos de alta energía, suponen un reto terapéutico debido a la gravedad de las heridas, la afectación importante de varios tipos de tejidos y a la complejidad de los procedimientos quirúrgicos necesarios para su tratamiento que pueden llegar hasta complicadas técnicas microquirúrgicas mediante colgajos libres, quedarse en un colgajo muscular o compuesto, pediculado, o bien mantener una actitud más conservadora. Esto último es posible desde la aparición en los años 90 de una nueva técnica, la Terapia Vacuum Assisted Closure (Terapia VAC®, que se basa en la aplicación de vacío o presión negativa sobre la herida. Este recurso terapéutico permite una pauta más conservadora de tratamiento de estas fracturas tan complejas, reduciendo los riesgos, la morbilidad y minimizando las complicaciones. Presentamos un caso de fractura del miembro inferior izquierdo, abierta, compleja, con policontusión y aplastamiento, que creemos muy demostrativo del excelente resultado clínico que se puede obtener mediante el empleo de la terapia con presión negativa con el Sistema VAC®.The open fractures of the lower limb caused by high energy trauma, poses a major surgical challenge. These wounds have a significative complexity, with multiple lesions involving bone, muscle, nerves, vessels, skin and subcutaneous tissues. There are a wide spectrum of reconstructive options for the treatment, most of them requiring complex microsurgical transfers of autologous tissue. The Vacuum Assisted Therapy (VAC® has become a most useful tool for the plastic surgeon since the last century´s 90 decade. Based in the application of negative pressure to the wound bed, promotes healing by granulation tissue formation, keeping the wound clean and avoiding bacterial colonization. Used as a primary method or in combination with others, VAC® therapy allows more conservative options in the treatment of these

  2. Transthoracic ultrasonic tissue indices identify patients with severe left anterior descending artery stenosis. Correlation with fractional flow reserve. Pilot study.

    Science.gov (United States)

    Dobrowolski, Piotr; Kowalski, Mirosław; Rybicka, Justyna; Lech, Agnieszka; Tyczyński, Paweł; Witkowski, Adam; Hoffman, Piotr

    2016-01-01

    The aim of this study was to evaluate the potential clinical application of ultrasonic tissue indices, with a focus on systolic strain (SS) and systolic strain rate (SSR) parameters derived from transthoracic echocardiography, in the assessment of left anterior descending artery (LAD) stenosis. The data of 30 patients with significant LAD stenosis were analysed. All patients underwent transthoracic echocardiography to obtain systolic myocardial velocity (Sm), longitudinal SS, and SSR from basal, mid, and apical segments of anterior and inferior walls in two-chamber apical view. Severity of LAD obstruction was measured by means of fractional flow reserve (FFR) during coronary catheterisation. Systolic velocities, strain, and strain rate measured in basal, middle, and apical segments of the anterior left ventricular (LV) wall were lower when compared to those obtained from the corresponding, i.e. unaffected, inferior LV wall. There was a significant correlation between FFR and the value of SS, SSR characterising the apical LV segment of the anterior wall (r = -0.583, p = 0.01; r = -0.598, p = 0.01, respectively). Moreover, we found significant correlation between FFR and Sm in the mid-segment of the LV anterior wall (r = 0.611, p = 0.009). We conclude that SS and SSR obtained from the apical segment of the anterior LV wall may be related to the severity of LAD stenosis.

  3. Left Ventricular Dysfunction Caused by Unrecognized Surgical AV block in a Patient with a Manifest Right Free Wall Accessory Pathway

    Directory of Open Access Journals (Sweden)

    Rakesh Gopinathannair, MD, MA

    2013-05-01

    Full Text Available A 24-year-old male with Wolff-Parkinson-White syndrome developed systolic cardiomyopathy and severe heart failure following membranous ventricular septal defect repair and tricuspid valve replacement. Following successful catheter ablation of a right anterolateral accessory pathway (AP, complete AV block with junctional escape rhythm was noted. Patient subsequently underwent implantation of a biventricular ICD. Heart failure symptoms significantly improved soon after and left ventricular systolic function normalized 3 months post-procedure. In this case, surgically acquired AV block likely explains development of postoperative cardiomyopathy by facilitating ventricular activation solely via the AP and thereby increasing the degree of ventricular dyssynchrony.

  4. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

    Science.gov (United States)

    Ramond, Francis; Duband, Sébastien; Croisille, Pierre; Cavé, Hélène; Teyssier, Georges; Adouard, Véronique; Touraine, Renaud

    2017-06-01

    Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  5. Implantable cardioverter-defibrillators improve survival after coronary artery bypass grafting in patients with severely impaired left ventricular function

    Directory of Open Access Journals (Sweden)

    Pasque Michael K

    2007-01-01

    Full Text Available Abstract Objective Patients with severe left ventricular (LV dysfunction have a poor long term survival despite complete surgical revascularization. Recent data suggests that the use of Implantable Cardioverter-Defibrillator (ICD improves survival in patients with severe LV dysfunction. We compared the survival impact of ICD implantation in patients with severe LV dysfunction who underwent CABG. Methods Between January 1996 and August 2004, 305 patients with LV ejection fraction (EF ≤25% had CABG surgery at our institution. Demographics of patients who had received an ICD (ICD+ in the post -operative period was compared to those without ICD (ICD-. Survival was evaluated by the Kaplan-Meier method. Results Of the entire group, 35 (11.5% patients received an ICD with a median of 2 (+/-2 years after CABG. Indication for ICD implantation was clinical evidence of non sustained ventricular tachycardia (NSVT. There were no differences between the 2 groups with respect to age, gender, NYHA classification, number of bypasses, or other co-morbidities. Survival at 1, 3 and 5 years was 88%, 79%, and 67% for the ICD- group compared to 94%, 89% and 83% for the ICD+ group, respectively (figure, p Conclusion Implantation of ICD after CABG confers improved short and long term survival benefit to patients with severe LV dysfunction. Prophylactic ICD implantation in the setting of severe LV dysfunction and CABG surgery should be considered.

  6. Variability of the fractal dimension of the left coronary tree in-patient with disease arterial severe occlusive

    International Nuclear Information System (INIS)

    Rodriguez, Javier; Alvarez, Luisa F; Marino, Martha E and others

    2004-01-01

    Fractal geometry is a chapter of mathematics that allows the measurement of irregularity in natural objects. The adequate measures in order to characterize the forms of the human body are the fractal dimensions. Coronary ramification is a fractal object, which enables the diagnosis of occlusive arterial disease by the measurement of an arterial segment obtained by coronary angiography, without measuring the impact of the obstruction in the whole ramification. Fractal dimension evaluates the irregularity of the whole coronary ramification. The right anterior oblique projection (RAO) of the left coronary ramifications (LCR) obtained through arteriography is evaluated with fractal dimensions, using the box counting method. Images of the ramification between systole and diastole were measured in 14 patients, 7 of them without occlusive arterial disease, group 1, and 7 with severe occlusive arterial disease, group 2. Patients without occlusive arterial disease showed a greater variability in the fractal dimensions sequence evaluated with the net difference, being in general this difference other than zero

  7. Intraoperative Hemodynamic and Echocardiographic Measurements Associated With Severe Right Ventricular Failure After Left Ventricular Assist Device Implantation.

    Science.gov (United States)

    Gudejko, Michael D; Gebhardt, Brian R; Zahedi, Farhad; Jain, Ankit; Breeze, Janis L; Lawrence, Matthew R; Shernan, Stanton K; Kapur, Navin K; Kiernan, Michael S; Couper, Greg; Cobey, Frederick C

    2018-06-05

    Severe right ventricular failure (RVF) after left ventricular assist device (LVAD) implantation increases morbidity and mortality. We investigated the association between intraoperative right heart hemodynamic data, echocardiographic parameters, and severe versus nonsevere RVF. A review of LVAD patients between March 2013 and March 2016 was performed. Severe RVF was defined by the need for a right ventricular mechanical support device, inotropic, and/or inhaled pulmonary vasodilator requirements for >14 days. From a chart review, the right ventricular failure risk score was calculated and right heart hemodynamic data were collected. Pulmonary artery pulsatility index (PAPi) [(pulmonary artery systolic pressure - pulmonary artery diastolic pressure)/central venous pressure (CVP)] was calculated for 2 periods: (1) 30 minutes before cardiopulmonary bypass (CPB) and (2) after chest closure. Echocardiographic data were recorded pre-CPB and post-CPB by a blinded reviewer. Univariate logistic regression models were used to examine the performance of hemodynamic and echocardiographic metrics. A total of 110 LVAD patients were identified. Twenty-five did not meet criteria for RVF. Of the remaining 85 patients, 28 (33%) met criteria for severe RVF. Hemodynamic factors associated with severe RVF included: higher CVP values after chest closure (18 ± 9 vs 13 ± 5 mm Hg; P = .0008) in addition to lower PAPi pre-CPB (1.2 ± 0.6 vs 1.7 ± 1.0; P = .04) and after chest closure (0.9 ± 0.5 vs 1.5 ± 0.8; P = .0008). Post-CPB echocardiographic findings associated with severe RVF included: larger right atrial diameter major axis (5.4 ± 0.9 vs 4.9 ± 1.0 cm; P = .03), larger right ventricle end-systolic area (22.6 ± 8.4 vs 18.5 ± 7.9 cm; P = .03), lower fractional area of change (20.2 ± 10.8 vs 25.9 ± 12.6; P = .04), and lower tricuspid annular plane systolic excursion (0.9 ± 0.2 vs 1.1 ± 0.3 cm; P = .008). Right ventricular failure risk score was not a significant predictor of

  8. Varus deformity of the left lower extremity causing degenerative lesion of the posterior horn of the left medial meniscus in a patient with Paget’s disease of bone

    Directory of Open Access Journals (Sweden)

    Al Kaissi, Ali

    2014-09-01

    Full Text Available [english] We report on a 42-year-old woman who presented with persistent pain in her left knee with no history of trauma. Sagittal T1-weighted MRI of the left knee showed discontinuity between the anterior and posterior horns of the left medial meniscus, causing effectively the development of degenerative lesion of the posterior horn. The latter was correlated to varus deformity of the left lower extremity associated with subsequent narrowing of the medial knee joint. The unusual craniofacial contour of the patient, the skeletal survey and the elevated serum alkaline phosphatase were compatible with the diagnosis of Paget’s disease of the bone. To alleviate the adverse effect of the mal-alignment of the left femur onto the left knee, corrective osteotomy of the left femoral diaphysis by means of fixators was performed. To the best of our knowledge this is the first clinical report describing the management and the pathological correlation of a unilateral varus deformity of the femoral shaft and degenerative lesions of the left knee in a patient with Paget’s disease of the bone.

  9. Comparison of Causes of Death After Heart Transplantation in Patients With Left Ventricular Ejection Fractions ≤35% Versus >35.

    Science.gov (United States)

    Birati, Edo Y; Mathelier, Hansie; Molina, Maria; Hanff, Thomas C; Mazurek, Jeremy A; Atluri, Pavan; Acker, Michael A; Rame, J Eduardo; Margulies, Kenneth B; Goldberg, Lee R; Jessup, Mariell

    2016-04-15

    Sudden cardiac death (SCD) is a common cause of death in the general population, occurring in 300,000 to 350,000 people in the United States alone. Currently, there are no data supporting implantable cardioverter-defibrillator therapy in patients who underwent orthotopic heart transplant (OHT) with low left ventricular ejection fraction (LVEF). In this retrospective study, we included all patients who underwent primary OHT at our institution from 2007 to 2013. We compared the cause of death in patients who underwent OHT and evaluated the correlation of the cause of death and the patients' LVEF. Our objectives were to determine whether patients who underwent OHT with LVEF 6 months after OHT. Surviving patients had higher LVEF compared with deceased patients (64 ± 7% and 50 ± 24%, respectively, p ≤0.001). In all, 10 (25%) of the deceased patients died suddenly, 9 (23%) from sepsis, and 8 (20%) from malignancy. Of the 11 deceased patients with LVEF ≤35%, 2 patients (18%) died suddenly compared with 9 SCDs among the 29 deceased patients (31%) with LVEF >35% (p = 0.54). In conclusion, patients who underwent OHT who died were more likely to have LVEF <35%, and a quarter of the deceased patients who underwent OHT died suddenly. A reduced LVEF was not associated with an increased risk of SCD. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Percutaneous Coronary Intervention in Severely Calcified Unprotected Left Main Coronary Artery Disease: Initial Experience With Orbital Atherectomy.

    Science.gov (United States)

    Lee, Michael S; Shlofmitz, Evan; Kaplan, Barry; Shlofmitz, Richard

    2016-04-01

    We report the clinical outcomes of patients who underwent percutaneous coronary intervention (PCI) with orbital atherectomy for severely calcified unprotected left main coronary artery (ULMCA) disease. Although surgical revascularization is the gold standard for patients with ULMCA disease, not all patients are candidates for this. PCI is increasingly used to treat complex coronary artery disease, including ULMCA disease. The presence of severely calcified lesions increases the complexity of PCI. Orbital atherectomy can be used to facilitate stent delivery and expansion in severely calcified lesions. The clinical outcomes of patients treated with orbital atherectomy for severely calcified ULMCA disease have not been reported. From May 2014 to July 2015, a total of 14 patients who underwent PCI with orbital atherectomy for ULMCA disease were retrospectively evaluated. The primary endpoint was major cardiac and cerebrovascular event (cardiac death, myocardial infarction, stroke, and target-lesion revascularization) at 30 days. The mean age was 78.2 ± 5.8 years. The mean ejection fraction was 41.8 ± 19.8%. Distal bifurcation disease was present in 9 of 14 patients. Procedural success was achieved in all 14 patients. The 30-day major adverse cardiac and cerebrovascular event rate was 0%. One patient had coronary dissection that was successfully treated with stenting. No patient had perforation, slow flow, or thrombosis. Orbital atherectomy in patients with severely calcified ULMCA disease is feasible, even in high-risk patients who were considered poor surgical candidates. Randomized trials are needed to determine the role of orbital atherectomy in ULMCA disease.

  11. 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

  12. Predicting changes in flow category in patients with severe aortic stenosis and preserved left ventricular ejection fraction on medical therapy.

    Science.gov (United States)

    Ngiam, Jinghao Nicholas; Kuntjoro, Ivandito; Tan, Benjamin Y Q; Sim, Hui-Wen; Kong, William K F; Yeo, Tiong-Cheng; Poh, Kian-Keong

    2017-11-01

    Controversy surrounds the prognosis and management of patients with paradoxical low-flow severe aortic stenosis (AS) with preserved left ventricular ejection fraction (LVEF). It was not certain if patients in a particular flow category remained in the same category as disease progressed. We investigated whether there were switches in categories and if so, their predictors. Consecutive subjects (n = 203) with isolated severe AS and paired echocardiography (>180 days apart) were studied. They were divided into 4 groups, based on their flow categories and if they progressed on subsequent echocardiography to switch or remain in the same flow category. Univariate analyses of clinical and echocardiographic parameters identified predictors of these changes in flow category. One hundred eighteen were normal flow (SVI ≥ 35 mL/m 2 ), while 85 were low flow on index echocardiography. In the patients with normal flow, 33% switched to low flow. This was associated with higher valvuloarterial impedance (Zva, P 4.77 mm Hg/mL/m 2 , AUC = 0.81 [95% CI:0.75-0.87, P < .001]). In patients with low flow, 25% switched to normal flow, which was associated with lower Zva and higher SAC and the switch was predicted by a higher initial mean transaortic pressure gradient. A significant number of patients switched flow categories in severe AS with preserved LVEF on subsequent echocardiography. Changes in flow were reflected by respective changes in Zva and SAC. Identifying echocardiographic predictors of a switch in category may guide prognostication and management of such patients. © 2017, Wiley Periodicals, Inc.

  13. 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.)

  14. 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.

  15. Factors associated with moderate or severe left atrioventricular valve regurgitation within 30 days of repair of incomplete atrioventricular septal defect

    Directory of Open Access Journals (Sweden)

    Marcelo Felipe Kozak

    2015-04-01

    Full Text Available AbstractIntroduction:Left atrioventricular valve regurgitation is the most concerning residual lesion after surgical correction of atrioventricular septal defect.Objective:To determine factors associated with moderate or greater left atrioventricular valve regurgitation within 30 days of surgical repair of incomplete atrioventricular septal defect.Methods:We assessed the results of 51 consecutive patients 14 years-old and younger presenting with incomplete atrioventricular septal defect that were operated on at our practice between 2002 and 2010. The following variables were considered: age, weight, absence of Down syndrome, grade of preoperative left atrioventricular valve regurgitation, abnormalities on the left atrioventricular valve and the use of annuloplasty. The median age was 4.1 years; the median weight was 13.4 Kg; 37.2% had Down syndrome. At the time of preoperative evaluation, there were 23 cases with moderate or greater left atrioventricular valve regurgitation (45.1%. Abnormalities on the left atrioventricular valve were found in 17.6%; annuloplasty was performed in 21.6%.Results:At the time of postoperative evaluation, there were 12 cases with moderate or greater left atrioventricular valve regurgitation (23.5%. The variation between pre- and postoperative grades of left atrioventricular valve regurgitation of patients with atrioventricular valve malformation did not reach significance (P=0.26, unlike patients without such abnormalities (P=0.016. During univariate analysis, only absence of Down syndrome was statistically significant (P=0.02. However, after a multivariate analysis, none of the factors reached significance.Conclusion:None of the factors studied was determinant of a moderate or greater left atrioventricular valve regurgitation within the first 30 days of repair of incomplete atrioventricular septal defect in the sample. Patients without abnormalities on the left atrioventricular valve benefit more of the operation.

  16. [Right extremities pain caused by a malacia lesion in the left putamen:a resting functional magnetic resonance imaging of the marginal division of the human brain].

    Science.gov (United States)

    Chen, Zhi-Ye; Ma, Lin

    2014-04-01

    To explore the role of marginal division of the human brain in the pain modulation. Resting functional magnetic resonance imaging was applied in a patient with right extremities pain caused by a malacia lesion in the left putamen and in 8 healthy volunteers. Marginal division was defined using manual drawing on structure images, and was applied to the computation of fuctional connectivity maps. The functional connectivities in the left marginal division showed an evident decrease in the patient when compared with healthy controls. These connectivities were mainly located in the bilateral head of caudate nucleus, putamen, and left globus pallidus. The marginal division may be involved in the pain modulation.

  17. Overweight causes left ventricular diastolic asynchrony and diastolic dysfunction: a study based on speckle tracking echocardiography in healthy subjects.

    Science.gov (United States)

    Nakabachi, Masahiro; Mikami, Taisei; Okada, Kazunori; Onozuka, Hisao; Kaga, Sanae; Inoue, Mamiko; Yokoyama, Shinobu; Nishida, Mutsumi; Shimizu, Chikara; Matsuno, Kazuhiko; Iwano, Hiroyuki; Yamada, Satoshi; Tsutsui, Hiroyuki

    2012-09-01

    Left ventricular (LV) diastolic dysfunction is often observed in healthy subjects and can be a cause of heart failure with preserved ejection fraction (EF). We aimed to investigate the role of LV diastolic asynchrony as a cause of diastolic dysfunction in healthy subjects. In 40 healthy subjects, two-dimensional speckle tracking imaging (2DSTI) was performed to measure the peak early diastolic longitudinal strain rates (Esr) of the apical, mid-ventricular, and basal segments of the septum and posterior wall. A mean value of the Esr of the 6 segments (mEsr) was calculated. The time from aortic valve closure to the Esr was measured for each segment, and the standard deviation (SDTEsr) was calculated. The peak global early diastolic strain rate (gEsr) was measured with a region of interest (ROI) on the whole LV myocardium. LV flow propagation velocity (FPV) was measured using conventional Doppler techniques. SDTEsr was not correlated with age, but was significantly correlated with body mass index (BMI) (r = 0.41, p < 0.01). Although no significant correlation was observed between mEsr and FPV, gEsr and SDTEsr significantly correlated with FPV (r = 0.41, p < 0.01; r = -0.54, p < 0.001). As a result of the multiple regression analysis, SDTEsr was the single determinant of FPV. Diastolic asynchrony, associated with overweight but not with aging, may contribute to diastolic dysfunction in healthy subjects.

  18. Laparoscopic colostomy for acute left colon obstruction caused by diverticular disease in high risk patient: A case report.

    Science.gov (United States)

    Palladino, Elisa; Cappiello, Antonio; Guarino, Vincenzo; Perrotta, Nicola; Loffredo, Domenico

    2015-01-01

    The colostomy is often necessary in complicated divertcular disease. The laparoscopic colostomy is not widely used for the treatment of complicated diverticular disease. Its use in patients with high operative risk is still on debate. The aim of this case report was to present the benefits of laparoscopic colostomy in patients with high peri-and postoperative risk factors. We present a case of 76-year-old female admitted to emergency unit for left colonic obstruction. The patient had a past history of liver cirrhosis HCV-related with a severe malnutrition, hypertrophic cardiomyopathy, diverticular disease, hiatal ernia, previous appendectomy. Patient was classified according to their preoperative risk ASA 3 (classification of the American society of Anestesia-ASA score). Contrast-enhanced abdominal CT revealed a marked thickening in the sigmoid colon and a marked circumferential stenosis in the sigmoid colon in absence of neoplasm, and/or abscess. The laparoscopic procedure is proposed as first intention. The operation time was 50min, and the hospital stay was 4 days. Post operative complications grade I according to the Clavien Dindo Classification. Laparoscopic colostomy is safe and feasible procedure in experienced hands. It is associated with low morbidity and short stay in hospital and should be considered a good alternative to a laparotomy. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  19. Effect of mental stress on left ventricular ejection fraction and its relationship to the severity of coronary artery disease

    International Nuclear Information System (INIS)

    Kuroda, Toru; Kuwabara, Yoichi; Watanabe, Satoshi; Nakaya, Jiro; Hasegawa, R.; Shikama, Takeshi; Matsuno, Kouki; Mikami, Yuji; Fujii, Kiyotaka; Saito, Toshihiro; Masuda, Yoshiaki

    2000-01-01

    To evaluate the relationship between the mental stress-induced decrease in left ventricular ejection fraction (LVEF) and the severity of exercise-induced ischaemia, 20 patients with stable coronary artery disease (CAD) underwent radionuclide ventriculography during mental stress testing and stress myocardial perfusion single-photon emission tomography (SPET). We also examined whether changes in haemodynamic and neurohormonal parameters are related to changes in LVEF during mental stress. The LVEF decreased from 54.8%±17.7% to 49.8%±16.2% with mental stress (P<0.0005). Ten of the 20 patients (50.0%) had a ≥5% decrease in LVEF. The remaining ten patients had no or a <5% decrease in LVEF. There was a significant correlation between the change in LVEF during mental stress and the size of the reversible defect on stress myocardial perfusion SPET (r=-0.80, P<0.0005), with close regional correspondence (75% identical). This correlation was less strong in the 12 patients with a total defect score at rest of <10 (r=-0.69, P=0.014) than in the eight patients with a total defect score at rest of ≥10 (r=-0.94, P=0.001). The changes in blood pressure and heart rate were not significantly correlated with the change in LVEF, but the percent change in adrenaline concentration correlated with the change in LVEF. It is suggested that mental stress impairs systolic function by inducing transient myocardial ischaemia. The effect of neurohormonal responses during mental stress on LV systolic function may also be important in patients with CAD. (orig.)

  20. Effect of mental stress on left ventricular ejection fraction and its relationship to the severity of coronary artery disease

    Energy Technology Data Exchange (ETDEWEB)

    Kuroda, Toru; Kuwabara, Yoichi; Watanabe, Satoshi; Nakaya, Jiro; Hasegawa, R.; Shikama, Takeshi; Matsuno, Kouki; Mikami, Yuji; Fujii, Kiyotaka; Saito, Toshihiro; Masuda, Yoshiaki [Dept. of Internal Medicine, Chiba Univ. (Japan)

    2000-12-01

    To evaluate the relationship between the mental stress-induced decrease in left ventricular ejection fraction (LVEF) and the severity of exercise-induced ischaemia, 20 patients with stable coronary artery disease (CAD) underwent radionuclide ventriculography during mental stress testing and stress myocardial perfusion single-photon emission tomography (SPET). We also examined whether changes in haemodynamic and neurohormonal parameters are related to changes in LVEF during mental stress. The LVEF decreased from 54.8%{+-}17.7% to 49.8%{+-}16.2% with mental stress (P<0.0005). Ten of the 20 patients (50.0%) had a {>=}5% decrease in LVEF. The remaining ten patients had no or a <5% decrease in LVEF. There was a significant correlation between the change in LVEF during mental stress and the size of the reversible defect on stress myocardial perfusion SPET (r=-0.80, P<0.0005), with close regional correspondence (75% identical). This correlation was less strong in the 12 patients with a total defect score at rest of <10 (r=-0.69, P=0.014) than in the eight patients with a total defect score at rest of {>=}10 (r=-0.94, P=0.001). The changes in blood pressure and heart rate were not significantly correlated with the change in LVEF, but the percent change in adrenaline concentration correlated with the change in LVEF. It is suggested that mental stress impairs systolic function by inducing transient myocardial ischaemia. The effect of neurohormonal responses during mental stress on LV systolic function may also be important in patients with CAD. (orig.)

  1. 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.

  2. 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.

  3. 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

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. [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.

  9. Ruptured Sinus of Valsalva Aneurysm into the Left Atrium with Multiple Fistulous Communications: A Rare Cause of Heart Failure

    Directory of Open Access Journals (Sweden)

    Yashwant Agrawal

    2015-01-01

    Full Text Available Ruptured noncoronary sinus of valsalva aneurysm with fistulous connections to multiple cardiac chambers has not been reported previously. We report a 66-year-old man who presented with worsening cough and exertional dyspnea. Transesophageal echocardiogram confirmed a large aneurysm involving the noncoronary cusp of the aortic sinus with aneurysmal extension to the left atrium. There were also two fistulous communications with the left atrium and one small fistulous connection with the right atrium. Open-heart surgery with aortic root replacement and reimplantation of coronary arteries along with primary closure and repair of aorta to the left atrial fistula was performed.

  10. Catheter-based intervention for symptomatic patient with severe mitral regurgitation and very poor left ventricular systolic function - Safe but no room for complacency.

    Science.gov (United States)

    Loh, Poay Huan; Bourantas, Christos V; Chan, Pak Hei; Ihlemann, Nikolaj; Gustafsson, Fin; Clark, Andrew L; Price, Susanna; Mario, Carlo Di; Moat, Neil; Alamgir, Farqad; Estevez-Loureiro, Rodrigo; Søndergaard, Lars; Franzen, Olaf

    2015-11-26

    Many patients with left ventricular systolic dysfunction have concomitant mitral regurgitation (MR). Their symptoms and prognosis worsen with increasing severity of MR. Percutaneous MitraClip(®) can be used safely to reduce the severity of MR even in patients with advanced heart failure and is associated with improved symptoms, quality of life and exercise tolerance. However, a few patients with very poor left ventricular systolic function may experience significant haemodynamic disturbance in the peri-procedural period. We present three such patients, highlighting some of the potential problems encountered and discuss their possible pathophysiological mechanisms and safety measures.

  11. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    Energy Technology Data Exchange (ETDEWEB)

    Saul, David; Johnson, Ann M.; Victoria, Teresa [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); Degenhardt, Karl; Rychik, Jack [The Children' s Hospital of Philadelphia, Cardiac Center and Fetal Heart Program, Philadelphia, PA (United States); Iyoob, Suzanne D.; Johnson, Mark P. [The Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Surrey, Lea F. [The Children' s Hospital of Philadelphia, Pathology Department, Philadelphia, PA (United States)

    2016-04-15

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  12. Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

    International Nuclear Information System (INIS)

    Saul, David; Johnson, Ann M.; Victoria, Teresa; Degenhardt, Karl; Rychik, Jack; Iyoob, Suzanne D.; Johnson, Mark P.; Surrey, Lea F.

    2016-01-01

    Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the ''nutmeg lung.'' To investigate the association of fetal nutmeg lung with HLHS survival. A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS. (orig.)

  13. 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.

  14. Do implantable cardioverter defibrillators improve survival in patients with severe left ventricular systolic dysfunction after coronary artery bypass graft surgery?

    Science.gov (United States)

    Fazal, Iftikhar A; Bates, Matthew G D; Matthews, Iain G; Turley, Andrew J

    2011-06-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was whether implantable cardioverter defibrillators (ICD) improve survival in patients with severe left ventricular systolic dysfunction (LVSD) after coronary artery bypass graft (CABG) surgery. ICDs are designed to terminate potentially fatal cardiac tachyarrhythmias. A right ventricular lead is mandatory for detection, pacing and defibrillation capabilities. Dual chamber ICDs have an additional right atrial lead and are used for patients with conventional atrioventricular pacing indications. More sophisticated, biventricular devices exist to provide cardiac resynchronisation therapy (CRT) in addition to defibrillation (CRT-D). ICDs have been extensively investigated in patients with LVSD post myocardial infarction and in patients with non-ischaemic cardiomyopathy for both secondary prevention (history of ventricular arrhythmias) and primary prevention (deemed high risk for ventricular arrhythmias). This best evidence topic aims to review the evidence and its applicability to patients post CABG. Nine hundred and sixteen papers were identified using the search method outlined. Eight randomised controlled trials, two meta-analyses, and one non-randomised trial, in addition to international guidelines presented the best evidence to answer the clinical question. The current evidence base and guidelines suggest that ICDs should be considered for all patients with LVSD [ejection fraction (EF) ≤30-40%] receiving optimal pharmacological management, who are ≥40 days post MI [four weeks for National Institute for Health and Clinical Excellence (NICE)] and in New York Heart Association (NYHA) class I-III. UK NICE guidelines require in addition; non-sustained ventricular tachycardia (NSVT) on a Holter monitor and inducible ventricular tachycardia at electrophysiological study for EF between 30 and 35%; or a QRS >120 ms if EF <30%. The North American guidelines

  15. Correlation between coronary artery disease severity, left ventricular mass index and carotid intima media thickness, assessed by radio-frequency

    Directory of Open Access Journals (Sweden)

    Ciccone Marco M

    2011-11-01

    Full Text Available Abstract Background Intima-media thickness of the common carotid artery (CCA-IMT is a validated marker of systemic atherosclerosis process. The aim of this study was to evaluate the association between coronary artery disease (CAD, left ventricular hypertrophy (LVH and CCA-IMT, assessed by Radio Frequency-Quality Intima Media Thickness (RFQIMT method, the next generation of IMT real-time measurement, based on the direct analysis of the radiofrequency signal and endowed with high accuracy and reproducibility in early detection of arterial wall thickness. Methods 115 patients (76 men, mean age: 65.1 ± 12 years referred to our department and shown significant (≥ 70% luminal obstruction stenosis at least in one major epicardial coronary artery were studied. Coronary angiograms were divided for severity and extent of the disease: 79 patients (69% had one, 24 patients (21% two, 12 patients (10% three major epicardial coronary arteries with ≥ 70% stenosis. All patients underwent echocardiography and carotid ultrasound examination, assessed by RF. Results Dividing RFQIMT data in tertiles, dyslipidaemia (31 patients with IMT ≥ 1.20 mm vs 16 with IMT = 0.91-1.19 vs 25 with IMT ≤ 0.9, p = 0.004, LVMI (153.5 ± 20.6 g/m2 in IMT ≥ 1.20 mm vs 131.2 ± 8.4 g/m2 in IMT = 0.91-1.19 mm vs 114.3 ± 11.1 g/m2 in IMT ≤ 0.9 mm, P 2 = 0.88, RFQIMT remained significantly associated with the dyslipidemia (regression coefficient ± standard error [SE]: 0.057 ± 0.023; p = 0.017, LVMI (regression coefficient ± SE: 0.01 ± 0.001; P Conclusions RFQIMT is a sophisticated method for carotid ultrasound evaluation. Its evaluation in patients with at least one important major epicardial coronary vessel stenosis would help the accuracy in the general assessment of the number of coronary lesions in these patients.

  16. 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.)

  17. 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.

  18. Anomalous Origin of the Left Coronary Artery from the Right Sinus of Valsalva and Sever Mitral Stenosis

    Science.gov (United States)

    Abdi, Ahmadnoor; Hashemi Fard, Omid

    2011-01-01

    Congenital coronary anomalies are presented in approximately1% of patient referred for cardiac catheterization. Among the congenital coronary anomalies, a separated anomalous origin of all the coronary arteries from the right sinus of valsalva is very uncommon. We report a rare occurance of simultaneous occurence of mitral stenosis with ectopic origin of left main stem coronary artery from right sinus of Valsalva. PMID:22577434

  19. Pre-hospital electrocardiographic severity and acuteness scores predict left ventricular function in patients with ST elevation myocardial infarction

    DEFF Research Database (Denmark)

    Fakhri, Yama; Ersbøll, Mads; Køber, Lars

    2016-01-01

    OBJECTIVES: System delay (time from first medical contact to primary percutaneous coronary intervention) is associated with heart failure and mortality in patients with ST segment elevation myocardial infarction (STEMI). We evaluated the impact of system delay on left ventricular function (LVF...

  20. 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

  1. The Impact of Atrial Left-to-Right Shunt on Pulmonary Hypertension in Preterm Infants with Moderate or Severe Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    Eui Kyung Choi

    2015-10-01

    Conclusion: The presence of an atrial left-to-right shunt was associated with PH in preterm infants with moderate or severe BPD. Close follow up is needed for infants with interatrial shunts, and a more tailored prognostic evaluation and treatment are recommended.

  2. 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...

  3. 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.

  4. [Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring].

    Science.gov (United States)

    Tamayo-Espinosa, Tania; Erdmenger-Orellana, Julio; Becerra-Becerra, Rosario; Balderrabano-Saucedo, Norma; Segura-Standford, Begoña

    The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  5. Transient severe left ventricular dysfunction following percutaneous patent ductus arteriosus closure in an adult with bicuspid aortic valve: A case report

    OpenAIRE

    HWANG, HUI-JEONG; YOON, KYUNG LIM; SOHN, IL SUK

    2016-01-01

    The present study reported the case of a 60-year-old female with patent ductus arteriosus (PDA) and a bicuspid aortic valve, who presented with transient severe left ventricular (LV) dysfunction following percutaneous closure of PDA, as identified by speckle tracking analysis. Transient LV dysfunction following PDA closure has previously been reported; however, severe LV dysfunction is rare. In the present case, the combination of a large PDA size, large amount of shunting, LV remodeling and ...

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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 ...

  20. Calcitriol Supplementation Causes Decreases in Tumorigenic Proteins and Different Proteomic and Metabolomic Signatures in Right versus Left-Sided Colon Cancer.

    Science.gov (United States)

    Schroll, Monica M; Ludwig, Katelyn R; Bauer, Kerry M; Hummon, Amanda B

    2018-01-11

    Vitamin D deficiency is a common problem worldwide. In particular, it is an issue in the Northern Hemisphere where UVB radiation does not penetrate the atmosphere as readily. There is a correlation between vitamin D deficiency and colorectal cancer incidence and mortality. Furthermore, there is strong evidence that cancer of the ascending (right side) colon is different from cancer of the descending (left side) colon in terms of prognosis, tumor differentiation, and polyp type, as well as at the molecular level. Right-side tumors have elevated Wnt signaling and are more likely to relapse, whereas left-side tumors have reduced expression of tumor suppressor genes. This study seeks to understand both the proteomic and metabolomic changes resulting from treatment of the active metabolite of vitamin D, calcitriol, in right-sided and left-sided colon cancer. Our results show that left-sided colon cancer treated with calcitriol has a substantially greater number of changes in both the proteome and the metabolome than right-sided colon cancer. We found that calcitriol treatment in both right-sided and left-sided colon cancer causes a downregulation of ribosomal protein L37 and protein S100A10. Both of these proteins are heavily involved in tumorigenesis, suggesting a possible mechanism for the correlation between low vitamin D levels and colon cancer.

  1. Calcitriol Supplementation Causes Decreases in Tumorigenic Proteins and Different Proteomic and Metabolomic Signatures in Right versus Left-Sided Colon Cancer

    Directory of Open Access Journals (Sweden)

    Monica M. Schroll

    2018-01-01

    Full Text Available Vitamin D deficiency is a common problem worldwide. In particular, it is an issue in the Northern Hemisphere where UVB radiation does not penetrate the atmosphere as readily. There is a correlation between vitamin D deficiency and colorectal cancer incidence and mortality. Furthermore, there is strong evidence that cancer of the ascending (right side colon is different from cancer of the descending (left side colon in terms of prognosis, tumor differentiation, and polyp type, as well as at the molecular level. Right-side tumors have elevated Wnt signaling and are more likely to relapse, whereas left-side tumors have reduced expression of tumor suppressor genes. This study seeks to understand both the proteomic and metabolomic changes resulting from treatment of the active metabolite of vitamin D, calcitriol, in right-sided and left-sided colon cancer. Our results show that left-sided colon cancer treated with calcitriol has a substantially greater number of changes in both the proteome and the metabolome than right-sided colon cancer. We found that calcitriol treatment in both right-sided and left-sided colon cancer causes a downregulation of ribosomal protein L37 and protein S100A10. Both of these proteins are heavily involved in tumorigenesis, suggesting a possible mechanism for the correlation between low vitamin D levels and colon cancer.

  2. 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

  3. 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

  4. 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.

  5. 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.

  6. Termination of dobutamine infusion causes transient rebound left heart diastolic dysfunction in healthy elderly women but not in men

    DEFF Research Database (Denmark)

    Ahtarovski, Kiril A; Iversen, Kasper K; Lønborg, Jacob T

    2013-01-01

    Men and women are known to react differently to stress. Thus, stress cardiomyopathy almost solely strikes women. Stress cardiomyopathy is suggested to relate to sex differences in catecholamine reaction. Left heart function during dobutamine stress is well described, but sex-specific inotropic...... and lusitropic response to abrupt termination of dobutamine stress is not. We aimed to investigate sex differences in left ventricular (LV) and atrial (LA) function during and after dobutamine stress. We enrolled 20 healthy elderly subjects (60-70 yr, 10 females) and measured their LV and LA volumes throughout......, and conduit volumes. Sex differences were not observed at rest or during dobutamine stress. Compared with prestress values, at T15 a rebound decrease in LV peak filling rate was observed in women (-22 ± 3%, P...

  7. 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)

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. Transient severe left ventricular dysfunction following percutaneous patent ductus arteriosus closure in an adult with bicuspid aortic valve: A case report.

    Science.gov (United States)

    Hwang, Hui-Jeong; Yoon, Kyung Lim; Sohn, Il Suk

    2016-03-01

    The present study reported the case of a 60-year-old female with patent ductus arteriosus (PDA) and a bicuspid aortic valve, who presented with transient severe left ventricular (LV) dysfunction following percutaneous closure of PDA, as identified by speckle tracking analysis. Transient LV dysfunction following PDA closure has previously been reported; however, severe LV dysfunction is rare. In the present case, the combination of a large PDA size, large amount of shunting, LV remodeling and bicuspid aortic valve may have induced serious deterioration of LV function following PDA closure. Furthermore, speckle-tracking echocardiography may be useful in the estimation of functional alterations in the myocardium of the LV following PDA closure. The observations detailed in the present study may improve the understanding of the pathophysiology and myocardial patterns of transient left ventricular dysfunction following PDA closure in adult humans.

  13. 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.

  14. 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.

  15. ST Segment Elevation Myocardial Infarction Due to Severe Ostial Left Main Stem Stenosis in a Patient with Syphilitic Aortitis

    Directory of Open Access Journals (Sweden)

    Predescu L.M.

    2016-03-01

    Full Text Available Cardiovascular manifestations of tertiary syphilis infections are uncommon, but represent an important cause of mortality and morbidity. Syphilitic aortitis is characterized by aortic regurgitation, dilatation of ascending aorta and ostial coronary artery lesions.

  16. 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

  17. 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.

  18. Unusual Survival of Anomalous Left Coronary Artery From the Pulmonary Artery With Severe Rheumatic Mitral Stenosis in Septuagenarian Women: Foes Becoming Friends?

    Science.gov (United States)

    Sinha, Santosh Kumar; Khanra, Dibbendhu; Jha, Mukesh Jitendra; Singh, Karandeep; Razi, Mahamdulla; Goel, Amit; Mishra, Vikas; Asif, Mohammad; Sachan, Mohit; Afdaali, Nasar; Kumar, Ashutosh; Thakur, Ramesh; Krishna, Vinay; Pandey, Umeshwar; Varma, Chandra Mohan

    2016-10-01

    ALCAPA syndrome (anomalous origin of the left coronary artery from the pulmonary artery) is a rare disease but lethal with clinical expression from myocardial infarction, congestive heart failure to death during early infancy and unusual survival to adulthood. We report a 73-year-old woman with ALCAPA who presented with exertional dyspnea (NYHA functional class II) over past 2 years. Physical examination revealed soft S, long mid diastolic rumbling murmur and apical pan-systolic murmur. Electrocardiography displayed biatrial enlargement and poor R progression and normal sinus rhythm. Echocardiography established calcified severe mitral stenosis (MS), presence of continuous flow entering the pulmonary trunk, turbulent continuous flow in inter-ventricular septum with left to right shunt in contrast echocardiography and normal systolic function. Coronary angiogram showed absence of left coronary artery (LCA) originating from aorta, dilated and tortuous right coronary artery (RCA) and abundant Rentrop grade 3 intercoronary collateral communicating with LCA originating from pulmonary trunk which was also confirmed on coronary CT angiogram thus establishing diagnosis of ALCAPA. It is exceedingly rare to be associated with severe MS. However, such a long survival in our patient can be explained by the severe pulmonary arterial hypertension which may be contributing to lesser coronary steal.

  19. 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

  20. 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.

  1. 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

  2. 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.)

  3. 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.

  4. 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...

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. Diabetes Mellitus Impairs Left Ventricular Mass Regression after Surgical or Transcatheter Aortic Valve Replacement for Severe Aortic Stenosis.

    Science.gov (United States)

    Nakamura, Teruya; Toda, Koichi; Kuratani, Toru; Miyagawa, Shigeru; Yoshikawa, Yasushi; Fukushima, Satsuki; Saito, Shunsuke; Yoshioka, Daisuke; Kashiyama, Noriyuki; Daimon, Takashi; Sawa, Yoshiki

    2016-01-01

    It is well-documented that persistent myocardial hypertrophy in patients with aortic stenosis is related to suboptimal postoperative outcomes after aortic valve replacement. Although diabetes is known to potentially exacerbate myocardial hypertrophy, it has yet to be examined if it affects postoperative left ventricular mass regression (LVMR). A single-centre, retrospective analysis was performed on 183 consecutive patients who underwent either surgical or transcatheter aortic valve replacement between 2010 and May 2013. Patient demographics, postoperative outcomes and echocardiographic data were obtained preoperatively and a year after surgery. There were 42 diabetic and 141 non-diabetic patients. Preoperative characteristics of diabetic patients were statistically similar to those of non-diabetic patients, except for higher prevalence of hyperlipidaemia (p regression analysis demonstrated that diabetes (standardised partial regression coefficient (SPRC)=-0.187, p=0.018), female gender (SPRC=0.245, p=0.026) and age (SPRC=0.203, p=0.018) were associated with poor postoperative LVMR. Patients with diabetes showed suboptimal postoperative LVMR, and the disease was a prognostic factor that was associated with poor LVMR. These findings suggest that diabetes may predispose the particular group of patients to worse postoperative outcomes. Copyright © 2015 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  11. 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.

  12. 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.

  13. 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.

  14. Comparison of Gated SPECT Myocardial Perfusion Imaging with Echocardiography for the Measurement of Left Ventricular Volumes and Ejection Fraction in Patients With Severe Heart Failure

    Science.gov (United States)

    Shojaeifard, Maryam; Ghaedian, Tahereh; Yaghoobi, Nahid; Malek, Hadi; Firoozabadi, Hasan; Bitarafan-Rajabi, Ahmad; Haghjoo, Majid; Amin, Ahmad; Azizian, Nasrin; Rastgou, Feridoon

    2015-01-01

    Background: Gated single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) is known as a feasible tool for the measurement of left ventricular ejection fraction (EF) and volumes, which are of great importance in the management and follow-up of patients with coronary artery diseases. However, considering the technical shortcomings of SPECT in the presence of perfusion defect, the accuracy of this method in heart failure patients is still controversial. Objectives: The aim of the present study was to compare the results from gated SPECT MPI with those from echocardiography in heart failure patients to compare echocardiographically-derived left ventricular dimension and function data to those from gated SPECT MPI in heart failure patients. Patients and Methods: Forty-one patients with severely reduced left ventricular systolic function (EF ≤ 35%) who were referred for gated SPECT MPI were prospectively enrolled. Quantification of EF, end-diastolic volume (EDV), and end-systolic volume (ESV) was performed by using quantitative gated spect (QGS) (QGS, version 0.4, May 2009) and emory cardiac toolbox (ECTb) (ECTb, revision 1.0, copyright 2007) software packages. EF, EDV, and ESV were also measured with two-dimensional echocardiography within 3 days after MPI. Results: A good correlation was found between echocardiographically-derived EF, EDV, and ESV and the values derived using QGS (r = 0.67, r = 0.78, and r = 0.80 for EF, EDV, and ESV, respectively; P echocardiography. ECTb-derived EDV was also significantly higher than the EDV measured with echocardiography and QGS. The highest correlation between echocardiography and gated SPECT MPI was found for mean values of ESV different. Conclusions: Gated SPECT MPI has a good correlation with echocardiography for the measurement of left ventricular EF, EDV, and ESV in patients with severe heart failure. However, the absolute values of these functional parameters from echocardiography and gated

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. Apraxia in left-handers.

    Science.gov (United States)

    Goldenberg, Georg

    2013-08-01

    In typical right-handed patients both apraxia and aphasia are caused by damage to the left hemisphere, which also controls the dominant right hand. In left-handed subjects the lateralities of language and of control of the dominant hand can dissociate. This permits disentangling the association of apraxia with aphasia from that with handedness. Pantomime of tool use, actual tool use and imitation of meaningless hand and finger postures were examined in 50 consecutive left-handed subjects with unilateral hemisphere lesions. There were three aphasic patients with pervasive apraxia caused by left-sided lesions. As the dominant hand is controlled by the right hemisphere, they constitute dissociations of apraxia from handedness. Conversely there were also three patients with pervasive apraxia caused by right brain lesions without aphasia. They constitute dissociations of apraxia from aphasia. Across the whole group of patients dissociations from handedness and from aphasia were observed for all manifestations of apraxia, but their frequency depended on the type of apraxia. Defective pantomime and defective tool use occurred rarely without aphasia, whereas defective imitation of hand, but not finger, postures was more frequent after right than left brain damage. The higher incidence of defective imitation of hand postures in right brain damage was mainly due to patients who had also hemi-neglect. This interaction alerts to the possibility that the association of right hemisphere damage with apraxia has to do with spatial aptitudes of the right hemisphere rather than with its control of the dominant left hand. Comparison with data from right-handed patients showed no differences between the severity of apraxia for imitation of hand or finger postures, but impairment on pantomime of tool use was milder in apraxic left-handers than in apraxic right-handers. This alleviation of the severity of apraxia corresponded with a similar alleviation of the severity of aphasia as

  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. Left ventricular filling pressure estimation at rest and during exercise in patients with severe aortic valve stenosis: comparison of echocardiographic and invasive measurements

    DEFF Research Database (Denmark)

    Dalsgaard, Morten; Kjaergaard, Jesper; Pecini, Redi

    2009-01-01

    BACKGROUND: The Doppler index of left ventricular (LV) filling (E/e') is recognized as a noninvasive measure for LV filling pressure at rest but has also been suggested as a reliable measure of exercise-induced changes. The aim of this study was to investigate changes in LV filling pressure......, measured invasively as pulmonary capillary wedge pressure (PCWP), at rest and during exercise to describe the relation with E/e' in patients with severe aortic stenosis. METHODS: Twenty-eight patients with an aortic valve areas

  4. Off-pump coronary artery bypass surgery in selected patients is superior to the conventional approach for patients with severely depressed left ventricular function

    Science.gov (United States)

    Caputti, Guido Marco; Palma, José Honório; Gaia, Diego Felipe; Buffolo, Enio

    2011-01-01

    OBJECTIVES: Patients with coronary artery disease and left ventricular dysfunction have high mortality when kept in clinical treatment. Coronary artery bypass grafting can improve survival and the quality of life. Recently, revascularization without cardiopulmonary bypass has been presented as a viable alternative. The aim of this study is to compare patients with left ventricular ejection fractions of less than 20% who underwent coronary artery bypass graft with or without cardiopulmonary bypass. METHODS: From January 2001 to December 2005, 217 nonrandomized, consecutive, and nonselected patients with an ejection fraction less than or equal to 20% underwent coronary artery bypass graft surgery with (112) or without (off-pump) (105) the use of cardiopulmonary bypass. We studied demographic, operative, and postoperative data. RESULTS: There were no demographic differences between groups. The outcome variables showed similar graft numbers in both groups. Mortality was 12.5% in the cardiopulmonary bypass group and 3.8% in the off-pump group. Postoperative complications were statistically different (cardiopulmonary bypass versus off-pump): total length of hospital stay (days)—11.3 vs. 7.2, length of ICU stay (days)—3.7 vs. 2.1, pulmonary complications—10.7% vs. 2.8%, intubation time (hours)—22 vs. 10, postoperative bleeding (mL)—654 vs. 440, acute renal failure—8.9% vs. 1.9% and left-ventricle ejection fraction before discharge—22% vs. 29%. CONCLUSION: Coronary artery bypass grafting without cardiopulmonary bypass in selected patients with severe left ventricular dysfunction is valid and safe and promotes less mortality and morbidity compared with conventional operations. PMID:22189729

  5. Off-pump coronary artery bypass surgery in selected patients is superior to the conventional approach for patients with severely depressed left ventricular function

    Directory of Open Access Journals (Sweden)

    Guido Marco Caputti

    2011-01-01

    Full Text Available OBJECTIVES: Patients with coronary artery disease and left ventricular dysfunction have high mortality when kept in clinical treatment. Coronary artery bypass grafting can improve survival and the quality of life. Recently, revascularization without cardiopulmonary bypass has been presented as a viable alternative. The aim of this study is to compare patients with left ventricular ejection fractions of less than 20% who underwent coronary artery bypass graft with or without cardiopulmonary bypass. METHODS: From January 2001 to December 2005, 217 nonrandomized, consecutive, and nonselected patients with an ejection fraction less than or equal to 20% underwent coronary artery bypass graft surgery with (112 or without (off-pump (105 the use of cardiopulmonary bypass. We studied demographic, operative, and postoperative data. RESULTS: There were no demographic differences between groups. The outcome variables showed similar graft numbers in both groups. Mortality was 12.5% in the cardiopulmonary bypass group and 3.8% in the off-pump group. Postoperative complications were statistically different (cardiopulmonary bypass versus off-pump: total length of hospital stay (days-11.3 vs. 7.2, length of ICU stay (days-3.7 vs. 2.1, pulmonary complications-10.7% vs. 2.8%, intubation time (hours-22 vs. 10, postoperative bleeding (mL-654 vs. 440, acute renal failure-8.9% vs. 1.9% and left-ventricle ejection fraction before discharge-22% vs. 29%. CONCLUSION: Coronary artery bypass grafting without cardiopulmonary bypass in selected patients with severe left ventricular dysfunction is valid and safe and promotes less mortality and morbidity compared with conventional operations.

  6. A Cushing's syndrome patient's severe insomnia and morning blood pressure surge both improved after her left adrenal tumor resection.

    Science.gov (United States)

    Imaizumi, Yuki; Ibaraki, Ai; Asada, Satoshi; Tominaga, Mitsuhiro; Hayashi, Hiroyuki; Tsuchihashi, Takuya; Eguchi, Kazuo; Kario, Kazuomi; Taketomi, Akira

    2016-12-01

    Underlying mechanisms of the elevated risks of hypertension and cardiovascular disease (CVD) in Cushing's syndrome (CS) are unclear. We treated an adult woman with CS because of a cortisol-secreting adrenal tumor. After tumor resection, the 24-h blood pressure (BP) level improved from 156/91 to 131/84 mmHg; the morning BP surprisingly improved from 174/98 to 127/93 mmHg, although we reduced her antihypertensive medication. Her sleep quality (by the Pittsburgh Sleep Quality Index) improved from 7 to 2 points. Disturbed circadian BP rhythm is often observed in CS, but was reported only as altered nocturnal BP fall. This is the first report showing the disappearance of the morning BP surge evaluated by ambulatory BP monitoring with postsurgery sleep quality improvement. Poor-quality sleep, followed by exaggerated morning BP surge may thus be a cause of CS-related cardiovascular events. Sleep quality and BP circadian rhythm evaluations may clarify hypertension and high CVD risk in CS.

  7. 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

  8. 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

  9. [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

  10. 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

  11. 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

  12. Delayed recovery of adipsic diabetes insipidus (ADI) caused by elective clipping of anterior communicating artery and left middle cerebral artery aneurysms.

    Science.gov (United States)

    Tan, Jeffrey; Ndoro, Samuel; Okafo, Uchenna; Garrahy, Aoife; Agha, Amar; Rawluk, Danny

    2016-12-16

    Adipsic diabetes insipidus (ADI) is an extremely rare complication following microsurgical clipping of anterior communicating artery aneurysm (ACoA) and left middle cerebral artery (MCA) aneurysm. It poses a significant challenge to manage due to an absent thirst response and the co-existence of cognitive impairment in our patient. Recovery from adipsic DI has hitherto been reported only once. A 52-year-old man with previous history of clipping of left posterior communicating artery aneurysm 20 years prior underwent microsurgical clipping of ACoA and left MCA aneurysms without any intraoperative complications. Shortly after surgery, he developed clear features of ADI with adipsic severe hypernatraemia and hypotonic polyuria, which was associated with cognitive impairment that was confirmed with biochemical investigations and cognitive assessments. He was treated with DDAVP along with a strict intake of oral fluids at scheduled times to maintain eunatremia. Repeat assessment at six months showed recovery of thirst and a normal water deprivation test. Management of ADI with cognitive impairment is complex and requires a multidisciplinary approach. Recovery from ADI is very rare, and this is only the second report of recovery in this particular clinical setting.

  13. 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.

  14. Successful treatment of an acute infective endocarditis secondary to fish bone penetrating into left atrium caused by Granulicatella adiacens and Candida albicans: A case report.

    Science.gov (United States)

    Tong, Ya Ling; Qu, Ting Ting; Xu, Jia; Chen, Nai Yun; Yang, Mei Fang

    2017-12-01

    Infective endocarditis caused by a foreign body of the upper digestive tract is rare. We report a rare case of Granulicatella adiacens and Candida albicans coinfection acute endocarditis combined with systematic embolization caused by a fish bone from the esophagus penetrating into the left atrium. A 42-year-old woman was admitted to our hospital because of fever, abdominal pain, headache, and right limb weakness. Clinical examination indicated endocarditis and systemic embolisms secondary to a fish bone from the esophagus penetrating into the left atrium. The emergency surgery confirmed the diagnosis. Cultures of blood and vegetation show G adiacens and C albicans. Antimicrobial therapy lasted 6 weeks after surgery. The patient was discharged with excellent condition7 weeks after hospitalization and was well when followed 6 months later. The successful treatment of this patient combines quick diagnosis, timely surgery, and effective antimicrobial regimen. This rare possibility should be kept up in mind in acute infective endocarditis cases. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  15. 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...

  16. 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

  17. 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

  18. 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

  19. 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.

  20. 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...

  1. Mechanical dispersion is associated with poor outcome in heart failure with a severely depressed left ventricular function and bundle branch blocks.

    Science.gov (United States)

    Stankovic, Ivan; Janicijevic, Aleksandra; Dimic, Aleksandra; Stefanovic, Milica; Vidakovic, Radosav; Putnikovic, Biljana; Neskovic, Aleksandar N

    2018-03-01

    Bundle branch blocks (BBB)-related mechanical dyssynchrony and dispersion may improve patient selection for device therapy, but their effect on the natural history of this patient population is unknown. A total of 155 patients with LVEF ≤ 35% and BBB, not treated with device therapy, were included. Mechanical dyssynchrony was defined as the presence of either septal flash or apical rocking. Contraction duration was assessed as time interval from the electrocardiographic R-(Q-)wave to peak longitudinal strain in each of 17 left ventricular segments. Mechanical dispersion was defined as either the standard deviation of all time intervals (dispersion SD ) or as the difference between the longest and shortest time intervals (dispersion delta ). Patients were followed for cardiac mortality during a median period of 33 months. Mechanical dyssynchrony was not associated with survival. More pronounced mechanical dispersion delta was found in patients with dyssynchrony than in those without. In the multivariate regression analysis, patients' functional class, diabetes mellitus and dispersion delta were independently associated with mortality. Mechanical dispersion, but not dyssynchrony, was independently associated with mortality and it may be useful for risk stratification of patients with heart failure (HF) and BBB. Key Messages Mechanical dispersion, measured by strain echocardiography, is associated with poor outcome in heart failure with a severely depressed left ventricular function and bundle branch blocks. Mechanical dispersion may be useful for risk stratification of patients with heart failure and bundle branch blocks.

  2. Prospective assessment of the frequency of low gradient severe aortic stenosis with preserved left ventricular ejection fraction: Critical impact of aortic flow misalignment and pressure recovery phenomenon.

    Science.gov (United States)

    Ringle, Anne; Castel, Anne-Laure; Le Goffic, Caroline; Delelis, François; Binda, Camille; Bohbot, Yohan; Ennezat, Pierre Vladimir; Guerbaai, Raphaëlle A; Levy, Franck; Vincentelli, André; Graux, Pierre; Tribouilloy, Christophe; Maréchaux, Sylvestre

    2018-02-10

    The frequency of paradoxical low-gradient severe aortic stenosis (AS) varies widely across studies. The impact of misalignment of aortic flow and pressure recovery phenomenon on the frequency of low-gradient severe AS with preserved left ventricular ejection fraction (LVEF) has not been evaluated in prospective studies. To investigate prospectively the impact of aortic flow misalignment by Doppler and lack of pressure recovery phenomenon correction on the frequency of low-gradient (LG) severe aortic stenosis (AS) with preserved LVEF. Aortic jet velocities and mean pressure gradient (MPG) were obtained by interrogating all windows in 68 consecutive patients with normal LVEF and severe AS (aortic valve area [AVA] ≤1cm 2 ) on the basis of the apical imaging window alone (two-dimensional [2D] apical approach). Patients were classified as having LG or high-gradient (HG) AS according to MPG 35mL/m 2 or ≤35mL/m 2 , on the basis of the 2D apical approach, the multiview approach (multiple windows evaluation) and AVA corrected for pressure recovery. The proportion of LG severe AS was 57% using the 2D apical approach alone. After the multiview approach and correction for pressure recovery, the proportion of LG severe AS decreased from 57% to 13% (LF-LG severe AS decreased from 23% to 3%; NF-LG severe AS decreased from 34% to 10%). As a result, 25% of patients were reclassified as having HG severe AS (AVA ≤1cm 2 and MPG ≥40mmHg) and 19% as having moderate AS. Hence, 77% of patients initially diagnosed with LG severe AS did not have "true" LG severe AS when the multiview approach and the pressure recovery phenomenon correction were used. Aortic flow misevaluation, resulting from lack of use of multiple windows evaluation and pressure recovery phenomenon correction, accounts for a large proportion of incorrectly graded AS and considerable overestimation of the frequency of LG severe AS with preserved LVEF. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  3. 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.

  4. 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

  5. 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....

  6. 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.

  7. [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.

  8. 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.

  9. 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)

  10. 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.

  11. 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, ...

  12. 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

  13. 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…

  14. 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

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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).

  3. 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.

  4. 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.

  5. 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.

  6. The evaluation of the predictors of left ventricular systolic function improvement in patients with severe aortic stenosis after aortic valve replacement

    Directory of Open Access Journals (Sweden)

    N.V. Ponych

    2017-03-01

    Full Text Available The aim – to evaluate clinical and echocardiographic predictors of the systolic function improvement in patients with aortic stenosis (AS and low left ventricular ejection fraction (LVEF after aortic valve replacement (AVR. Material and methods. One-center study analyzed data received at clinical and instrumental examination of 72 consecutively examined patients with severe aortic stenosis and systolic dysfunction (LVEF less than 45 % selected for AVR with or without coronary artery bypass grafting (CABG. The average age of patients was 62 (lower-upper quartiles 34–79 years. All patients underwent clinical and instrumental investigations, including transthoracic echocardiography and coronary angiography. Patients were retrospectively divided into two groups: 48 (66.76 % patients with left ventricular ejection fraction increased more than 30 % in the early post-surgery period, and 24 (33.3 % – less than 30 %. In 21 (29.2 % patients AVR was combined with CABG. Results. Group of patients with greater growth of LVEF was characterized by lower body mass index (p = 0.016, greater initial signs of heart failure (p = 0.019, less frequent arterial hypertension. In addition, patients with LVEF growth over 30 % had more pronounced decrease of initial EF, greater end-systolic volume (ESV index and changes of some indices of diastolic LV function. The smaller increase in LVEF was associated with greater rate of atrial fibrillation (p = 0.028 and aortic regurgitation I degree (p = 0.012. Conclusions. The median LVEF in patients with AS and systolic dysfunction after AVR increased from 29 to 43 %. Under proper selection of patients with AS and reduced LVEF for surgery more than 30 % improvement of LVEF may be expected at early postoperative period. Critical AS with reduced LVEF, including low-flow, low gradient AS should not be regarded as an independent restriction to AVR.

  7. 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.

  8. N-terminal pro-B-type natriuretic peptide measurement is useful in predicting left ventricular hypertrophy regression after aortic valve replacement in patients with severe aortic stenosis.

    Science.gov (United States)

    Lee, Mirae; Choi, Jin-Oh; Park, Sung-Ji; Kim, Eun Young; Park, PyoWon; Oh, Jae K; Jeon, Eun-Seok

    2015-01-01

    The predictive factors for early left ventricular hypertrophy (LVH) regression after aortic valve replacement (AVR) have not been fully elucidated. This study was conducted to investigate which preoperative parameters predict early LVH regression after AVR. 87 consecutive patients who underwent AVR due to isolated severe aortic stenosis (AS) were analysed. Patients with ejection fraction regression of LVH at the midterm follow-up was determined. In multivariate analysis, including preoperative echocardiographic parameters, only E/e' ratio was associated with midterm LVH regression (OR 1.11, 95% CI 1.01 to 1.22; p=0.035). When preoperative NT-proBNP was added to the analysis, logNT-proBNP was found to be the single significant predictor of midterm LVH regression (OR 2.00, 95% CI 1.08 to 3.71; p=0.028). By receiver operating characteristic curve analysis, a cut-off value of 440 pg/mL for NT-proBNP yielded a sensitivity of 72% and a specificity of 77% for the prediction of LVH regression after AVR. Preoperative NT-proBNP was an independent predictor for early LVH regression after AVR in patients with isolated severe AS.

  9. 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.

  10. 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...

  11. [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.

  12. Sudden death as presenting symptom caused by cardiac primary multicentric left ventricle rhabdomyoma, in an 11-month-old baby. An immunohistochemical study

    Directory of Open Access Journals (Sweden)

    Neri Margherita

    2012-12-01

    Full Text Available Abstract This case report describes a sudden cardiac death in an apparent healthy 11-month-old infant caused by a multifocal cardiac rhabdomyoma. Parents reported that a few days before the child had fallen to the ground getting a little superficial injury to the scalp. The authors hypothesize that it may have been a transient loss of consciousness episode caused by the cardiac tumour. After the gross examination, histological investigation supported by immunohistochemical analysis using antibody anti- Myoglobin, Actin, Vimentin, Desmin, CD34, S-100, Ki-67 was carried out for the diagnosis. Death was attributed to a multifocal cardiac rhabdomyoma, a benign tumour of striated muscle, which has been completely asymptomatic. In particular, one mass filled the entire posterior wall of the left ventricle. The insidious development of benign cardiac tumours also in infants and children is outlined, focusing on the responsible mechanisms of sudden death in such cases and providing a reference for additional study on these subjects. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/7163626988365078

  13. 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)

  14. 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.

  15. 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)

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. [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.

  4. 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

  5. Association of N-terminal pro-brain natriuretic peptide with the severity of coronary artery disease in patients with normal left ventricular ejection fraction.

    Science.gov (United States)

    Wu, Naqiong; Ma, Fenglian; Guo, Yuanlin; Li, Xiaoling; Liu, Jun; Qing, Ping; Xu, Ruixia; Zhu, Chenggang; Jia, Yanjun; Liu, Geng; Dong, Qian; Jiang, Lixin; Li, Jianjun

    2014-01-01

    Backround N-terminal pro-brain natriuretic peptide (NT-proBNP) is a reliable predictor in acute coronary artery disease (CAD). Little is known about patients with stable CAD, especially Chinese patients with CAD. The aim of the present study was to investigate the association of NT-proBNP levels with the severity of CAD in patients with normal left ventricular ejection fraction. A total of 658 consecutive patients were divided into two groups based on angiograms: CAD group (n = 484) and angiographic normal control group (n = 174). The severity of CAD was evaluated by modified Gensini score, and its relationship with NT-proBNP was analyzed. The prevalence of risk factors such as age, male gender, diabetes mellitus (DM), dyslipidemia, smoking, and family history of CAD in the CAD group were higher than that in the control group. In multivariate regression model analysis, age, gender, and DM were determinants of the presence of CAD. NT-pro BNP was found to be an independent predictor for CAD (OR:1.66 (95% CI: 1.06-2.61), P value of 641.15 pmol/L was identified as a cut-off value in the diagnosis or exclusion of CAD (area under curve (AUC) = 0.56, 95% CI: 0.51-0.61). Furthermore, NT-proBNP was positively correlated with Gensini score (r = 0.14, P < 0.001) in patients with CAD. NT-proBNP was an independent predictor for Chinese patients with CAD, suggesting that the NT-proBNP level might be associated with the presence and the severity of CAD.

  6. One-year Outcomes in Patients with ST-segment Elevation Myocardial Infarction Caused by Unprotected Left Main Coronary Artery Occlusion Treated by Primary Percutaneous Coronary Intervention.

    Science.gov (United States)

    Liu, Hai-Wei; Han, Ya-Ling; Jin, Quan-Min; Wang, Xiao-Zeng; Ma, Ying-Yan; Wang, Geng; Wang, Bin; Xu, Kai; Li, Yi; Chen, Shao-Liang

    2018-06-20

    Very few data have been reported for ST-segment elevation myocardial infarction (STEMI) caused by unprotected left main coronary artery (ULMCA) occlusion, and very little is known about the results of this subgroup of patients who underwent primary percutaneous coronary intervention (PCI). The aim of this study was to determine the clinical features and outcomes of patients with STEMI who underwent primary PCI for acute ULMCA occlusion. From January 2000 to February 2014, 372 patients with STEMI caused by ULMCA acute occlusion (ULMCA-STEMI) who underwent primary PCI at one of two centers were enrolled. The 230 patients with non-ST-segment elevation MI (NSTEMI) caused by ULMCA lesion (ULMCA-NSTEMI) who underwent emergency PCI were designated the control group. The main indexes were the major adverse cardiac events (MACEs) in-hospital, at 1 month, and at 1 year. Compared to the NSTEMI patients, the patients with STEMI had significantly higher rates of Killip class≥III (21.2% vs. 3.5%, χ 2 = 36.253, P 0.05) and TVR (all P > 0.05) in the intervals of 0-1 month as well as 1 month to 1 year. The results of Cox regression analysis showed that the differences in the independent predictors for MACE included the variables of Killip class ≥ III and intra-aortic balloon pump support for the STEMI patients and the variables of previous MI, ULMCA distal bifurcation, and 2-stent for distal ULMCA lesions for the NSTEMI patients. Compared to the NSTEMI patients, the patients with STEMI and ULMCA lesions still remain at a much higher risk for adverse events at 1 year, especially on 1 month. If a successful PCI procedure is performed, the 1-year outcomes in those patients might improve.

  7. 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.

  8. 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.

  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. 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

  11. [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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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.

  18. 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.

  19. Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of gene mutation: insights from the novel three dimensional speckle tracking echocardiography.

    Directory of Open Access Journals (Sweden)

    Mohamed Abd El Rahman

    Full Text Available In asymptomatic Marfan syndrome (MFS patients we evaluated the relationship between the types of fibrillin-1 (FBN1 gene mutation and possible altered left ventricular (LV function as assessed by three-dimensional speckle tracking echocardiography (3D-STE.Forty-five MFS patients (mean age 24 ± 15 years and 40 age-matched healthy controls were studied. Genetic evaluation for the FBN1 gene was carried on 32 MFS patients. Gene mutation (n = 15, 47% was classified as mild when the mutation resulted in nearly normally functioning protein, while mutations resulting in abnormally function protein were considered to be severe (n = 17, 53%. All patients and controls underwent 3D-STE for evaluation of LV function by an echocardiographer blinded to the results of the genetic testing. Compared to controls, MFS patients had significantly lower 3D-STE derived LV ejection fraction (EF, 57.43 ± 7.51 vs. 62.69 ± 4.76%, p = 0.0001, global LV longitudinal strain (LS, 14.85 ± 2.89 vs. 17.90 ± 2.01%, p = 0.0001, global LV circumferential strain (CS, 13.93 ± 2.81 vs. 16.82 ± 2.17%, p = 0.0001 and global LV area strain (AS, 25.76 ± 4.43 vs. 30.51 ± 2.61%, p = 0.0001. Apart from the global LV LS all these parameters were significantly lower in patients with severe gene mutation than in those with mild mutation (p < 0.05. In the multivariate linear regression analysis only the type of mutation had a significant influence on the 3D-STE derived LVEF (p = 0.017, global CS (p = 0.005 and global AS (p = 0.03.In asymptomatic MFS patients latent LV dysfunction can be detected using 3D STE. The LV dysfunction is mainly related to the severity of gene mutation, suggesting possible primary cardiomyopathy in MFS patients.

  20. 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)

  1. 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.

  2. 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.

  3. The natural history of new-onset heart failure with a severely depressed left ventricular ejection fraction: implications for timing of implantable cardioverter-defibrillator implantation.

    Science.gov (United States)

    Teeter, William A; Thibodeau, Jennifer T; Rao, Krishnasree; Brickner, M Elizabeth; Toto, Kathleen H; Nelson, Lauren L; Mishkin, Joseph D; Ayers, Colby R; Miller, Justin G; Mammen, Pradeep P A; Patel, Parag C; Markham, David W; Drazner, Mark H

    2012-09-01

    Guidelines recommend that patients with new-onset systolic heart failure (HF) receive a trial of medical therapy before an implantable cardiac defibrillator (ICD). This strategy allows for improvement of left ventricular ejection fraction (LVEF), thereby avoiding an ICD, but exposes patients to risk of potentially preventable sudden cardiac death during the trial of medical therapy. We reviewed a consecutive series of patients with HF of <6 months duration with a severely depressed LVEF (<30%) evaluated in a HF clinic (N = 224). The ICD implantation was delayed with plans to reassess LVEF approximately 6 months after optimization of β-blockers. Mortality was ascertained by the National Death Index. Follow-up echocardiograms were performed in 115 of the 224 subjects. Of these, 50 (43%) had mildly depressed or normal LVEF at follow-up ("LVEF recovery") such that an ICD was no longer indicated. In a conservative sensitivity analysis (using the entire study cohort, whether or not a follow-up echocardiogram was obtained, as the denominator), 22% of subjects had LVEF recovery. Mortality at 6, 12, and 18 months in the entire cohort was 2.3%, 4.5%, and 6.8%, respectively. Of 87 patients who tolerated target doses of β-blockers, only 1 (1.1%) died during the first 18 months. Patients with new-onset systolic HF have both a good chance of LVEF recovery and low 6-month mortality. Achievement of target β-blocker dose identifies a very low-risk population. These data support delaying ICD implantation for a trial of medical therapy. Copyright © 2012 Mosby, Inc. All rights reserved.

  4. 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.

  5. Impact of diastolic dysfunction severity on global left ventricular volumetric filling - assessment by automated segmentation of routine cine cardiovascular magnetic resonance

    Directory of Open Access Journals (Sweden)

    Mendoza Dorinna D

    2010-07-01

    Full Text Available Abstract Objectives To examine relationships between severity of echocardiography (echo -evidenced diastolic dysfunction (DD and volumetric filling by automated processing of routine cine cardiovascular magnetic resonance (CMR. Background Cine-CMR provides high-resolution assessment of left ventricular (LV chamber volumes. Automated segmentation (LV-METRIC yields LV filling curves by segmenting all short-axis images across all temporal phases. This study used cine-CMR to assess filling changes that occur with progressive DD. Methods 115 post-MI patients underwent CMR and echo within 1 day. LV-METRIC yielded multiple diastolic indices - E:A ratio, peak filling rate (PFR, time to peak filling rate (TPFR, and diastolic volume recovery (DVR80 - proportion of diastole required to recover 80% stroke volume. Echo was the reference for DD. Results LV-METRIC successfully generated LV filling curves in all patients. CMR indices were reproducible (≤ 1% inter-reader differences and required minimal processing time (175 ± 34 images/exam, 2:09 ± 0:51 minutes. CMR E:A ratio decreased with grade 1 and increased with grades 2-3 DD. Diastolic filling intervals, measured by DVR80 or TPFR, prolonged with grade 1 and shortened with grade 3 DD, paralleling echo deceleration time (p 80 identified 71% of patients with echo-evidenced grade 1 but no patients with grade 3 DD, and stroke-volume adjusted PFR identified 67% with grade 3 but none with grade 1 DD (matched specificity = 83%. The combination of DVR80 and PFR identified 53% of patients with grade 2 DD. Prolonged DVR80 was associated with grade 1 (OR 2.79, CI 1.65-4.05, p = 0.001 with a similar trend for grade 2 (OR 1.35, CI 0.98-1.74, p = 0.06, whereas high PFR was associated with grade 3 (OR 1.14, CI 1.02-1.25, p = 0.02 DD. Conclusions Automated cine-CMR segmentation can discern LV filling changes that occur with increasing severity of echo-evidenced DD. Impaired relaxation is associated with prolonged

  6. [Three-month rehabilitation of a patient with the III, IV and VI cranial nerve damage caused by a neurosurgery of the left internal carotid artery aneurysm].

    Science.gov (United States)

    Mosiński, Eliasz; Kikowski, Łukasz; Irzmański, Robert

    Introduction: Oculomotor nerve palsy is an eye condition resulting from damage to the third cranial nerve or a branch thereof. Third nerve damage weakens the muscles innervated by the nerve . Also adversely affect the fourth and sixth nerve , causing impairment of their activity. Rehabilitation third nerve palsy is rarely described in the available literature . The whole process is very difficult , but the effects of physiotherapy is very beneficial for the patient. The aim:The assessment of the influence of the outpatient rehabilitation on the patient's condition after a three-month treatment and the use of physical therapy. Material and methods:Case studies of the 38-yerar-old patient after having operated a big aneurism of the left ICA, which was clipped. After the procedure, the III, IV and VI cranial nerves were deeply impaired and the amnesic aphasia occurred. The patient started the rehabilitation a month after the incident. To assess the process of rehabilitation, the own movement examination of the eyeball was implemented. Active and passive exercises, Tigger Point therapy, kinesiotaping, laser and electrostimulation were inserted. Results: The significant improvement of the eyeball movement has been proved on the basis of the same own examination. A physiotherapy has had a positive influence on the speech disorder, namely amnesic aphasia, and after the month of the rehabilitation it has been completely removed. The positive influence of the rehabilitation, which has been pointed out, is clinically essential. Conclusions: Obtained results have not been described in literature yet, that is why it is essential to widen further research and emphasise the importance of the rehabilitation, which is rarely implemented in an intense way in such medical conditions.

  7. Exfoliation of GaAs caused by MeV 1H and 4He ion implantation at left angle 100 right angle , left angle 110 right angle axial and random orientations

    International Nuclear Information System (INIS)

    Rauhala, E.; Raeisaenen, J.

    1994-01-01

    The exfoliation procedure of the ion range determination of gaseous implants in single crystal GaAs is investigated. The correlation of the observed crater depth with the ion range is studied for random, left angle 100 right angle and left angle 110 right angle axial orientation high dose implantations of 1.5-2.5 MeV 1 H and 4 He ions. Depending on the experimental conditions, the crater depths corresponded to range values between the modal range and the range maximum. The observed crater depths could be related to the actual He concentration depth distributions by determining the profiles of the 4 He implants by 2.7 MeV proton backscattering. The implantation parameters affecting the exfoliation process, and especially the increase rate of the sample temperature, are investigated. The range distribution parameters for the 1.5 MeV 4 He implants are presented. ((orig.))

  8. 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.

  9. 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.

  10. Short-term assessment of left ventricular function, coronary hemodynamics, and catecholamine balance in severe congestive heart failure after a single oral dose of milrinone

    NARCIS (Netherlands)

    F. Piscione; B.E. Jaski; P.W.J.C. Serruys (Patrick)

    1988-01-01

    textabstractSystemic and coronary hemodynamics were measured before and every 10 min after oral milrinone (10 mg) administration for 50 min, together with the drug plasma level in 14 patients with congestive heart failure. Left ventricular pressure (tip manometry), volume (angiography), and derived

  11. Prognostic value of systolic mitral annular velocity measured with Doppler tissue imaging in patients with chronic heart failure caused by left ventricular systolic dysfunction

    Science.gov (United States)

    Nikitin, N P; Loh, P H; de Silva, R; Ghosh, J; Khaleva, O Y; Goode, K; Rigby, A S; Alamgir, F; Clark, A L; Cleland, J G F

    2006-01-01

    Objective To assess the prognostic value of various conventional and novel echocardiographic indices in patients with chronic heart failure (CHF) caused by left ventricular (LV) systolic dysfunction. Methods 185 patients with a mean (SD) age of 67 (11) years with CHF and LV ejection fraction < 45% despite optimal pharmacological treatment were prospectively enrolled. The patients underwent two dimensional echocardiography with tissue harmonic imaging to assess global LV systolic function and obtain volumetric data. Transmitral flow was assessed with conventional pulse wave Doppler. Systolic (Sm), early, and late diastolic mitral annular velocities were measured with the use of colour coded Doppler tissue imaging. Results During a median follow up of 32 months (range 24–38 months in survivors), 34 patients died and one underwent heart transplantation. Sm velocity (hazard ratio (HR) 0.648, 95% confidence interval (CI) 0.463 to 0.907, p  =  0.011), diastolic arterial pressure (HR 0.965, 95% CI 0.938 to 0.993, p  =  0.015), serum creatinine (HR 1.006, 95% CI 1.001 to 1.011, p  =  0.023), LV ejection fraction (HR 0.945, 95% CI 0.899 to 0.992, p  =  0.024), age (HR 1.035, 95% CI 1.000 to 1.071, p  =  0.052), LV end systolic volume index (HR 1.009, 95% CI 0.999 to 1.019, p  =  0.067), and restrictive pattern of transmitral flow (HR 0.543, 95% CI 0.278 to 1.061, p  =  0.074) predicted the outcome of death or transplantation on univariate analysis. On multivariate analysis, only Sm velocity (HR 0.648, 95% CI 0.460 to 0.912, p  =  0.013) and diastolic arterial pressure (HR 0.966, 95% CI 0.938 to 0.994, p  =  0.016) emerged as independent predictors of outcome. Conclusions In patients with CHF and LV systolic dysfunction despite optimal pharmacological treatment, the strongest independent echocardiographic predictor of prognosis was Sm velocity measured with quantitative colour coded Doppler tissue

  12. [Anomalous origin of the left coronary artery from the pulmonary trunk with myocardial infarction and severe left ventricular dysfunction in infancy--assessment of myocardial damage using SPECT studies with 201TlCl and 123I-BMIPP].

    Science.gov (United States)

    Miyamoto, T; Horigome, H; Sato, H; Yamada, M; Inai, K; Takeda, T; Ishikawa, N; Hoshino, H; Itai, Y

    1996-02-01

    A 4-month-old male infant with Bland-White-Garland (BWG) syndrome complicated myocardial infarction was reported. Signs included tachypnea, coughing, and failure to thrive. However, there was no sign of myocardial infarction. A chest radiograph revealed cardiomegaly (CTR = 65%) and electrocardiogram showed abnormal Q waves in I, aVL, V6 leads. Cardiac catheterization and angiography revealed marked dilatation of left ventricle (end-diastolic volume = 384 ml/m2) and extremely depressed ejection fraction (16%), confirming the diagnosis of BWG syndrome. A 201TlCl-myocardial SPECT demonstrated apical defect and hypoperfusion in the anterolateral, inferoposterior walls, whereas 123I-beta-methyl-p-iodophenylpentadecanoic-acid (123I-BMIPP) SPECT showed a wider defect area. SPECT studies with 201TlCl and 123I-BMIPP, are useful to assess myocardial viability more accurately in BWG syndrome.

  13. 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.

  14. 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

    During four separate Israeli military attacks on Gaza (2006, 2009, 2012, and 2014), about 4000 Palestinians were killed and more than 17 000 injured (412 killed and 1264 injured in 2006; 1383 killed and more than 5300 injured in 2009; 130 killed and 1399 injured in 2012; and 2251 killed and 11 231 injured in 2014). An unknown number of people had traumatic amputations of one or more extremities. Use of unmanned Israeli drones for surveillance and armed attacks on Gaza was evident, but exact figures on numbers of drone strikes on Gaza are not available. The aim of this study was to explore the medical consequences of strikes on Gaza with different weapons, including drones. We studied a cohort of civilians in the Gaza Strip who had one of more traumatic limb amputation during the Israeli military attacks between 2006 and 2016. The study was done at The Artificial Limb and Polio Center (ALPC) in the Gaza Strip where most patients are treated and trained after amputation. We used standardised forms and validated instruments to record date and mechanism of injury, self-assessed health, socioeconomic status, anatomical location and length of amputation, comorbidity, and the results of a detailed clinical examination. The studied cohort consisted of 254 Paletinian civilians (234 [92%] men, 20 [8%] women, and 43 [17%] children aged 18 years and younger) with traumatic amputations caused by different weapons. 216 (85%) people had amputations proximal to wrist or ankle, 131 (52%) patients had more than one major amputation or an amputation above the knee, or both, and 136 (54%) people were injured in attacks with Israeli drones, including eight (40%) of the women. The most severe amputations were caused by drone attacks (p=0·0001). Extremity injuries after drone attacks led to immediate amputation more often than with other weapons (p=0·014). Patients injured during cease-fire periods were younger than patients injured during periods of declared Israeli military

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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 identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

    Science.gov (United States)

    van de Pol, Laura A; Wolf, Nicole I; van Weissenbruch, Mirjam M; Stam, Cornelie J; Weiss, Janneke M; Waisfisz, Quinten; Kevelam, Sietske H; Bugiani, Mariana; van de Kamp, Jiddeke M; van der Knaap, Marjo S

    2015-12-01

    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 attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. Georg Thieme Verlag KG Stuttgart · New York.

  5. The total right/left-volume index: a new and simplified cardiac magnetic resonance measure to evaluate the severity of Ebstein anomaly of the tricuspid valve: a comparison with heart failure markers from various modalities.

    Science.gov (United States)

    Hösch, Olga; Sohns, Jan Martin; Nguyen, Thuy-Trang; Lauerer, Peter; Rosenberg, Christina; Kowallick, Johannes Tammo; Kutty, Shelby; Unterberg, Christina; Schuster, Andreas; Faßhauer, Martin; Staab, Wieland; Paul, Thomas; Lotz, Joachim; Steinmetz, Michael

    2014-07-01

    The classification of clinical severity of Ebstein anomaly still remains a challenge. The aim of this study was to focus on the interaction of the pathologically altered right heart with the anatomically-supposedly-normal left heart and to derive from cardiac magnetic resonance (CMR) a simple imaging measure for the clinical severity of Ebstein anomaly. Twenty-five patients at a mean age of 26±14 years with unrepaired Ebstein anomaly were examined in a prospective study. Disease severity was classified using CMR volumes and functional measurements in comparison with heart failure markers from clinical data, ECG, laboratory and cardiopulmonary exercise testing, and echocardiography. All examinations were completed within 24 hours. A total right/left-volume index was defined from end-diastolic volume measurements in CMR: total right/left-volume index=(RA+aRV+fRV)/(LA+LV). Mean total right/left-volume index was 2.6±1.7 (normal values: 1.1±0.1). This new total right/left-volume index correlated with almost all clinically used biomarkers of heart failure: brain natriuretic peptide (r=0.691; P=0.0003), QRS (r=0.432; P=0.039), peak oxygen consumption/kg (r=-0.479; P=0.024), ventilatory response to carbon dioxide production at anaerobic threshold (r=0.426; P=0.048), the severity of tricuspid regurgitation (r=0.692; P=0.009), tricuspid valve offset (r=0.583; P=0.004), and tricuspid annular plane systolic excursion (r=0.554; P=0.006). Previously described severity indices ([RA+aRV]/[fRV+LA+LV]) and fRV/LV end-diastolic volume corresponded only to some parameters. In patients with Ebstein anomaly, the easily acquired index of right-sided to left-sided heart volumes from CMR correlated well with established heart failure markers. Our data suggest that the total right/left-volume index should be used as a new and simplified CMR measure, allowing more accurate assessment of disease severity than previously described scoring systems. © 2014 American Heart Association, Inc.

  6. All-cause mortality and major cardiovascular outcomes comparing percutaneous coronary angioplasty versus coronary artery bypass grafting in the treatment of unprotected left main stenosis

    DEFF Research Database (Denmark)

    Laukkanen, Jari A; Kunutsor, Setor K; Niemelä, Matti

    2017-01-01

    Objective: We compared percutaneous coronary intervention (PCI) with coronary artery bypass grafting (CABG) for the treatment of left main coronary artery (LMCA) disease by conducting a systematic review and meta-analysis of randomised controlled trials (RCTs). Methods: RCTs of PCI versus CABG in...

  7. Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).

    Science.gov (United States)

    Kühl, J S; Schwarz, K; Münch, A; Schmugge, M; Pekrun, A; Meisel, C; Wahn, V; Ebell, W; von Bernuth, H

    2011-03-01

    Adenosin deaminase (ADA) deficiency is the cause for Severe Combined Immunodeficiency (SCID) in about 15% of patients with SCID, often presenting as T (-)B (-)NK (-)SCID. Treatment options for ADA-SCID are enzyme replacement, bone marrow transplantation or gene therapy. We here describe the first patient with ADA-SCID and fatal hepatic failure despite bone marrow transplantation from a 10/10 HLA identical related donor. As patients with ADA-SCID may be at yet underestimated increased risk for rapid hepatic failure we speculate whether hepatitis in ADA-SCID should lead to the immediate treatment with enzyme replacement by pegylated ADA. © Georg Thieme Verlag KG Stuttgart · New York.

  8. Research on waterhammer caused by a rapid gas production in the severe accident of a light water reactor

    International Nuclear Information System (INIS)

    Inasaka, Fujio; Adachi, Masaki; Shiozaki, Kohki; Aya, Izuo; Nariai, Hideki

    2004-01-01

    In the severe accident of an LWR (Light Water Reactor), it is supposed that a large quantity of gas is generated in a water pool of the containment vessel due to a water-metal reaction or a steam explosion. A rapid bubble growth, if the water mass is pushed up having a coherency in time and direction in its movement, would give a severe waterhammer to the structure. In this study, we conducted experiments using two cylindrical model containment vessels with 1.0 and 0.428 m diameters, and investigated the behavior of water mass pushed up by a growing bubble and the scale effect of this phenomenon. In addition, we also closely observed the heavier of a growing bubble. In these experiments, a rapid bubble growth was simulated by injecting high-pressure air into a water pool. It was observed that the water mass was pushed up without an air penetration until the water level reached a certain elevation. On the basis of all data, experimental correlations which gave a rise distance or velocity of the water mass with coherency were proposed and the waterhammer pressure which affected the structure was quantitatively evaluated. The applicability of the existing two-phase flow numerical analysis code, RELAP5-3D to the waterhammer phenomenon caused by a rapid gas production was also verified. (author)

  9. Identification of Pulmonary Hypertension Caused by Left-Sided Heart Disease (World Health Organization Group 2) Based on Cardiac Chamber Volumes Derived From Chest CT Imaging.

    Science.gov (United States)

    Aviram, Galit; Rozenbaum, Zach; Ziv-Baran, Tomer; Berliner, Shlomo; Topilsky, Yan; Fleischmann, Dominik; Sung, Yon K; Zamanian, Roham T; Guo, Haiwei Henry

    2017-10-01

    Evaluations of patients with pulmonary hypertension (PH) commonly include chest CT imaging. We hypothesized that cardiac chamber volumes calculated from the same CT scans can yield additional information to distinguish PH related to left-sided heart disease (World Health Organization group 2) from other PH subtypes. Patients who had PH confirmed by right heart catheterization and contrast-enhanced chest CT studies were enrolled in this retrospective multicenter study. Cardiac chamber volumes were calculated using automated segmentation software and compared between group 2 and non-group 2 patients with PH. This study included 114 patients with PH, 27 (24%) of whom were classified as group 2 based on their pulmonary capillary wedge pressure. Patients with group 2 PH exhibited significantly larger median left atrial (LA) volumes (118 mL vs 63 mL; P volumes (90 mL vs 76 mL; P = .02), and smaller median right ventricular (RV) volumes (173 mL vs 210 mL; P = .005) than did non-group 2 patients. On multivariate analysis adjusted for age, sex, and mean pulmonary arterial pressure, group 2 PH was significantly associated with larger median LA and LV volumes (P volume ratios of RA/LA, RV/LV, and RV/LA (P = .001, P = .004, and P volumes demonstrated a high discriminatory ability for group 2 PH (area under the curve, 0.92; 95% CI, 0.870-0.968). Volumetric analysis of the cardiac chambers from nongated chest CT scans, particularly with findings of an enlarged left atrium, exhibited high discriminatory ability for identifying patients with PH due to left-sided heart disease. Copyright © 2017. Published by Elsevier Inc.

  10. [A case of combined sensation disturbance and clumsiness of the left hand caused by an infarction localized to brodmann areas 1 and 2].

    Science.gov (United States)

    Kutoku, Yumiko; Hagiwara, Hiroki; Ichikawa, Yaeko; Takeda, Katsuhiko; Sunada, Yoshihide

    2007-04-01

    A 70-year-old woman was admitted to our hospital with a complaint of numbness and clumsiness of the left hand. On physical examination 23 days after the onset of cerebral infarction, she showed no apparent muscle weakness. Although her elementary somatosensory function was mostly intact with a minimal joint position sensation disturbance, she showed disturbances in tactile recognition, two-point discrimination, and weight perception. She also had difficulty in discrete finger movement of her left hand, especially when her eyes were closed. Brain MRI disclosed a small infarction localized to Brodmann areas 1 and 2 in the right postcentral gyrus. In the left median nerve short-latency somatosensory evoked potentials (s-SEPs), the N20 potential was normally evoked. This finding also indicated that the area 3b was preserved. The sensory symptoms observed in this patient were compatible with the hierarchical somatosensory processing model in the postcentral gyrus proposed by Iwamura et al, in which the elementary sensation recognized in area 3 is transferred to areas 1 and 2, and then processed to discriminative sensation. The disturbed discrete finger movement in this patient probably resulted from impaired tactile recognition which could be compensated for by visual information.

  11. The impact of age on the postoperative response of the diastolic function and left ventricular mass regression after surgical or transcatheter aortic valve replacement for severe aortic stenosis.

    Science.gov (United States)

    Nakamura, Teruya; Toda, Koichi; Kuratani, Toru; Miyagawa, Shigeru; Yoshikawa, Yasushi; Fukushima, Satsuki; Saito, Shunsuke; Sawa, Yoshiki

    2017-06-01

    We examined the impact of advanced age on left ventricular mass regression and the change in the diastolic function after aortic valve replacement in patients with aortic stenosis. The present study included 129 patients who underwent either surgical or transcatheter aortic valve replacement and 1-year postoperative echocardiography. The patient characteristics and echocardiographic findings were compared between patients who were regression was significantly greater (p = 0.02) and diastolic dysfunction was less prevalent in group Y (p = 0.02) in comparison to group O. The change in E/e' was significantly correlated with the left ventricular mass regression in group Y (p = 0.02), but not in Group O (p = 0.21). The patients in group O were less susceptible to improvements in myocardial remodeling and the diastolic function in comparison to those in group Y. The altered physiological response to aortic valve replacement might help to determine the appropriate timing of surgery in elderly patients.

  12. [Nordic accident classification system used in the Danish National Hospital Registration System to register causes of severe traumatic brain injury].

    Science.gov (United States)

    Engberg, Aase Worsaa; Penninga, Elisabeth Irene; Teasdale, Thomas William

    2007-11-05

    The purpose was to illustrate the use of the accident classification system worked out by the Nordic Medico-Statistical Committee (NOMESCO). In particular, registration of causes of severe traumatic brain injury according to the system as part of the Danish National Hospital Registration System was studied. The study comprised 117 patients with very severe traumatic brain injury (TBI) admitted to the Brain Injury Unit of the University Hospital in Hvidovre, Copenhagen, from 1 October 2000 to 30 September 2002. Prospective NOMESCO coding at discharge was compared to independent retrospective coding based on hospital records, and to coding from other wards in the Danish National Hospital Registration System. Furthermore, sets of codes in the Danish National Hospital Registration System for consecutive admissions after a particular accident were compared. Identical results of prospective and independent retrospective coding were found for 65% of 588 single codes, and complete sets of codes for the same accident were identical only in 28% of cases. Sets of codes for the first admission in a hospital course corresponded to retrospective coding at the end of the course in only 17% of cases. Accident code sets from different wards, based on the same injury, were identical in only 7% of cases. Prospective coding by the NOMESCO accident classification system proved problematic, both with regard to correctness and completeness. The system--although logical--seems too complicated compared to the resources invested in the coding. The results of this investigation stress the need for better management and for better instruction to those who carry out the registration.

  13. Effect of mobilization of bone marrow stem cells by granulocyte colony stimulating factor on clinical symptoms, left ventricular perfusion and function in patients with severe chronic ischemic heart disease

    DEFF Research Database (Denmark)

    Wang, Yongzhong; Tägil, Kristina; Ripa, Rasmus S.

    2005-01-01

    . Myocardial perfusion was unchanged at adenosine stress single photon emission computerized tomography (SPECT) or magnetic resonance images (MRI). Left ventricular ejection fraction decreased from 57% to 52% (p... with echocardiography. CONCLUSIONS: Treatment by G-CSF improved symptoms but not signs of myocardial ischemia in patients with severe IHD. The effects seemed related to mobilization of stem cells. An adverse effect on ejection fraction could not be excluded...

  14. An outbreak of severe infections among Australian infants caused by a novel recombinant strain of human parechovirus type 3.

    Science.gov (United States)

    Nelson, Tiffanie M; Vuillermin, Peter; Hodge, Jason; Druce, Julian; Williams, David T; Jasrotia, Rekha; Alexandersen, Soren

    2017-03-14

    Human parechovirus types 1-16 (HPeV1-16) are positive strand RNA viruses in the family Picornaviridae. We investigated a 2015 outbreak of HPeV3 causing illness in infants in Victoria, Australia. Virus genome was extracted from clinical material and isolates and sequenced using a combination of next generation and Sanger sequencing. The HPeV3 outbreak genome was 98.7% similar to the HPeV3 Yamagata 2011 lineage for the region encoding the structural proteins up to nucleotide position 3115, but downstream of that the genome varied from known HPeV sequences with a similarity of 85% or less. Analysis indicated that recombination had occurred, may have involved multiple types of HPeV and that the recombination event/s occurred between March 2012 and November 2013. However the origin of the genome downstream of the recombination site is unknown. Overall, the capsid of this virus is highly conserved, but recombination provided a different non-structural protein coding region that may convey an evolutionary advantage. The indication that the capsid encoding region is highly conserved at the amino acid level may be helpful in directing energy towards the development of a preventive vaccine for expecting mothers or antibody treatment of young infants with severe disease.

  15. Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

    Science.gov (United States)

    Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine

    2017-09-01

    To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. New clinical cases and review. Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Diagnostic and review of the literature. Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment.

  16. Successful use of N-acetylcysteine to treat severe hepatic injury caused by a dietary fitness supplement.

    Science.gov (United States)

    El Rahi, Cynthia; Thompson-Moore, Nathaniel; Mejia, Patricia; De Hoyos, Patricio

    2015-06-01

    In the absence of adequate premarketing efficacy and safety evaluations, adverse events from over-the-counter supplements are emerging as a public health concern. Specifically, bodybuilding products are being identified as a frequent cause of drug-induced liver injury. We present a case of a 20-year-old Hispanic male who presented with acute nausea and vomiting accompanied by severe right upper quadrant abdominal pain, shivering, and shortness of breath. Laboratory data pointed to mixed cholestatic and hepatocellular damage, and after exclusion of known alternate etiologies, the patient was diagnosed with acute drug-induced liver injury secondary to the use of "Friction," a bodybuilding supplement. Treatment with N-acetylcysteine (NAC) 20% oral solution was initiated empirically at a dose of 4000 mg [DOSAGE ERROR CORRECTED] (70 mg/kg) every 4 hours and was continued once the diagnosis was made. Within 48 hours of admission to our hospital, the patient began to show clinical resolution of right abdominal pain and tolerance to oral diet associated with a significant decline toward normal in his liver function tests and coagulopathy. The WHO-UMC causality assessment system suggested a "certain causality" between exposure to the supplement and the acute liver injury. In the event of suspected drug-induced liver injury, treatment with NAC should be considered given its favorable risk-benefit profile. © 2015 Pharmacotherapy Publications, Inc.

  17. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

    Directory of Open Access Journals (Sweden)

    Neal Sondheimer

    2017-09-01

    Full Text Available Coenzyme Q10 (CoQ10 or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10–dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis. To date, mutations in COQ1 (PDSS1 and PDSS2, COQ2, COQ4, COQ6, COQ7, COQ8A/ADCK3, COQ8B/ADCK4, and COQ9 genes have been identified in patients with primary form of CoQ10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ10 deficiency.

  18. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

    Science.gov (United States)

    Sondheimer, Neal; Hewson, Stacy; Cameron, Jessie M; Somers, Gino R; Broadbent, Jane Dunning; Ziosi, Marcello; Quinzii, Catarina Maria; Naini, Ali B

    2017-09-01

    Coenzyme Q 10 (CoQ 10 ) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ 10 synthesis are usually associated with the impaired function of CoQ 10 -dependent complexes I, II and III. The recessively transmitted CoQ 10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ 10 biosynthesis. To date, mutations in COQ1 ( PDSS1 and PDSS2 ), COQ2 , COQ4 , COQ6 , COQ7 , COQ8A / ADCK3 , COQ8B/ADCK4 , and COQ9 genes have been identified in patients with primary form of CoQ 10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ 10 deficiency.

  19. Right ventricular longitudinal strain and right ventricular stroke work index in patients with severe heart failure: left ventricular assist device suitability for transplant candidates.

    Science.gov (United States)

    Cameli, M; Bernazzali, S; Lisi, M; Tsioulpas, C; Croccia, M G; Lisi, G; Maccherini, M; Mondillo, S

    2012-09-01

    Right ventricular (RV) systolic function has a critical role in determining the clinical outcome and the success of using left ventricular assist devices in patients with refractory heart failure. RV deformation analysis by speckle tracking echocardiography (STE) has recently allowed the analysis of RV longitudinal function. Using cardiac catheterization as the reference standard, this study aimed to explore the correlation between RV longitudinal function by STE and RV stroke work index (RVSWI) among patients referred for cardiac transplantation. Right heart catheterization and transthoracic echo-Doppler were simultaneously performed in 47 patients referred for cardiac transplant assessment due to refractory heart failure (ejection fraction 25.1 ± 4.5%). Thermodilution RV stroke volume and invasive pulmonary pressures were used to obtain RVSWI. RV longitudinal strain (RVLS) by STE was assessed averaging RV free-wall segments (free-wall RVLS). We also calculated. Tricuspid S' and tricuspid annular plane systolic excursion (TAPSE). No significant correlation was observed for TAPSE on tricuspid S' with RV stroke volume (r = 0.14 and r = 0.06, respectively). A close negative correlation between free-wall RVLS and RVSWI was found (r = -0.82; P rights reserved.

  20. Voluntary exercise and testosterone therapy caused increase in percentage of Myh6 and expression of oxidative stress marker Cybb in left ventricles of rats

    Directory of Open Access Journals (Sweden)

    Radik M.

    2016-09-01

    Full Text Available Aim: The aim of this study is to identify a possible damage to heart ventricles caused by supraphysiological doses of testosterone, voluntary physical activity or their combination.

  1. Decreased Left Caudate Volume Is Associated with Increased Severity of Autistic-Like Symptoms in a Cohort of ADHD Patients and Their Unaffected Siblings

    Science.gov (United States)

    O’Dwyer, Laurence; Tanner, Colby; van Dongen, Eelco V.; Greven, Corina U.; Bralten, Janita; Zwiers, Marcel P.; Franke, Barbara; Heslenfeld, Dirk; Oosterlaan, Jaap; Hoekstra, Pieter J.; Hartman, Catharina A.; Groen, Wouter; Rommelse, Nanda; Buitelaar, Jan K.

    2016-01-01

    Autism spectrum disorder (ASD) symptoms frequently occur in individuals with attention-deficit/hyperactivity disorder (ADHD). While there is evidence that both ADHD and ASD have differential structural brain correlates, knowledge of the structural brain profile of individuals with ADHD with raised ASD symptoms is limited. The presence of ASD-like symptoms was measured by the Children's Social Behavior Questionnaire (CSBQ) in a sample of typically developing controls (n = 154), participants with ADHD (n = 239), and their unaffected siblings (n = 144) between the ages of 8 and 29. Structural magnetic resonance imaging (MRI) correlates of ASD ratings were analysed by studying the relationship between ASD ratings and grey matter volumes using mixed effects models which controlled for ADHD symptom count and total brain volume. ASD ratings were significantly elevated in participants with ADHD relative to controls and unaffected siblings. For the entire group (participants with ADHD, unaffected siblings and TD controls), mixed effect models revealed that the left caudate nucleus volume was negatively correlated with ASD ratings (t = 2.83; P = 0.005). The current findings are consistent with the role of the caudate nucleus in executive function, including the selection of goals based on the evaluation of action outcomes and the use of social reward to update reward representations. There is a specific volumetric profile associated with subclinical ASD-like symptoms in participants with ADHD, unaffected siblings and controls with the caudate nucleus and globus pallidus being of critical importance in predicting the level of ASD-like symptoms in all three groups. PMID:27806078

  2. The effects of cinacalcet treatment on bone mineral metabolism, anemia parameters, left ventricular mass index and parathyroid gland volume in hemodialysis patients with severe secondary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Dilek Torun

    2016-01-01

    Full Text Available The aim of this study was to investigate the effects of cinacalcet therapy on anemia parameters, bone mineral metabolism, left ventricular mass index (LVMI and parathyroid gland volume in hemodialysis (HD patients with secondary hyperparathyroidism. Twenty-five HD patients (M/F: 11/14, mean age: 45.2 ± 17.9 years, mean HD duration: 96.4 ± 32.7 months were included in this prospective pilot study. The indication to start calcimimetic therapy was persistent serum levels of parathyroid hormone (PTH >1000 pg/mL, refractory to intravenous (i.v. vitamin D and phosphate-binding therapy. The initial and one-year results of adjusted serum calcium (Ca +2 , phosphate (P, Ca × P product, PTH, hemoglobin (Hb and ferritin levels, transferrin saturation index (TSAT, median weekly erythropoietin (EPO dose, LVMI, and parathyroid volume by parathyroid ultrasonography were determined. There were no differences between pre- and post-treatment levels of serum Ca +2 (P = 0.853, P (P = 0.447, Ca × P product (P = 0.587, PTH (P = 0.273, ferritin (P = 0.153 and TSAT (P = 0.104. After 1 year of calcimimetic therapy, the Hb levels were significantly higher than the initial levels (P = 0.048. The weekly dose of EPO decreased with no statistical significance. The dose of cinacalcet was increased from 32.4 ± 12.0 to 60.0 ± 24.4 mg/day (P = 0.01. There were no differences between the pre- and post-treatment results regarding weekly vitamin D dose, parenteral iron dose, LVMI and parathyroid volume. The results of our study suggest that cinacalcet therapy might have an additional benefit in the control anemia in HD patients.

  3. Poliartritis y tenosinovitis grave por Streptococcus agalactiae en un paciente con hipoesplenia funcional Severe polyarthritis and tenosynovitis caused by Streptococcus agalactiae in a patient with functional hyposplenia

    Directory of Open Access Journals (Sweden)

    Domingo C. Balderramo

    2002-08-01

    Full Text Available La artritis por Streptococcus agalactiae es infrecuente. No conocemos publicaciones de casos sobre la afección tendinosa por este microorganismo. Se presenta una mujer de 46 años que consultó por fiebre, poliartralgias, mialgias, diarrea y vómitos. Como antecedentes presentaba carcinoma papilar de tiroides e hipoesplenia funcional. Al examen se encontraba hemodinámicamente inestable, febril, con artritis de mano izquierda, muñecas, codos, hombro derecho y tobillo izquierdo. Presentaba tenosinovitis en ambos pies y en la mano izquierda. Los hemocultivos y el cultivo de la bursa olecraniana derecha fueron positivos para S. agalactiae. La ecografía mostró signos de tenosinovitis del tibial anterior izquierdo. Completó 20 días de tratamiento endovenoso con cefazolina y 12 días de cefuroxima oral. El cuadro articular revirtió completamente en 60 días. El Streptococcus agalactiae puede causar, en forma infrecuente, un síndrome de poliartritis, tenosinovitis y fiebre similar al producido por la infección gonocócica.Cases of arthritis caused by Streptococcus agalactiae are infrequent and in our knowledge there are no case reports of tenosynovitis caused by S. agalactiae. A 46-year-old woman presented with fever, polyarthralgia, myalgia, diarrhea and vomiting. She had a history of papillary thyroid carcinoma and functional hyposplenia. She was febrile, with arthritis in hands, wrists, elbows, right shoulder and left ankle joints, and presented tenosynovitis in both feet and left hand. Blood and right olecranon bursa sample cultures were positive for S. agalactiae. An ultrasound scan made at the musculus tibialis anterior of left foot revealed signs of tenosynovitis. She was treated with intravenous cefazolin for 20 days and oral cefuroxime for 12 days. The joint involvement completely subsided in 60 days. Streptococcus agalactiae can cause, infrequently, a polyarthritis and tenosynovitis syndrome similar to disseminated gonococcal

  4. Age and stress as determinants of the severity of hyperthyroidism caused by Graves' disease in newly diagnosed patients

    NARCIS (Netherlands)

    Vos, Xander G.; Smit, Natalie; Endert, Erik; Brosschot, Jos F.; Tijssen, Jan G. P.; Wiersinga, Wilmar M.

    2009-01-01

    Objective: The evidence that stress may provoke Graves' hyperthyroidism in genetically susceptible subjects is substantial. Whether exposure to stress is related to the severity of thyrotoxicosis has not been studied. Advancing age is associated with not only less severe Graves' hyperthyroidism but

  5. Higher Total Serum Cholesterol Levels Are Associated With Less Severe Strokes and Lower All-Cause Mortality

    DEFF Research Database (Denmark)

    Olsen, Tom Skyhøj; Christensen, Rune Haubo Bojesen; Kammersgaard, Lars

    2007-01-01

    Background and Purpose - Evidence of a causal relation between serum cholesterol and stroke is inconsistent. We investigated the relation between total serum cholesterol and both stroke severity and poststroke mortality to test the hypothesis that hyperch....

  6. Age and stress as determinants of the severity of hyperthyroidism caused by Graves' disease in newly diagnosed patients.

    Science.gov (United States)

    Vos, Xander G; Smit, Natalie; Endert, Erik; Brosschot, Jos F; Tijssen, Jan G P; Wiersinga, Wilmar M

    2009-02-01

    The evidence that stress may provoke Graves' hyperthyroidism in genetically susceptible subjects is substantial. Whether exposure to stress is related to the severity of thyrotoxicosis has not been studied. Advancing age is associated with not only less severe Graves' hyperthyroidism but also self-reported stress. We tested the hypothesis whether advancing age is associated with less exposure to stress, resulting in a lower immunological response, and less severe Graves' hyperthyroidism. Cross-sectional multicenter study. Two hundred and sixty-three consecutive untreated patients with a first episode of Graves' hyperthyroidism were included. The severity of Graves' hyperthyroidism was evaluated biochemically (freeT(4)-index and freeT(3)-index, thyrotropin-binding inhibitory immunoglobulin (TBII)) and clinically by the hyperthyroid symptom scale score (HSS score). Stress exposure was quantitated by three questionnaires. Advancing age was associated with less severe Graves' hyperthyroidism, both biochemically by lower serum freeT(3)-index and freeT(4)-index (Phyperthyroidism. Advancing age was associated with lower scores for stress exposure. Multivariate regression analysis showed that HSS score was independently related to the tendency to report negative feelings (Phyperthyroidism. Because no direct relationship exists between stress exposure and TBII or freeT(3)-index and freeT(4)-index, we reject our hypothesis that less stress is causally related to biochemically less severe Graves' hyperthyroidism in old age. HSS score is primarily determined by negative feelings and not by age.

  7. Evaluation of the Incidence and Severity of Olive Leaf Spot caused by Spilocaea oleaginain different olive cultivars in Palestine

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    Ruba Abuamsha

    2013-12-01

    Full Text Available Twelve olive (Olea europaea L. cultivars including Nabali Baladi, Nabali Mohassan, Santa Augustino, Nasohi Jaba`a 1, Nasohi Jaba`a 2, Yunani, Talmasani, Chemlali, Arbequino, Frantoio, Coca and Barouni, were sampled for their susceptibility to Spilocaea oleagina the causal agent for Olive leaf spot (OLS disease on olive trees in Palestine. Investigations were carried out to measure the incidence and severity of the disease at Qabatyia station in Jenin district area Susceptible olive cultivars grown commercially in Palestine include Arbequino, Frantoio and ?Barouni’.The “Nabali” is the most dominant and highly susceptible olive cultivar grown in Palestine. Disease incidence varied greatly among the cultivars F=59.4, df=11, 251, p?0.0001 and was correlated with the severity (y = 0.42x + 9.3, P ? 0.0001, R² = 0.84, y = disease severity and x = disease incidence. Disease severity also varied among different cultivars F=13.9, df=11, 251, p?0.0001. Nabali Mohassan was the most affected susceptible while Barouni was most resistant. Progress of disease severity over time fit the logistic function for all cultivars except for highly susceptible cultivars F=1.56, df=6, 83, p?0.169. The assessment method may be useful to screen olive cultivars for OLS resistance in Palestine.

  8. Prevalence and causes of severe visual impairment and blindness among children in the lorestan province of iran, using the key informant method.

    Science.gov (United States)

    Razavi, Hessom; Kuper, Hannah; Rezvan, Farhad; Amelie, Khatere; Mahboobi-Pur, Hassan; Oladi, Mohammad Reza; Muhit, Mohammad; Hashemi, Hassan

    2010-03-01

    To estimate the prevalence and causes of severe visual impairment and blindness among children in Lorestan province of Iran, and to assess the feasibility of the Key Informant Method in this setting. Potential cases were identified using the Key Informant Method, in 3 counties of Lorestan province during June through August 2008, and referred for examination. Causes of severe visual impairment/blindness were determined and categorized using standard World Health Organization methods. Of 123 children referred for examination, 27 children were confirmed to have severe visual impairment/blindness or blindness. The median age was11 years (interquartile range 6-13), and 59% were girls. After adjusting for non-attenders, the estimated prevalence of severe visual impairment/blindness was 0.04% (0.03-0.05). The main site of abnormality was retina (44%), followed by disorders of the whole eye (33%). The majority of causes had a hereditary etiology (70%), which was associated with a family history of blindness (P = 0.002). Potentially avoidable causes of severe visual impairment/blindness were found in 14 children (52%). Almost all children with severe visual impairment/blindness had a history of parental consanguinity (93%). Our findings suggest a moderate prevalence of childhood blindness in the Lorestan province of Iran, a high proportion of which may be avoidable, given improved access to ophthalmic and genetic counselling services in rural areas. The Key Informant Method is feasible in Iran; future research is discussed.

  9. Sensory Neuronopathy Revealing Severe Vitamin B12 Deficiency in a Patient with Anorexia Nervosa: An Often-Forgotten Reversible Cause

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    Jérôme Franques

    2017-03-01

    Full Text Available Vitamin B12 (B12 deficiency is known to be associated with various neurological manifestations. Although central manifestations such as dementia or subacute combined degeneration are the most classic, neurological manifestations also include sensory neuropathies. However, B12 deficiency is still rarely integrated as a potential cause of sensory neuronopathy. Moreover, as many medical conditions can falsely normalize serum B12 levels even in the context of a real B12 deficiency, some cases may easily remain underdiagnosed. We report the illustrating case of an anorexic patient with sensory neuronopathy and consistently normal serum B12 levels. After all classical causes of sensory neuronopathy were ruled out, her clinical and electrophysiological conditions first worsened after folate administration, but finally improved dramatically after B12 administration. B12 deficiency should be systematically part of the etiologic workup of sensory neuronopathy, especially in a high risk context such as anorexia nervosa.

  10. Anesthetic management of a patient with sustained severe metabolic alkalosis and electrolyte abnormalities caused by ingestion of baking soda.

    Science.gov (United States)

    Soliz, Jose; Lim, Jeffrey; Zheng, Gang

    2014-01-01

    The use of alternative medicine is prevalent worldwide. However, its effect on intraoperative anesthetic care is underreported. We report the anesthetic management of a patient who underwent an extensive head and neck cancer surgery and presented with a severe intraoperative metabolic alkalosis from the long term ingestion of baking soda and other herbal remedies.

  11. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

    NARCIS (Netherlands)

    Schröder, J. M.; Hackel, V.; Wanders, R. J. A.; Göhlich-Ratmann, G.; Voit, T.

    2004-01-01

    The clinical, neuroradiological, neuropathological and biochemical findings in a patient with optico-cochleo-dentate degeneration (OCDD; OMIM 258700) are presented in a severe case succumbing at the age of 4 years. The electron microscopic and biochemical data showed for the first time that OCDD may

  12. Anesthetic Management of a Patient with Sustained Severe Metabolic Alkalosis and Electrolyte Abnormalities Caused by Ingestion of Baking Soda

    Directory of Open Access Journals (Sweden)

    Jose Soliz

    2014-01-01

    Full Text Available The use of alternative medicine is prevalent worldwide. However, its effect on intraoperative anesthetic care is underreported. We report the anesthetic management of a patient who underwent an extensive head and neck cancer surgery and presented with a severe intraoperative metabolic alkalosis from the long term ingestion of baking soda and other herbal remedies.

  13. HLA-B*44 Is Associated with Dengue Severity Caused by DENV-3 in a Brazilian Population

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    Liciana Xavier Eurico de Alencar

    2013-01-01

    Full Text Available Human leukocyte antigen (HLA alleles have been correlated with susceptibility or resistance to severe dengue; however, few immunogenetic studies have been performed in Latin American (LA populations. We have conducted immunogenetic studies of HLA class I and II alleles in a cohort of 187 patients with DENV-3 infection and confirmed clinical diagnosis of either severe dengue, known as dengue hemorrhagic fever (DHF, or the less severe form, dengue fever (DF, in Recife, Pernambuco, Brazil. An association analysis was performed using Fisher’s association test, with odds ratios (ORs calculated using conditional maximum likelihood estimates. HLA-B*44 (P=0.047, OR = 2.025, 95% CI = 0.97–4.24 was found to be associated with increased susceptibility to DHF in response to DENV-3 infection. In addition, HLA-B*07 (P=0.048, OR = 0.501, one-sided 95% CI = 0–0.99 and HLA-DR*13 (P=0.028, OR = 0.511, one-sided 95% CI = 0–0.91 were found to be associated with resistance to secondary dengue infection by DENV-3. These results suggest that HLA-B*44 supertype alleles and their respective T-cell responses might be involved in susceptibility to severe dengue infections, whereas the HLA-B*07 supertype alleles and DR*13 might be involved in cross-dengue serotype immunity.

  14. Cause-Specific Mortality after Stroke: Relation to Age, Sex, Stroke Severity, and Risk Factors in a 10-Year Follow-Up Study

    DEFF Research Database (Denmark)

    Mogensen, UB; Olsen, TS; Andersen, KK

    2013-01-01

    We investigated cause-specific mortality in relation to age, sex, stroke severity, and cardiovascular risk factor profile in the Copenhagen Stroke Study cohort with 10 years of follow-up. In a Copenhagen community, all patients admitted to the hospital with stroke during 1992-1993 (n = 988) were.......2% for nonvascular disease. Death after stroke was associated with older age, male sex, greater stroke severity, and diabetes regardless of the cause of death. Previous stroke and hemorrhagic stroke were associated with death by stroke, ischemic heart disease was associated with death by heart/arterial disease...... registered on admission. Evaluation included stroke severity, computed tomography scan, and a cardiovascular risk profile. Cause of death within 10 years according to death certificate information was classified as stroke, heart/arterial disease, or nonvascular disease. Competing-risks analyses were...

  15. 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

  16. Absence of Rapid Propagation through the Purkinje Network as a Potential Cause of Line Block in the Human Heart with Left Bundle Branch Block.

    Science.gov (United States)

    Okada, Jun-Ichi; Washio, Takumi; Nakagawa, Machiko; Watanabe, Masahiro; Kadooka, Yoshimasa; Kariya, Taro; Yamashita, Hiroshi; Yamada, Yoko; Momomura, Shin-Ichi; Nagai, Ryozo; Hisada, Toshiaki; Sugiura, Seiryo

    2018-01-01

    Background: Cardiac resynchronization therapy is an effective device therapy for heart failure patients with conduction block. However, a problem with this invasive technique is the nearly 30% of non-responders. A number of studies have reported a functional line of block of cardiac excitation propagation in responders. However, this can only be detected using non-contact endocardial mapping. Further, although the line of block is considered a sign of responders to therapy, the mechanism remains unclear. Methods: Herein, we created two patient-specific heart models with conduction block and simulated the propagation of excitation based on a cellmodel of electrophysiology. In one model with a relatively narrow QRS width (176 ms), we modeled the Purkinje network using a thin endocardial layer with rapid conduction. To reproduce a wider QRS complex (200 ms) in the second model, we eliminated the Purkinje network, and we simulated the endocardial mapping by solving the inverse problem according to the actual mapping system. Results: We successfully observed the line of block using non-contact mapping in the model without the rapid propagation of excitation through the Purkinje network, although the excitation in the wall propagated smoothly. This model of slow conduction also reproduced the characteristic properties of the line of block, including dense isochronal lines and fractionated local electrocardiograms. Further, simulation of ventricular pacing from the lateral wall shifted the location of the line of block. By contrast, in the model with the Purkinje network, propagation of excitation in the endocardial map faithfully followed the actual propagation in the wall, without showing the line of block. Finally, switching the mode of propagation between the two models completely reversed these findings. Conclusions: Our simulation data suggest that the absence of rapid propagation of excitation through the Purkinje network is the major cause of the functional line

  17. 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.

  18. Periarticular Morphine-Induced Sphincter of Oddi Spasm Causing Severe Pain and Bradycardia in an Awake Patient Under Spinal Anesthesia: An Important Diagnostic Consideration.

    Science.gov (United States)

    Koumpan, Yuri; Engen, Dale; Tanzola, Robert; Saha, Tarit

    2016-10-01

    Sphincter of Oddi spasm from opioids has been documented, presenting as severe epigastric pain and potentially overlooked in a differential diagnosis. We present a case of sphincter of Oddi spasm from periarticular morphine in a patient under spinal anesthesia, causing severe distress and treated effectively with glucagon. It is important for anesthesiologists using opioids to consider it as a cause of perioperative pain and be familiar with treatment as it may be refractory by conventional use of opioids for pain relief. It is also important to consider the systemic effects of periarticular absorption, as evident by our case.

  19. Left atrial appendage occlusion

    Directory of Open Access Journals (Sweden)

    Ahmad Mirdamadi

    2013-01-01

    Full Text Available Left atrial appendage (LAA occlusion is a treatment strategy to prevent blood clot formation in atrial appendage. Although, LAA occlusion usually was done by catheter-based techniques, especially percutaneous trans-luminal mitral commissurotomy (PTMC, it can be done during closed and open mitral valve commissurotomy (CMVC, OMVC and mitral valve replacement (MVR too. Nowadays, PTMC is performed as an optimal management of severe mitral stenosis (MS and many patients currently are treated by PTMC instead of previous surgical methods. One of the most important contraindications of PTMC is presence of clot in LAA. So, each patient who suffers of severe MS is evaluated by Trans-Esophageal Echocardiogram to rule out thrombus in LAA before PTMC. At open heart surgery, replacement of the mitral valve was performed for 49-year-old woman. Also, left atrial appendage occlusion was done during surgery. Immediately after surgery, echocardiography demonstrates an echo imitated the presence of a thrombus in left atrial appendage area, although there was not any evidence of thrombus in pre-pump TEE. We can conclude from this case report that when we suspect of thrombus of left atrial, we should obtain exact history of previous surgery of mitral valve to avoid misdiagnosis clotted LAA, instead of obliterated LAA. Consequently, it can prevent additional evaluations and treatments such as oral anticoagulation and exclusion or postponing surgeries including PTMC.

  20. Serum levels of interleukin-6 are linked to the severity of the disease caused by Andes Virus.

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    Jenniffer Angulo

    2017-07-01

    Full Text Available Andes virus (ANDV is the etiological agent of hantavirus cardiopulmonary syndrome in Chile. In this study, we evaluated the profile of the pro-inflammatory cytokines IL-1β, IL-12p70, IL-21, TNF-α, IFN-γ, IL-10 and IL-6 in serum samples of ANDV-infected patients at the time of hospitalization. The mean levels of circulating cytokines were determined by a Bead-Based Multiplex assay coupled with Luminex detection technology, in order to compare 43 serum samples of healthy controls and 43 samples of ANDV-infected patients that had been categorized according to the severity of disease. When compared to the controls, no significant differences in IL-1β concentration were observed in ANDV-infected patients (p = 0.9672, whereas levels of IL-12p70 and IL-21 were significantly lower in infected cases (p = <0.0001. Significantly elevated levels of TNF-α, IFN-γ, IL-10, and IL-6 were detected in ANDV-infected individuals (p = <0.0001, 0.0036, <0.0001, <0.0001, respectively. Notably, IL-6 levels were significantly higher (40-fold in the 22 patients with severe symptoms compared to the 21 individuals with mild symptoms (p = <0.0001. Using multivariate regression models, we show that IL-6 levels has a crude OR of 14.4 (CI: 3.3-63.1. In conclusion, the serum level of IL-6 is a significant predictor of the severity of the clinical outcome of ANDV-induced disease.

  1. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    OpenAIRE

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-01-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypoton...

  2. Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.

    Science.gov (United States)

    Hao, Xiuping; Cheng, XiaoLi; Ye, Jiajia; Wang, Yingyu; Yang, LiHong; Wang, Mingshan; Jin, Yanhui

    2016-06-01

    Congenital coagulation factor VII (FVII) deficiency is a rare disorder caused by mutation in F7 gene. Herein, we reported a patient who had unexplained hematuria and vertigo with consanguineous parents. He has been diagnosed as having FVII deficiency based on the results of reduced FVII activity (2.0%) and antigen (12.8%). The thrombin generation tests verified that the proband has obstacles in producing thrombin. Direct sequencing analysis revealed a novel homozygous missense mutation p.Trp284Gly. Also noteworthy is the fact that the mutational residue belongs to structurally conserved loop 140s, which majorly undergo rearrangement after FVII activation. Model analysis indicated that the substitution disrupts these native hydrophobic interactions, which are of great importance to the conformation in the activation domain of FVIIa.

  3. Implementing hospital-based surveillance for severe acute respiratory infections caused by influenza and other respiratory pathogens in New Zealand

    Directory of Open Access Journals (Sweden)

    Q Sue Huang

    2014-05-01

    Full Text Available Background: Recent experience with pandemic influenza A(H1N1pdm09 highlighted the importance of global surveillance for severe respiratory disease to support pandemic preparedness and seasonal influenza control. Improved surveillance in the southern hemisphere is needed to provide critical data on influenza epidemiology, disease burden, circulating strains and effectiveness of influenza prevention and control measures. Hospital-based surveillance for severe acute respiratory infection (SARI cases was established in New Zealand on 30 April 2012. The aims were to measure incidence, prevalence, risk factors, clinical spectrum and outcomes for SARI and associated influenza and other respiratory pathogen cases as well as to understand influenza contribution to patients not meeting SARI case definition. Methods/Design: All inpatients with suspected respiratory infections who were admitted overnight to the study hospitals were screened daily. If a patient met the World Health Organization’s SARI case definition, a respiratory specimen was tested for influenza and other respiratory pathogens. A case report form captured demographics, history of presenting illness, co-morbidities, disease course and outcome and risk factors. These data were supplemented from electronic clinical records and other linked data sources. Discussion: Hospital-based SARI surveillance has been implemented and is fully functioning in New Zealand. Active, prospective, continuous, hospital-based SARI surveillance is useful in supporting pandemic preparedness for emerging influenza A(H7N9 virus infections and seasonal influenza prevention and control.

  4. Thyroid Hormone Receptor α Mutation Causes a Severe and Thyroxine-Resistant Skeletal Dysplasia in Female Mice

    Science.gov (United States)

    Bassett, J. H. Duncan; Boyde, Alan; Zikmund, Tomas; Evans, Holly; Croucher, Peter I.; Zhu, Xuguang; Park, Jeong Won

    2014-01-01

    A new genetic disorder has been identified that results from mutation of THRA, encoding thyroid hormone receptor α1 (TRα1). Affected children have a high serum T3:T4 ratio and variable degrees of intellectual deficit and constipation but exhibit a consistently severe skeletal dysplasia. In an attempt to improve developmental delay and alleviate symptoms of hypothyroidism, patients are receiving varying doses and durations of T4 treatment, but responses have been inconsistent so far. Thra1PV/+ mice express a similar potent dominant-negative mutant TRα1 to affected individuals, and thus represent an excellent disease model. We hypothesized that Thra1PV/+ mice could be used to predict the skeletal outcome of human THRA mutations and determine whether prolonged treatment with a supraphysiological dose of T4 ameliorates the skeletal abnormalities. Adult female Thra1PV/+ mice had short stature, grossly abnormal bone morphology but normal bone strength despite high bone mass. Although T4 treatment suppressed TSH secretion, it had no effect on skeletal maturation, linear growth, or bone mineralization, thus demonstrating profound tissue resistance to thyroid hormone. Despite this, prolonged T4 treatment abnormally increased bone stiffness and strength, suggesting the potential for detrimental consequences in the long term. Our studies establish that TRα1 has an essential role in the developing and adult skeleton and predict that patients with different THRA mutations will display variable responses to T4 treatment, which depend on the severity of the causative mutation. PMID:24914936

  5. Did enhanced afforestation cause high severity peat burn in the Fort McMurray Horse River wildfire?

    Science.gov (United States)

    Wilkinson, S. L.; Moore, P. A.; Flannigan, M. D.; Wotton, B. M.; Waddington, J. M.

    2018-01-01

    Climate change mediated drying of boreal peatlands is expected to enhance peatland afforestation and wildfire vulnerability. The water table depth-afforestation feedback represents a positive feedback that can enhance peat drying and consolidation and thereby increase peat burn severity; exacerbating the challenges and costs of wildfire suppression efforts and potentially shifting the peatland to a persistent source of atmospheric carbon. To address this wildfire management challenge, we examined burn severity across a gradient of drying in a black spruce dominated peatland that was partially drained in 1975-1980 and burned in the 2016 Fort McMurray Horse River wildfire. We found that post-drainage black spruce annual ring width increased substantially with intense drainage. Average (±SD) basal diameter was 2.6 ± 1.2 cm, 3.2 ± 2.0 cm and 7.9 ± 4.7 cm in undrained (UD), moderately drained (MD) and heavily drained (HD) treatments, respectively. Depth of burn was significantly different between treatments (p threshold will aid in developing effective adaptive management techniques and protecting boreal peatland carbon stocks.

  6. Incidence and main causes of severe maternal morbidity in São Luís, Maranhão, Brazil: a longitudinal study

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    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.

  7. A single exposure to severe stressors causes long-term desensitisation of the physiological response to the homotypic stressor.

    Science.gov (United States)

    Armario, Antonio; Vallès, Astrid; Dal-Zotto, Silvina; Márquez, Cristina; Belda, Xavier

    2004-09-01

    Although some laboratories have reported that a single session of stress is able to induce a long-lasting sensitisation of the hypothalamic-pituitary-adrenal (HPA) response to further exposures to stress, we have found that a single exposure to severe emotional (immobilisation, restraint or shock) or systemic (endotoxin) stressors reduces the responsiveness of the HPA to the same, but not to a novel (heterotypic), stressor, in which case a slight sensitisation was observed. Long-term desensitisation has been found to reduce not only secretion of peripheral HPA hormones (ACTH and corticosterone), but also to reduce responses of central components of the HPA axis (c-fos and CRF gene expression at the level of the paraventricular nucleus of the hypothalamus, PVN). In addition, desensitisation also applies to the impact of the stressor on food intake and, probably, to stress-induced hyperglycaemia. The development of long-term desensitisation of the HPA axis does not appear to be a universal consequence of exposure to severe stressors as it was not observed in response to insulin-induced hypoglycaemia. Whether or not the development of long-term effects of stress depend on the specific pathways activated by particular stressors remains to be tested. The observed desensitisation of the HPA axis in response to the homotypic stressor shows two special features which makes it difficult to be interpreted in terms of an habituation-like process: (a) the effect increased with time (days to weeks) elapsed between the first and second exposure to the stressor, suggesting a progressive maturational process; and (b) the stronger the stressor the greater the long-term desensitisation. Therefore, it is possible that desensitisation of the HPA axis is the sum of two different phenomena: long-term effects and habituation-like processes. The contribution of the former may be more relevant with severe stressors and longer inter-stress intervals, and that of the latter with mild

  8. 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

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

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    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

  10. Severe hypokinesis caused by paraneoplastic anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasm of the testes.

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    Matsumoto, Lumine; Yamamoto, Tomotaka; Higashihara, Mana; Sugimoto, Izumi; Kowa, Hisatomo; Shibahara, Junji; Nakamura, Koichiro; Shimizu, Jun; Ugawa, Yoshikazu; Goto, Jun; Dalmau, Josep; Tsuji, Shoji

    2007-04-15

    We report a 40-year-old man with severe hypokinesis as paraneoplastic manifestation of a microscopic "carcinoma in situ" of the testis. The young age of the patient, along with progressive neurologic deterioration, detection of anti-Ma2 antibodies, and ultrasound findings of bilateral microcalcifications, led to bilateral orchiectomy, revealing the tumor in both testes. After orchiectomy, neurological symptoms stabilized, but the patient eventually died of systemic complications caused by his severe neurological deficits. Anti-Ma2 paraneoplastic encephalitis should be considered in patients with severe hypokinesis, and intensive investigation and aggressive approach to treatment is encouraged to prevent progression of the neurological deficits.

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

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    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.

  12. Reprodaetion of an animal model of multiple intestinal injuries mimicking "lethal triad" caused by severe penetrating abdominal trauma

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    Peng-fei WANG

    2011-03-01

    Full Text Available Objective To reproduce an animal model of multi-intestinal injuries with "lethal triad" characterized by low body temperature,acidosis and coagulopathy.Methods Six female domestic outbred pigs were anesthetized,and the carotid artery and jugular vein were cannulated for monitoring the blood pressure and heart rate and for infusion of fluid.The animals were shot with a gun to create a severe penetrating abdominal trauma.Immediately after the shooting,50% of total blood volume(35ml/kg hemorrhage was drawn from the carotid artery in 20min.After a 40min shock period,4h of pre-hospital phase was mimicked by normal saline(NS resuscitation to maintain systolic blood pressure(SBP > 80mmHg or mean arterial pressure(MAP > 60mmHg.When SBP > 80mmHg or MAP > 60mmHg,no fluid infusion or additional bleeding was given.Hemodynamic parameters were recorded,and pathology of myocardium,lung,small intestine and liver was observed.Results There were multiple intestinal perforations(8-10 site injuries/pig leading to intra-abdominal contamination,mesenteric injury(1-2 site injuries/pig resulted in partial intestinal ischemia and intra-abdominal hemorrhage,and no large colon and mesenteric vascular injury.One pig died before the completion of the model establishment(at the end of pre-hospital resuscitation.The typical symptoms of trauma-induced hemorrhagic shock were observed in survival animals.Low temperature(33.3±0.5℃,acidosis(pH=7.242±0.064,and coagulopathy(protrombin time and activated partial thromboplasting time prolonged were observed after pre-hospital resuscitation.Pathology showed that myocardium,lung,small intestine and liver were severely injured.Conclusions A new model,simulating three stages of "traumatic hemorrhagic shock,pre-hospital recovery and hospital treatment" and inducing the "lethal triad" accompanied with abdominal pollution,has been successfully established.This model has good stability and high reproducibility.The survival animals can be

  13. A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.

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    Yamaguchi, Shintaro; Maruyama, Tatsuya; Wakino, Shu; Tokuyama, Hirobumi; Hashiguchi, Akinori; Tada, Shinichiro; Homma, Koichiro; Monkawa, Toshiaki; Thomas, James; Miyashita, Kazutoshi; Kurihara, Isao; Yoshida, Tadashi; Konishi, Konosuke; Hayashi, Koichi; Hayashi, Matsuhiko; Itoh, Hiroshi

    2015-11-11

    Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC. We report the case of a 49-year-old Japanese woman who complained of multiple fractures. Hypophosphatemic osteomalacia was diagnosed from a low serum phosphorus level, 1,25-dihydroxyvitamin D3 level, high levels of bone specific alkaline phosphatase and the findings of bone scintigraphy, although a bone biopsy was not performed. Twenty four hour urine demonstrated a low renal fractional tubular reabsorption of phosphate, increased fractional excretion of uric acid and generalized aminoaciduria. An intravenous bicarbonate loading test suggested the presence of proximal renal tubular acidosis (RTA). These biochemical data indicated Fanconi syndrome with proximal RTA. A kidney biopsy demonstrated the features of tubulointerstitial nephritis (TIN). The patient was also suspected as having primary biliary cirrhosis (PBC) because of high levels of alkaline phosphatase, IgM and the presence of anti-mitochondrial M2 antibody, though biochemical liver function was normal. Sequential liver biopsy was compatible with PBC and the diagnosis of PBC was definite. After administration of 1,25 dihydroxyvitamin D3, neutral potassium phosphate, sodium bicarbonate for osteomalacia and subsequent predonizolone for TIN, symptoms of fractures were relieved and renal function including Fanconi syndrome was ameliorated. In this case, asymptomatic PBC was shown to induce TIN with Fanconi syndrome with dysregulation of electrolytes and vitamin D metabolism, which in turn led to osteomalacia with multiple fractures. Osteomalacia has not

  14. Lipoxin Inhibits Fungal Uptake by Macrophages and Reduces the Severity of Acute Pulmonary Infection Caused by Paracoccidioides brasiliensis

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    Laura R. R. Ribeiro

    2015-01-01

    Full Text Available Cysteinyl leukotrienes (CysLTs and lipoxins (LXs are lipid mediators that control inflammation, with the former inducing and the latter inhibiting this process. Because the role played by these mediators in paracoccidioidomycosis was not investigated, we aimed to characterize the role of CysLT in the pulmonary infection developed by resistant (A/J and susceptible (B10.A mice. 48 h after infection, elevated levels of pulmonary LTC4 and LXA4 were produced by both mouse strains, but higher levels were found in the lungs of susceptible mice. Blocking the CysLTs receptor by MTL reduced fungal loads in B10.A, but not in A/J mice. In susceptible mice, MLT treatment led to reduced influx of PMN leukocytes, increased recruitment of monocytes, predominant synthesis of anti-inflammatory cytokines, and augmented expression of 5- and 15-lipoxygenase mRNA, suggesting a prevalent LXA4 activity. In agreement, MTL-treated macrophages showed reduced fungal burdens associated with decreased ingestion of fungal cells. Furthermore, the addition of exogenous LX reduced, and the specific blockade of the LX receptor increased the fungal loads of B10.A macrophages. This study showed for the first time that inhibition of CysLTs signaling results in less severe pulmonary paracoccidioidomycosis that occurs in parallel with elevated LX activity and reduced infection of macrophages.

  15. Mycoplasma ovipneumoniae--a primary cause of severe pneumonia epizootics in the Norwegian Muskox (Ovibos moschatus population.

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    Kjell Handeland

    Full Text Available 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

  16. ENU mutagenesis identifies mice with morbid obesity and severe hyperinsulinemia caused by a novel mutation in leptin.

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    Chen-Jee Hong

    Full Text Available BACKGROUND: Obesity is a multifactorial disease that arises from complex interactions between genetic predisposition and environmental factors. Leptin is central to the regulation of energy metabolism and control of body weight in mammals. METHODOLOGY/PRINCIPAL FINDINGS: To better recapitulate the complexity of human obesity syndrome, we applied N-ethyl-N-nitrosourea (ENU mutagenesis in combination with a set of metabolic assays in screening mice for obesity. Mapping revealed linkage to the chromosome 6 within a region containing mouse Leptin gene. Sequencing on the candidate genes identified a novel T-to-A mutation in the third exon of Leptin gene, which translates to a V145E amino acid exchange in the leptin propeptide. Homozygous Leptin(145E/145E mutant mice exhibited morbid obesity, accompanied by adipose hypertrophy, energy imbalance, and liver steatosis. This was further associated with severe insulin resistance, hyperinsulinemia, dyslipidemia, and hyperleptinemia, characteristics of human obesity syndrome. Hypothalamic leptin actions in inhibition of orexigenic peptides NPY and AgRP and induction of SOCS1 and SOCS3 were attenuated in Leptin(145E/145E mice. Administration of exogenous wild-type leptin attenuated hyperphagia and body weight increase in Leptin(145E/145E mice. However, mutant V145E leptin coimmunoprecipitated with leptin receptor, suggesting that the V145E mutation does not affect the binding of leptin to its receptor. Molecular modeling predicted that the mutated residue would form hydrogen bond with the adjacent residues, potentially affecting the structure and formation of an active complex with leptin receptor within that region. CONCLUSIONS/SIGNIFICANCE: Thus, our evolutionary, structural, and in vivo metabolic information suggests the residue 145 as of special function significance. The mouse model harboring leptin V145E mutation will provide new information on the current understanding of leptin biology and novel mouse

  17. Phylogenetic evidence for intratypic recombinant events in a novel human adenovirus C that causes severe acute respiratory infection in children.

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    Wang, Yanqun; Li, Yamin; Lu, Roujian; Zhao, Yanjie; Xie, Zhengde; Shen, Jun; Tan, Wenjie

    2016-03-10

    Human adenoviruses (HAdVs) are prevalent in hospitalized children with severe acute respiratory infection (SARI). Here, we report a unique recombinant HAdV strain (CBJ113) isolated from a HAdV-positive child with SARI. The whole-genome sequence was determined using Sanger sequencing and high-throughput sequencing. A phylogenetic analysis of the complete genome indicated that the CBJ113 strain shares a common origin with HAdV-C2, HAdV-C6, HAdV-C1, HAdV-C5, and HAdV-C57 and formed a novel subclade on the same branch as other HAdV-C subtypes. BootScan and single nucleotide polymorphism analyses showed that the CBJ113 genome has an intra-subtype recombinant structure and comprises gene regions mainly originating from two circulating viral strains: HAdV-1 and HAdV-2. The parental penton base, pVI, and DBP genes of the recombinant strain clustered with the HAdV-1 prototype strain, and the E1B, hexon, fiber, and 100 K genes of the recombinant clustered within the HAdV-2 subtype, meanwhile the E4orf1 and DNA polymerase genes of the recombinant shared the greatest similarity with those of HAdV-5 and HAdV-6, respectively. All of these findings provide insight into our understanding of the dynamics of the complexity of the HAdV-C epidemic. More extensive studies should address the pathogenicity and clinical characteristics of the novel recombinant.

  18. Hypoplastic left heart syndrome

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    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  19. Pulmonary hypertension due to left heart disease.

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    Berthelot, Emmanuelle; Bailly, Minh Tam; Hatimi, Safwane El; Robard, Ingrid; Rezgui, Hatem; Bouchachi, Amir; Montani, David; Sitbon, Olivier; Chemla, Denis; Assayag, Patrick

    Pulmonary hypertension due to left heart disease, also known as group 2 pulmonary hypertension according to the European Society of Cardiology/European Respiratory Society classification, is the most common cause of pulmonary hypertension. In patients with left heart disease, the development of pulmonary hypertension favours right heart dysfunction, which has a major impact on disease severity and outcome. Over the past few years, this condition has been considered more frequently. However, epidemiological studies of group 2 pulmonary hypertension are less exhaustive than studies of other causes of pulmonary hypertension. In group 2 patients, pulmonary hypertension may be caused by an isolated increase in left-sided filling pressures or by a combination of this condition with increased pulmonary vascular resistance, with an abnormally high pressure gradient between arteries and pulmonary veins. A better understanding of the conditions underlying pulmonary hypertension is of key importance to establish a comprehensive diagnosis, leading to an adapted treatment to reduce heart failure morbidity and mortality. In this review, epidemiology, mechanisms and diagnostic approaches are reviewed; then, treatment options and future approaches are considered. Copyright © 2017. Published by Elsevier Masson SAS.

  20. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

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    Zeng, Ling-Hui; Rensing, Nicholas R; Zhang, Bo; Gutmann, David H; Gambello, Michael J; Wong, Michael

    2011-02-01

    Tuberous Sclerosis Complex (TSC) is an autosomal dominant, multi-system disorder, typically involving severe neurological symptoms, such as epilepsy, cognitive deficits and autism. Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC. Although there is a substantial overlap in the clinical phenotype produced by TSC1 and TSC2 mutations, accumulating evidence indicates that TSC2 mutations cause more severe neurological manifestations than TSC1 mutations. In this study, the neurological phenotype of a novel mouse model involving conditional inactivation of the Tsc2 gene in glial-fibrillary acidic protein (GFAP)-positive cells (Tsc2(GFAP1)CKO mice) was characterized and compared with previously generated Tsc1(GFAP1)CKO mice. Similar to Tsc1(GFAP1)CKO mice, Tsc2(GFAP1)CKO mice exhibited epilepsy, premature death, progressive megencephaly, diffuse glial proliferation, dispersion of hippocampal pyramidal cells and decreased astrocyte glutamate transporter expression. However, Tsc2(GFAP1)CKO mice had an earlier onset and higher frequency of seizures, as well as significantly more severe histological abnormalities, compared with Tsc1(GFAP1)CKO mice. The differences between Tsc1(GFAP1)CKO and Tsc2(GFAP1)CKO mice were correlated with higher levels of mammalian target of rapamycin (mTOR) activation in Tsc2(GFAP1)CKO mice and were reversed by the mTOR inhibitor, rapamycin. These findings provide novel evidence in mouse models that Tsc2 mutations intrinsically cause a more severe neurological phenotype than Tsc1 mutations and suggest that the difference in phenotype may be related to the degree to which Tsc1 and Tsc2 inactivation causes abnormal mTOR activation.

  1. Long-term follow-up of patients with paroxysmal atrial fibrillation and severe left atrial scarring: comparison between pulmonary vein antrum isolation only or pulmonary vein isolation combined with either scar homogenization or trigger ablation.

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    Mohanty, Sanghamitra; Mohanty, Prasant; Di Biase, Luigi; Trivedi, Chintan; Morris, Eli Hamilton; Gianni, Carola; Santangeli, Pasquale; Bai, Rong; Sanchez, Javier E; Hranitzky, Patrick; Gallinghouse, G Joseph; Al-Ahmad, Amin; Horton, Rodney P; Hongo, Richard; Beheiry, Salwa; Elayi, Claude S; Lakkireddy, Dhanunjaya; Madhu Reddy, Yaruva; Viles Gonzalez, Juan F; Burkhardt, J David; Natale, Andrea

    2017-11-01

    Left atrial (LA) scarring, a consequence of cardiac fibrosis is a powerful predictor of procedure-outcome in atrial fibrillation (AF) patients undergoing catheter ablation. We sought to compare the long-term outcome in patients with paroxysmal AF (PAF) and severe LA scarring identified by 3D mapping, undergoing pulmonary vein isolation (PVAI) only or PVAI and the entire scar areas (scar homogenization) or PVAI+ ablation of the non-PV triggers. Totally, 177 consecutive patients with PAF and severe LA scarring were included. Patients underwent PVAI only (n = 45, Group 1), PVAI+ scar homogenization (n = 66, Group 2) or PVAI+ ablation of non-PV triggers (n = 66, Group 3) based on operator's choice. Baseline characteristics were similar across the groups. After first procedure, all patients were followed-up for a minimum of 2 years. The success rate at the end of the follow-up was 18% (8 pts), 21% (14 pts), and 61% (40 pts) in Groups 1, 2, and 3, respectively. Cumulative probability of AF-free survival was significantly higher in Group 3 (overall log-rank P homogenization. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For Permissions, please email: journals.permissions@oup.com.

  2. High levels of virus replication and an intense inflammatory response contribute to the severe pathology in lymphoid tissues caused by Newcastle disease virus genotype VIId.

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    Hu, Zenglei; Hu, Jiao; Hu, Shunlin; Song, Qingqing; Ding, Pingyun; Zhu, Jie; Liu, Xiaowen; Wang, Xiaoquan; Liu, Xiufan

    2015-03-01

    Some strains of Newcastle disease virus (NDV) genotype VIId cause more-severe tissue damage in lymphoid organs compared to other virulent strains. In this study, we aim to define the mechanism of this distinct pathological manifestation of genotype VII viruses. Pathology, virus replication, and the innate immune response in lymphoid tissues of chickens infected with two genotype VIId NDV strains (JS5/05 and JS3/05), genotype IX NDV F48E8 and genotype IV NDV Herts/33, were compared. Histopathologic examination showed that JS5/05 and JS3/05 produced more-severe lesions in the spleen and thymus, but these four virulent strains caused comparable mild lesions in the bursa. In addition, JS3/05 and JS5/05 replicated at significantly higher levels in the lymphatic organs than F48E8 and Herts/33. A microarray assay performed on the spleens of chickens infected with JS5/05 or Herts/33 revealed that JS5/05 elicited a more potent inflammatory response by increasing the number and expression levels of activated genes. Moreover, cytokine gene expression profiling showed that JS5/05 and JS3/05 induced a stronger cytokine response in lymphoid tissues compared to F48E8 and Herts/33. Taken together, our results indicate that the severe pathology in immune organs caused by genotype VIId NDV strains is associated with high levels of virus replication and an intense inflammatory response.

  3. Correlation of left ventricular systolic dysfunction determined by low ejection fraction and 30-day mortality in patients with severe sepsis and septic shock: a systematic review and meta-analysis.

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    Sevilla Berrios, Ronaldo A; O'Horo, John C; Velagapudi, Venu; Pulido, Juan N

    2014-08-01

    The prognostic implications of myocardial dysfunction in patients with sepsis and its association with mortality are controversial. Several tools have been proposed to evaluate cardiac function in these patients, but their usefulness beyond guiding therapy is unclear. We review the value of echocardiographic estimate of left ventricular ejection fraction (LVEF) in the setting of severe sepsis and/or septic shock and its correlation with 30-day mortality. We conducted a systematic review and meta-analysis to evaluate the prognostic functionality of newly diagnosed LV systolic dysfunction by transthoracic echocardiography on critical ill patients admitted to the intensive care unit with severe sepsis or septic shock. A search of EMBASE and PubMed, Ovide MEDLINE, and Cochrane CENTRAL medical databases yielded 7 studies meeting inclusion criteria reporting on a total of 585 patients. The pooled sensitivity of depressed LVEF for mortality was 52% (95% confidence interval [CI], 29%-73%), and pooled specificity was 63% (95% CI, 53%-71%). Summary receiver operating characteristic curve showed an area under the curve of 0.62 (95% CI, 0.58-0.67). The overall mortality diagnostic odd ratio for septic patients with LV systolic dysfunction was 1.92 (95% CI, 1.27-2.899). Statistical heterogeneity of studies was moderate. The presence of new LV systolic dysfunction associated with sepsis and defined as low LVEF is neither a sensitive nor a specific predictor of mortality. These findings are limited because of the heterogeneity and underpower of the studies. Further research into this method is warranted. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Incidence of pancreatitis, secondary causes, and treatment of patients referred to a specialty lipid clinic with severe hypertriglyceridemia: a retrospective cohort study

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    Francis Gordon A

    2011-09-01

    Full Text Available Abstract Background Severe hypertriglyceridemia (HTG is one cause of acute pancreatitis, yet the level of plasma triglycerides likely to be responsible for inducing pancreatitis has not been clearly defined. Methods and Results A retrospective cohort study was conducted on patients presenting non-acutely to the Healthy Heart Program Lipid Clinic at St. Paul's Hospital with a TG level > 20 mM (1772 mg/dl between 1986 and 2007. Ninety-five patients with TG > 20 mM at the time of referral were identified, in who follow up data was available for 84. Fifteen patients (15.8%, with a mean outpatient TG level of 38.1 mM, had a history of acute pancreatitis. Among 91 additional patients with less severe HTG, none had a history of pancreatitis when TG were between 10 and 20 mM. Among patients with TG > 20 mM on presentation, 8 (8.5%, with a mean TG level of 67.8 mM, exhibited eruptive xanthomata. A diet high in carbohydrates and fats (79% and obesity (47.6% were the two most frequent secondary causes of HTG at initial visit. By 2009, among patients with follow up data 53% exhibited either pre-diabetes or overt Type 2 diabetes mellitus. Upon referral only 23 patients (24% were receiving a fibrate as either monotherapy or part of combination lipid-lowering therapy. Following initial assessment by a lipid specialist this rose to 84%, and remained at 67% at the last follow up visit. Conclusions These results suggest hypertriglyceridemia is unlikely to be the primary cause of acute pancreatitis unless TG levels are > 20 mM, that dysglycemia, a diet high in carbohydrates and fats, and obesity are the main secondary causes of HTG, and that fibrates are frequently overlooked as the drug of first choice for severe HTG.

  5. Clinical characterization of two severe cases of hemorrhagic fever with renal syndrome (HFRS caused by hantaviruses Puumala and Dobrava-Belgrade genotype Sochi

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    Ellen Krautkrämer

    2016-11-01

    Full Text Available Abstract Background Hantavirus disease belongs to the emerging infections. The clinical picture and severity of infections differ between hantavirus species and may even vary between hantavirus genotypes. The mechanisms that lead to the broad variance of severity in infected patients are not completely understood. Host- and virus-specific factors are considered. Case presentation We analyzed severe cases of hantavirus disease in two young women. The first case was caused by Puumala virus (PUUV infection in Germany; the second case describes the infection with Dobrava-Belgrade virus (DOBV in Russia. Symptoms, laboratory parameters and cytokine levels were analyzed and compared between the two patients. Serological and sequence analysis revealed that PUUV was the infecting agent for the German patient and the infection of the Russian patient was caused by Dobrava-Belgrade virus genotype Sochi (DOBV-Sochi. The symptoms in the initial phase of the diseases did not differ noticeably between both patients. However, deterioration of laboratory parameter values was prolonged and stronger in DOBV-Sochi than in PUUV infection. Circulating endothelial progenitor cells (cEPCs, known to be responsible for endothelial repair, were mobilized in both infections. Striking differences were observed in the temporal course and level of cytokine upregulation. Levels of angiopoietin-2 (Ang-2, vascular endothelial growth factor (VEGF, and stromal derived factor-1 (SDF-1α were increased in both infections; but, sustained and more pronounced elevation was observed in DOBV-Sochi infection. Conclusions Severe hantavirus disease caused by different hantavirus species did not differ in the general symptoms and clinical characteristics. However, we observed a prolonged clinical course and a late and enhanced mobilization of cytokines in DOBV-Sochi infection. The differences in cytokine deregulation may contribute to the observed variation in the clinical course.

  6. Inter-Ethnic Differences in Quantified Coronary Artery Disease Severity and All-Cause Mortality among Dutch and Singaporean Percutaneous Coronary Intervention Patients.

    Directory of Open Access Journals (Sweden)

    Crystel M Gijsberts

    Full Text Available Coronary artery disease (CAD is a global problem with increasing incidence in Asia. Prior studies reported inter-ethnic differences in the prevalence of CAD rather than the severity of CAD. The angiographic "synergy between percutaneous coronary intervention (PCI with taxus and cardiac surgery" (SYNTAX score quantifies CAD severity and predicts outcomes. We studied CAD severity and all-cause mortality in four globally populous ethnic groups: Caucasians, Chinese, Indians and Malays.We quantified SYNTAX scores of 1,000 multi-ethnic patients undergoing PCI in two tertiary hospitals in the Netherlands (Caucasians and Singapore (Chinese, Indians and Malays. Within each ethnicity we studied 150 patients with stable CAD and 100 with ST-elevated myocardial infarction (STEMI. We made inter-ethnic comparisons of SYNTAX scores and all-cause mortality.Despite having a younger age (mean age Indians: 56.8 and Malays: 57.7 vs. Caucasians: 63.7 years, multivariable adjusted SYNTAX scores were significantly higher in Indians and Malays than Caucasians with stable CAD: 13.4 [11.9-14.9] and 13.4 [12.0-14.8] vs. 9.4 [8.1-10.8], p<0.001. Among STEMI patients, SYNTAX scores were highest in Chinese and Malays: 17.7 [15.9-19.5] and 18.8 [17.1-20.6] vs. 15.5 [13.5-17.4] and 12.7 [10.9-14.6] in Indians and Caucasians, p<0.001. Over a median follow-up of 709 days, 67 deaths (stable CAD: 37, STEMI: 30 occurred. Among STEMI patients, the SYNTAX score independently predicted all-cause mortality: HR 2.5 [1.7-3.8], p<0.001 for every 10-point increase. All-cause mortality was higher in Indian and Malay STEMI patients than Caucasians, independent of SYNTAX score (adjusted HR 7.2 [1.5-34.7], p=0.01 and 5.8 [1.2-27.2], p=0.02.Among stable CAD and STEMI patients requiring PCI, CAD is more severe in Indians and Malays than in Caucasians, despite having a younger age. Moreover, Indian and Malay STEMI patients had a greater adjusted risk of all-cause mortality than Caucasians

  7. Left Ventricular Assist Devices

    Directory of Open Access Journals (Sweden)

    Khuansiri Narajeenron

    2017-04-01

    Full Text Available Audience: The audience for this classic team-based learning (cTBL session is emergency medicine residents, faculty, and students; although this topic is applicable to internal medicine and family medicine residents. Introduction: A left ventricular assist device (LVAD is a mechanical circulatory support device that can be placed in critically-ill patients who have poor left ventricular function. After LVAD implantation, patients have improved quality of life.1 The number of LVAD patients worldwide continues to rise. Left-ventricular assist device patients may present to the emergency department (ED with severe, life-threatening conditions. It is essential that emergency physicians have a good understanding of LVADs and their complications. Objectives: Upon completion of this cTBL module, the learner will be able to: 1 Properly assess LVAD patients’ circulatory status; 2 appropriately resuscitate LVAD patients; 3 identify common LVAD complications; 4 evaluate and appropriately manage patients with LVAD malfunctions. Method: The method for this didactic session is cTBL.

  8. Dual pathology causing severe pulmonary hypertension following surgical repair of total anomalous pulmonary venous connection: Successful outcome following serial transcatheter interventions.

    Science.gov (United States)

    Jain, Shreepal; Bachani, Neeta S; Pinto, Robin J; Dalvi, Bharat V

    2018-01-01

    Surgical repair of total anomalous pulmonary venous connection (TAPVC) can be complicated by the development of pulmonary venous stenosis later on. In addition, the vertical vein, if left unligated, can remain patent and lead to hemodynamically significant left to right shunting. We report an infant who required transcatheter correction of both these problems after surgical repair of TAPVC.

  9. Dual pathology causing severe pulmonary hypertension following surgical repair of total anomalous pulmonary venous connection: Successful outcome following serial transcatheter interventions

    Directory of Open Access Journals (Sweden)

    Shreepal Jain

    2018-01-01

    Full Text Available Surgical repair of total anomalous pulmonary venous connection (TAPVC can be complicated by the development of pulmonary venous stenosis later on. In addition, the vertical vein, if left unligated, can remain patent and lead to hemodynamically significant left to right shunting. We report an infant who required transcatheter correction of both these problems after surgical repair of TAPVC.

  10. CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

    Science.gov (United States)

    Jähn, Johanna; Caliebe, Almuth; von Spiczak, Sarah; Boor, Rainer; Stefanova, Irina; Stephani, Ulrich; Helbig, Ingo; Muhle, Hiltrud

    2013-07-01

    CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes.

  11. Treatment of severe mitral regurgitation caused by lesions in both leaflets using multiple mitral valve plasty techniques in a small dog

    Directory of Open Access Journals (Sweden)

    Satoko Yokoyama

    2017-11-01

    Full Text Available 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 in the posterior leaflet (PL in a mixed Chihuahua. Initially, we had planned MVR with an artificial valve. However, MVP combined with artificial chordal reconstruction of both leaflets, semicircular suture annuloplasty, and valvuloplasty using a newly devised direct scallop suture for the PL was attempted in this dog. The dog recovered well and showed no adverse cardiac signs, surviving two major operations. The dog died 4 years and 10 months after the MVP due to non-cardiovascular disease. Our additional technique of using a direct scallop suture seemed useful for PL repair involving multiple scallops in a small dog.

  12. 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.

  13. 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.

  14. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

    Science.gov (United States)

    Symonds, Joseph D; Joss, Shelagh; Metcalfe, Kay A; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J; Lampe, Anne K; Lees, Melissa M; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P; Zuberi, Sameer M

    2017-04-01

    The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations in SMC1A have been reported in five females, all of whom have been affected by a drug-resistant epilepsy, and severe developmental impairment. Our objective was to further delineate the phenotype of SMC1A truncation. Female cases with de novo truncation mutations in SMC1A were identified from the Deciphering Developmental Disorders (DDD) study (n = 8), from postmortem testing of an affected twin (n = 1), and from clinical testing with an epilepsy gene panel (n = 1). Detailed information on the phenotype in each case was obtained. Ten cases with heterozygous de novo mutations in the SMC1A gene are presented. All 10 mutations identified are predicted to result in premature truncation of the SMC1A protein. All cases are female, and none had a clinical diagnosis of CdLS. They presented with onset of epileptic seizures between <4 weeks and 28 months of age. In the majority of cases, a marked preponderance for seizures to occur in clusters was noted. Seizure clusters were associated with developmental regression. Moderate or severe developmental impairment was apparent in all cases. Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. These mutations are likely to be nonviable in males. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  15. The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

    Science.gov (United States)

    Baumann, G; Maheshwari, H

    1997-11-01

    We report the discovery of a cluster of severe familial dwarfism in two villages in the Province of Sindh in Pakistan. Dwarfism is proportionate and occurs in members of a kindred with a high degree of consanguinity. Only the last generation is affected, with the oldest dwarf being 28 years old. The mode of inheritance is autosomal recessive. Phenotype analysis and endocrine testing revealed isolated growth hormone deficiency (GHD) as the reason for growth failure. Linkage analysis for the loci of several candidate genes yielded a high lod score for the growth hormone-releasing hormone receptor (GHRH-R) locus on chromosome 7. Amplification and sequencing of the GHRH-R gene in affected subjects demonstrated an amber nonsense mutation (GAG-->TAG; Glu50-->Stop) in exon 3. The mutation, in its homozygous form, segregated 100% with the dwarf phenotype. It predicts a truncation of the GHRH-R in its extracellular domain, which is likely to result in a severely disabled or non-existent receptor protein. Subjects who are heterozygous for the mutation show mild biochemical abnormalities in the growth hormone-releasing hormone (GHRH)--growth hormone--insulin-like growth factor axis, but have only minimal or no growth retardation. The occurrence of an offspring of two dwarfed parents indicates that the GHRH-R is not necessary for fertility in either sex. We conclude that Sindh dwarfism is caused by an inactivating mutation in the GHRH-R gene, resulting in the inability to transmit a GHRH signal and consequent severe isolated GHD.

  16. Left Atrial Decompression by Percutaneous Left Atrial Venting Cannula Insertion during Venoarterial Extracorporeal Membrane Oxygenation Support

    Directory of Open Access Journals (Sweden)

    Ha Eun Kim

    2016-06-01

    Full Text Available Patients with venoarterial extracorporeal membrane oxygenation (ECMO frequently suffer from pulmonary edema due to left ventricular dysfunction that accompanies left heart dilatation, which is caused by left atrial hypertension. The problem can be resolved by left atrium (LA decompression. We performed a successful percutaneous LA decompression with an atrial septostomy and placement of an LA venting cannula in a 38-month-old child treated with venoarterial ECMO for acute myocarditis.

  17. First two cases of severe multifocal infections caused by Klebsiella pneumoniae in Switzerland: characterization of an atypical non-K1/K2-serotype strain causing liver abscess and endocarditis.

    Science.gov (United States)

    Babouee Flury, Baharak; Donà, Valentina; Buetti, Niccolò; Furrer, Hansjakob; Endimiani, Andrea

    2017-09-01

    We describe the first two multifocal invasive infections due to Klebsiella pneumoniae recently observed in Switzerland. Phenotypic (MIC assays and string test) and molecular analyses (PCR/Sequencing for bla, virulence factor genes and whole genome sequencing for one strain) were performed to characterize the causative K. pneumoniae isolates. Both K. pneumoniae isolates (Kp1 and Kp2) were pan-susceptible to antibiotics and produced narrow-spectrum SHV β-lactamases. However, only Kp1 was string test positive. Kp1 was of ST380 and caused liver abscess as well as pneumonia and orbital phlegmon in an Eritrean patient. It belonged to the hypervirulent capsular serotype K2 and harboured the classic virulence-associated rmpA and aerobactin genes, fulfilling both the clinical and microbiological definitions for an invasive K. pneumoniae syndrome. Kp2 was of ST1043 and caused both liver abscess and endocarditis in a Swiss patient. Moreover, it did not possess the classic virulence-associated genes. Whole genome sequencing identified less well-known virulence factors in Kp2 that might have contributed to its virulence. Among these there were genes important for intestinal colonization and/or invasion, such as genes involved in adhesion (e.g., fimABCD and mrkABCD), regulation of capsule polysaccharide biosynthesis (e.g., evgS-evgA), as well as iron uptake (iroN), energy conversion, and metabolism. This report confirms the continuous dissemination of hypervirulent K. pneumoniae strains among patients of non-Asian descent in Europe. Moreover, it highlights the genetic background of an atypical hypervirulent K. pneumoniae causing a severe invasive infection despite not possessing the classical virulence characteristics of hypermucoviscous strains. Copyright © 2017 International Society for Chemotherapy of Infection and Cancer. Published by Elsevier Ltd. All rights reserved.

  18. Large armored bridging over fractured vertebra with intraspinal tumor mimicking bony mass caused by migrated fragments of burst cervical vertebra presenting with severe cervical myelopathy

    Directory of Open Access Journals (Sweden)

    Satyarthee Guru Dutta

    2017-06-01

    Full Text Available Vertebral body may get displaced anterior or posteror with elements of rotation. However, burst cervical spine vertebral fracture may migrate anteriorly and posteriorly simultaneously. However anterior displaced fragment forming armor like mass is very rare. Similarly, the posteriorly propelled fragments migrating caudally and posterolaterally producing a large osseous mass inside spinal canal mimicking bony tumour causing severe cervical canal stenosis and presenting with marked myelopathy is extremely rare. To the best knowledge of authors, association of such traumatic dual pathology represents first of its kind in western literature, who was neglected early medical advice and presenting with marked compressive cervical myelopathy. She underwent successful surgical decompression with gradual recovery of spastic limb weakness and recovery of sensation. Authors also highlights the importance of early resuscitation and adequate maintainace of mean arterial pressure following acute spinal cord injury. Pertinent literature is briefly reviewed.

  19. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

    Science.gov (United States)

    Lin, Phoebe; Shankar, Suma P; Duncan, Jacque; Slavotinek, Anne; Stone, Edwin M; Rutar, Tina

    2010-02-01

    Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother. Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  20. Olive anthracnose: a yield- and oil quality-degrading disease caused by several species of Colletotrichum that differ in virulence, host preference and geographical distribution.

    Science.gov (United States)

    Talhinhas, Pedro; Loureiro, Andreia; Oliveira, Helena

    2018-03-08

    Olive anthracnose causes fruit rot leading to its drop or mummification, resulting in yield losses and the degradation of oil quality. The disease is caused by diverse species of Colletotrichum, mostly clustering in the C. acutatum species complex. Colletotrichum nymphaeae and C. godetiae are the prevalent species in the Northern Hemisphere, whereas C. acutatum sensu stricto is the most frequent species in the Southern Hemisphere, although it is recently and quickly emerging in the Northern Hemisphere. The disease has been reported from all continents, but it attains higher incidence and severity in the west of the Mediterranean Basin, where it is endemic in traditional orchards of susceptible cultivars. The pathogens are able to survive on vegetative organs. On the fruit surface, infections remain quiescent until fruit maturity, when typical anthracnose symptoms develop. Under severe epidemics, defoliation and death of branches can also occur. Pathogen species differ in virulence, although this depends on the cultivar. The selection of resistant cultivars depends strongly on pathogen diversity and environmental conditions, posing added difficulties to breeding efforts. Chemical disease control is normally achieved with copper-based fungicides, although this may be insufficient under highly favourable disease conditions and causes concern because of the presence of fungicide residues in the oil. In areas in which the incidence is high, farmers tend to anticipate harvest, with consequences in yield and oil characteristics. Olive production systems, harvest and post-harvest processing have experienced profound changes in recent years, namely new training systems using specific cultivars, new harvest and processing techniques and new organoleptic market requests. Changes are also occurring in both the geographical distribution of pathogen populations and the taxonomic framework. In addition, stricter rules concerning pesticide use are likely to have a strong impact

  1. Aphasia following left thalamic hemorrhage

    International Nuclear Information System (INIS)

    Makishita, Hideo; Miyasaka, Motomaro; Tanizaki, Yoshio; Yanagisawa, Nobuo; Sugishita, Morihiro.

    1984-01-01

    We reported 7 patients with left thalamic hemorrhage in the chronic stage (from 1.5 months to 4.5 months), and described language disorders examined by Western Aphasia Battery (WAB) and measured cerebral blood flow by single photon emission CT. Examination of language by WAB revealed 4 aphasics out of 7 cases, and 3 patients had no language deficit. The patient with Wernicke's aphasia showed low density area only in the left posterior thalamus in X-ray CT, and revealed severe low blood flow area extending to left temporal lobe in emission CT. In the case with transcortical sensory aphasia, although X-ray CT showed no obvious low density area, emission CT revealed moderate low flow area in watershed area that involved the territory between posterior cerebral and middle cerebral arteries in the left temporooccipital region in addition to low blood flow at the left thalamus. In one of the two patients classified as anomic aphasia, whose score of repetition (8.4) was higher than that of comprehension (7.4), emission CT showed slight low flow area at the temporo-occipital region similarly as the case with transcortical sensory aphasia. In another case with anomic aphasia, scored 9 on both fluensy and comprehension subtests and 10 on repetition, there was wide low density area all over the left thalamus and midline shift to the right in X-ray CT, and emission CT showed severe low blood flow in the same region spreading widely toward the cerebral surface. On the other hand, in all of the 3 patients without aphasia, emission CT showed low flow region restricted to the left thalamus. (J.P.N.)

  2. Viruses causing severe acute respiratory infections (SARI) in children ≤5 years of age at a tertiary care hospital in Rajasthan, India.

    Science.gov (United States)

    Malhotra, Bharti; Swamy, M Anjaneya; Janardhan Reddy, P V; Gupta, M L

    2016-12-01

    Severe acute respiratory infection (SARI) is one of the leading causes of death among children worldwide. As different respiratory viruses exhibit similar symptoms, simultaneous detection of these viruses in a single reaction mixture can save time and cost. The present study was done in a tertiary care children's hospital for rapid identification of viruses causing SARI among children less than or equal to five years of age using multiplex real-time reverse transcription polymerase chain reaction (RT-PCR) kit. A total of 155 throat swabs were collected from equal number of children suspected to have SARI and processed for extraction of nucleic acids using automated extraction system. Multiplex real-time RT-PCR was done to identify the viruses in the samples. The overall positivity for viruses in the study was found to be 72.9 per cent with a co-infection rate of 19.5 per cent. Human metapneumovirus (HMPV) was the predominant virus detected in 25.7 per cent children followed by influenza A (H1N1)pdm09, human rhinovirus (HRV) and human adenovirus (HAdV) in 19.9, 11.0 and 8.8 per cent children, respectively. The HMPV was at its peak in February 2013, HAdV showed two peaks in March-April, 2012 and November 2012-March 2013 while HRV was detected throughout the year. Multiplex real-time PCR helped in rapid identification of viruses. Seventeen viruses were detected in SARI cases with overall positivity of 72.9 per cent. HMPV was the most predominant virus. However, for better clinico-virological correlation, studies are required with complete work up of all the aetiological agents, clinical profile of patients and treatment outcome.

  3. 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.

  4. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

    Directory of Open Access Journals (Sweden)

    Sofie Symoens

    Full Text Available BACKGROUND: The Ehlers-Danlos Syndrome (EDS is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2. Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein. Remarkably, only two mutations were reported to affect the extended, highly conserved N-propeptide domain, which plays an important role in the regulation of the heterotypic collagen fibril diameter. We identified a novel COL5A1 N-propeptide mutation, resulting in an unusual but severe classic EDS phenotype and a remarkable splicing outcome. METHODOLOGY/PRINCIPAL FINDINGS: We identified a novel COL5A1 N-propeptide acceptor-splice site mutation (IVS6-2A>G, NM_000093.3_c.925-2A>G in a patient with cutaneous features of EDS, severe progressive scoliosis and eye involvement. Two mutant transcripts were identified, one with an exon 7 skip and one in which exon 7 and the upstream exon 6 are deleted. Both transcripts are expressed and secreted into the extracellular matrix, where they can participate in and perturb collagen fibrillogenesis, as illustrated by the presence of dermal collagen cauliflowers. Determination of the order of intron removal and computational analysis showed that simultaneous skipping of exons 6 and 7 is due to the combined effect of delayed splicing of intron 7, altered pre-mRNA secondary structure, low splice site strength and possibly disturbed binding of splicing factors. CONCLUSIONS/SIGNIFICANCE: We report a novel COL5A1 N-propeptide acceptor-splice site mutation in intron 6, which not only affects splicing of the adjacent exon 7, but also causes a splicing error of the upstream exon 6. Our findings add further insights into the COL5A1 splicing order and show for the first time that a single COL5A1 acceptor-splice site

  5. Left Paraduodenal Hernia: An Autopsy Case

    DEFF Research Database (Denmark)

    Omland, Silje Haukali; Hougen, Hans Petter

    2011-01-01

    We present a case of a left paraduodenal hernia diagnosed at autopsy. A left paraduodenal hernia is an internal hernia of congenital origin due to the abnormal rotation of the midgut during embryonic development. Internal hernias are a rare cause of intestinal obstruction, with the paraduodenal...

  6. Aerosol exposure to Rift Valley fever virus causes earlier and more severe neuropathology in the murine model, which has important implications for therapeutic development.

    Directory of Open Access Journals (Sweden)

    Christopher Reed

    Full Text Available Rift Valley fever virus (RVFV is an important mosquito-borne veterinary and human pathogen that can cause severe disease including acute-onset hepatitis, delayed-onset encephalitis, retinitis and blindness, or a hemorrhagic syndrome. Currently, no licensed vaccine or therapeutics exist to treat this potentially deadly disease. Detailed studies describing the pathogenesis of RVFV following aerosol exposure have not been completed and candidate therapeutics have not been evaluated following an aerosol exposure. These studies are important because while mosquito transmission is the primary means for human infection, it can also be transmitted by aerosol or through mucosal contact. Therefore, we directly compared the pathogenesis of RVFV following aerosol exposure to a subcutaneous (SC exposure in the murine model by analyzing survival, clinical observations, blood chemistry, hematology, immunohistochemistry, and virus titration of tissues. Additionally, we evaluated the effectiveness of the nucleoside analog ribavirin administered prophylactically to treat mice exposed by aerosol and SC. The route of exposure did not significantly affect the survival, chemistry or hematology results of the mice. Acute hepatitis occurred despite the route of exposure. However, the development of neuropathology occurred much earlier and was more severe in mice exposed by aerosol compared to SC exposed mice. Mice treated with ribavirin and exposed SC were partially protected, whereas treated mice exposed by aerosol were not protected. Early and aggressive viral invasion of brain tissues following aerosol exposure likely played an important role in ribavirin's failure to prevent mortality among these animals. Our results highlight the need for more candidate antivirals to treat RVFV infection, especially in the case of a potential aerosol exposure. Additionally, our study provides an account of the key pathogenetic differences in RVF disease following two potential

  7. A series of abnormal climatic conditions caused the most severe outbreak of first-generation adults of the meadow moth ( Loxostege sticticalis L.) in China

    Science.gov (United States)

    Chen, Xiao; Zeng, Juan; Zhai, Baoping

    2016-06-01

    The meadow moth, Loxostege sticticalis L., is a destructive migratory pest in the northern temperate zone. The outbreak mechanism of first-generation adults in China remains unclear. In 2008, the density of first-generation larvae was very low or even negligible in most sites in China. However, a great number of first-generation adults appeared unexpectedly in late July, and their offspring caused the most severe infestation on record. The present study aims to determine where the large influx of immigrant adults originated from and how this unprecedented population was established. Source areas were explored by trajectory analysis, and climatic patterns related to the population increase were investigated. Results showed that the outbreak population mainly immigrated from Northeast Mongolia and the Chita State of Russia, and the buildup of such a large population could be attributed to an exceptional northward migration of overwintered adults from North China to East Mongolia in the spring of 2007 and unusually favourable climatic conditions in the next two growth seasons. These results indicated that the population dynamics of meadow moth in Northeast Asia would be difficult to predict when only considering local climatic factors and population size within one country. International joint monitoring and information sharing related to this pest between China, Mongolia and Russia should be implemented.

  8. Severe Psychological Distress of Evacuees in Evacuation Zone Caused by the Fukushima Daiichi Nuclear Power Plant Accident: The Fukushima Health Management Survey.

    Science.gov (United States)

    Kunii, Yasuto; Suzuki, Yuriko; Shiga, Tetsuya; Yabe, Hirooki; Yasumura, Seiji; Maeda, Masaharu; Niwa, Shin-Ichi; Otsuru, Akira; Mashiko, Hirobumi; Abe, Masafumi

    2016-01-01

    Following the Great East Japan Earthquake on March 11, 2011, the nuclear disaster at the Fukushima Daiichi Nuclear Power Plant has continued to affect the mental health status of residents in the evacuation zone. To examine the mental health status of evacuee after the nuclear accident, we conducted the Mental Health and Lifestyle Survey as part of the ongoing Fukushima Health Management Survey. We measured mental health status using the Kessler 6-item psychological distress scale (K6) in a total of 73,569 (response rate: 40.7%) evacuees aged 15 and over who lived in the evacuation zone in Fukushima Prefecture. We then dichotomized responders using a 12/13 cutoff on the K6, and compared the proportion of K6 scores ≥13 and ≤12 in each risk factor including demographic information, socioeconomic variables, and disaster-related variables. We also performed bivariate analyses between mental health status and possible risk factors using the chi-square test. Furthermore, we performed multivariate regression analysis using modified Poisson regression models. The median K6 score was 5 (interquartile range: 1-10). The number of psychological distress was 8,717 (14.6%). We found that significant differences in the prevalence of psychological distress by almost all survey items, including disaster-related risk factors, most of which were also associated with increased Prevalence ratios (PRs). Additionally, we found that psychological distress in each evacuation zone was significantly positively associated with the radiation levels in their environment (r = 0.768, p = 0.002). The earthquake, tsunami and subsequent nuclear accident likely caused severe psychological distress among residents in the evacuation zone in Fukushima Prefecture. The close association between psychological distress and the radiation levels shows that the nuclear accident seriously influenced the mental health of the residents, which might be exacerbated by increased risk perception. To provide

  9. Overexpression of AtDREB1A causes a severe dwarf phenotype by decreasing endogenous gibberellin levels in soybean [Glycine max (L. Merr].

    Directory of Open Access Journals (Sweden)

    Haicui Suo

    Full Text Available Gibberellic acids (GAs are plant hormones that play fundamental roles in plant growth and developmental processes. Previous studies have demonstrated that three key enzymes of GA20ox, GA3ox, and GA2ox are involved in GA biosynthesis. In this study, the Arabidopsis DREB1A gene driven by the CaMV 35S promoter was introduced into soybean plants by Agrobacterium- mediated transformation. The results showed that the transgenic soybean plants exhibited a typical phenotype of GA-deficient mutants, such as severe dwarfism, small and dark-green leaves, and late flowering compared to those of the non-transgenic plants. The dwarfism phenotype was rescued by the application of exogenous GA(3 once a week for three weeks with the concentrations of 144 µM or three times in one week with the concentrations of 60 µM. Quantitative RT-PCR analysis revealed that the transcription levels of the GA synthase genes were higher in the transgenic soybean plants than those in controls, whereas GA-deactivated genes except GmGA2ox4 showed lower levels of expression. The transcript level of GmGA2ox4 encoding the only deactivation enzyme using C(20-GAs as the substrates in soybean was dramatically enhanced in transgenic plants compared to that of wide type. Furthermore, the contents of endogenous bioactive GAs were significantly decreased in transgenic plants than those of wide type. The results suggested that AtDREB1A could cause dwarfism mediated by GA biosynthesis pathway in soybean.

  10. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

    Science.gov (United States)

    Huizing, Marjan; Scher, Charles D; Strovel, Erin; Fitzpatrick, Diana L; Hartnell, Lisa M; Anikster, Yair; Gahl, William A

    2002-02-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease consisting of oculocutaneous albinism and a storage pool deficiency resulting from absent platelet dense bodies. The disorder is genetically heterogeneous. The majority of patients, including members of a large genetic isolate in northwest Puerto Rico, have mutations in HPS1. Another gene, ADTB3A, was shown to cause HPS-2 in two brothers having compound heterozygous mutations that allowed for residual production of the gene product, the beta3A subunit of adaptor complex-3 (AP-3). This heterotetrameric complex serves as a coat protein-mediating formation of intracellular vesicles, e.g. the melanosome and platelet dense body, from membranes of the trans-Golgi network. We determined the genomic organization of the human ADTB3A gene, with intron/exon boundaries, and describe a third patient with beta3A deficiency. This 5-y-old boy has two nonsense mutations, C1578T (R-->X) and G2028T (E-->X), which produce no ADTB3A mRNA and no beta3A protein. The associated mu3 subunit of AP-3 is also entirely absent. In fibroblasts, the cell biologic concomitant of this deficiency is robust and aberrant trafficking through the plasma membrane of LAMP-3, an integral lysosomal membrane protein normally carried directly to the lysosome. The clinical concomitant is a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency. Our findings expand the molecular, cellular, and clinical spectrum of HPS-2 and call for an increased index of suspicion for this diagnosis among patients with features of albinism, bleeding, and neutropenia.

  11. Overexpression of AtDREB1A causes a severe dwarf phenotype by decreasing endogenous gibberellin levels in soybean [Glycine max (L.) Merr].

    Science.gov (United States)

    Suo, Haicui; Ma, Qibin; Ye, Kaixin; Yang, Cunyi; Tang, Yujuan; Hao, Juan; Zhang, Zhanyuan J; Chen, Mingluan; Feng, Yuqi; Nian, Hai

    2012-01-01

    Gibberellic acids (GAs) are plant hormones that play fundamental roles in plant growth and developmental processes. Previous studies have demonstrated that three key enzymes of GA20ox, GA3ox, and GA2ox are involved in GA biosynthesis. In this study, the Arabidopsis DREB1A gene driven by the CaMV 35S promoter was introduced into soybean plants by Agrobacterium- mediated transformation. The results showed that the transgenic soybean plants exhibited a typical phenotype of GA-deficient mutants, such as severe dwarfism, small and dark-green leaves, and late flowering compared to those of the non-transgenic plants. The dwarfism phenotype was rescued by the application of exogenous GA(3) once a week for three weeks with the concentrations of 144 µM or three times in one week with the concentrations of 60 µM. Quantitative RT-PCR analysis revealed that the transcription levels of the GA synthase genes were higher in the transgenic soybean plants than those in controls, whereas GA-deactivated genes except GmGA2ox4 showed lower levels of expression. The transcript level of GmGA2ox4 encoding the only deactivation enzyme using C(20)-GAs as the substrates in soybean was dramatically enhanced in transgenic plants compared to that of wide type. Furthermore, the contents of endogenous bioactive GAs were significantly decreased in transgenic plants than those of wide type. The results suggested that AtDREB1A could cause dwarfism mediated by GA biosynthesis pathway in soybean.

  12. Exposure to severe stressors causes long-lasting dysregulation of resting and stress-induced activation of the hypothalamic-pituitary-adrenal axis.

    Science.gov (United States)

    Belda, Xavier; Rotllant, David; Fuentes, Silvia; Delgado, Raúl; Nadal, Roser; Armario, Antonio

    2008-12-01

    Exposure to some predominantly emotional (electric shock) and systemic (interleukin-1beta) stressors has been found to induce long-term sensitization of the hypothalamic-pituitary-adrenal (HPA) responsiveness to further superimposed stressors. Since exposure to immobilization on wooden boards (IMO) is a severe stressor and may have interest regarding putative animal models of post-traumatic stress disorders (PTSD), we have characterized long-lasting effects of a single exposure to IMO and other stressors on the HPA response to the same (homotypic) and to novel (heterotypic) stressors and the putative mechanisms involved. A single exposure to IMO caused a long-lasting reduction of peripheral and central responses of the HPA axis, likely to be mediated by some brain areas, such as the lateral septum and the medial amygdala. This desensitization is not explained by changes in negative glucocorticoid feedback, and, surprisingly, it is positively related to the intensity of the stressors. In contrast, the HPA response to heterotypic stressors (novel environments) was enhanced, with maximal sensitization on the day after IMO. Sensitization progressively vanished over the course of 1-2 weeks and was not modulated by IMO-induced corticosterone release. Moreover, it could not be explained by changes in the sensitivity of the HPA axis to fast or intermediate/delayed negative feedback, as evaluated 1 week after exposure to IMO, using shock as the heterotypic stressor. Long-lasting stress-induced behavioral changes reminiscent of enhanced anxiety and HPA sensitization are likely to be parallel but partially independent phenomena, the former being apparently not related to the intensity of stressors.

  13. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

    Science.gov (United States)

    Hartel, Bas P; Löfgren, Maria; Huygen, Patrick L M; Guchelaar, Iris; Lo-A-Njoe Kort, Nicole; Sadeghi, Andre M; van Wijk, Erwin; Tranebjærg, Lisbeth; Kremer, Hannie; Kimberling, William J; Cremers, Cor W R J; Möller, Claes; Pennings, Ronald J E

    2016-09-01

    Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations. A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups. Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations. The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Síndrome diencéfalico como causa de desnutrición severa Diencephalic syndrome as a cause of severe malnutrition

    Directory of Open Access Journals (Sweden)

    Leonor Báez Segurola

    2013-03-01

    Full Text Available El síndrome diencefálico es un complejo de síntomas y signos causados por disfunción de esta área del encéfalo caracterizado por una marcada desnutrición aun cuando la ingesta calórica es normal. Se presentan dos casos, el primero de ellos una niña de 13 meses de edad con antecedentes de un fallo de medro a partir del tercer mes de vida, que ingresó en este servicio para el estudio de una desnutrición proteico energética severa que presentó en el transcurso de su evolución un apetito inestable y al mes de ingresada un evento paroxístico. Se le realizó resonancia magnética nuclear y se comprobó imagen hipodensa, redondeada, que medía aproximadamente 3 x 3 cm en región supraselar; fue intervenida quirúrgicamente en 2 ocasiones, se realizó exéresis del tumor, y se confirmó anatomopatológicamente un astrocitoma pilocítico de bajo grado. El segundo paciente, un lactante que ingresó con el diagnóstico confirmado de tumor intracraneal para estudio, semejante al caso presentado anteriormente, mostraba una marcada desnutrición proteico energética, se le realizó tomografía axial computarizada en la que se pudo apreciar una extensa masa tumoral supraselar con dilatación del sistema ventricular. Durante su evolución presentó marcada anorexia con pérdida de peso progresiva, por lo que se realizó gastrostomía. A los 59 días falleció como consecuencia de una pancitopenia, y la necropsia concluyó: astrocitoma pilocítico de bajo grado.Diencephalic syndrome is a set of symptoms and signs caused by dysfunction in this area of the encephalon and characterized by marked malnutrition despite adequate intake of calories. Two cases were reported in this paper. The first one was a 13-years old girl with a history of medro failure since her 3rd month of life, who was admitted to this service for the study of her severe protein/energy malnutrition. In the course of her hospitalization, she presented with unstable appetite and

  15. Left heart ventricular angiography

    Science.gov (United States)

    ... blood vessels. These x-ray pictures create a "movie" of the left ventricle as it contracts rhythmically. ... 22578925 www.ncbi.nlm.nih.gov/pubmed/22578925 . Review Date 9/26/2016 Updated by: Michael A. ...

  16. Left heart catheterization

    Science.gov (United States)

    Catheterization - left heart ... to help guide the catheters up into your heart and arteries. Dye (sometimes called "contrast") will be ... in the blood vessels that lead to your heart. The catheter is then moved through the aortic ...

  17. Left Ventricular Geometry In Nigerians With Type II Diabetes Mellitus ...

    African Journals Online (AJOL)

    Background: Left ventricular hypertrophy is independently associated with increased incidence of cardiovascular disease, cardiovascular and all cause mortality. In a relatively healthy hypertensive adult population, type II diabetes is associated with higher left ventricular mass, concentric left ventricular geometry and lower ...

  18. 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.

  19. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

    NARCIS (Netherlands)

    Hartel, B.P.; Lofgren, M.; Huygen, P.L.; Guchelaar, I.; Lo, A.N.K.N.; Sadeghi, A.M.; van Wijk, E.; Tranebjaerg, L.; Kremer, H.; Kimberling, W.J.; Cremers, C.W.R.J.; Moller, C.; Pennings, R.J.

    2016-01-01

    OBJECTIVES: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates

  20. Congenital Absence of Left Circumflex Coronary Artery

    Directory of Open Access Journals (Sweden)

    Zahra Ansari

    2009-09-01

    Full Text Available Congenital absence of left circumflex artery is a rare congenitalanomaly of the coronary arteries. The prevalence of theanomaly in different studies ranges from 0.6% to 1.3%. Ofthese, 80% are benign and asymptomatic and 20% are clinicallyimportant. We report a 56-year-old man presented withacute resting chest pain who was diagnosed as having acuteanterolateral infarction accompanied by electrocardiographicchanges and elevated cardiac enzymes. Coronary angiographyin different views was conducted, however, no left circumflexartery was found. The territory supplied by the artery had beenperfused by the super dominant right coronary artery. Therewas no left circumflex coronary artery with anomalous origin.Sever stenosis of left anterior ascending artery superimposedto the absent left circumflex artery was presented as acute anterolateralinfarction. Although absence of the artery is mostlyconsidered as a benign condition, atherosclerotic lesions maybe more important in such cases because of diminished compensatingmechanisms.

  1. Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

    Science.gov (United States)

    Saito, Yoshiaki; Aoki, Yusuke; Takeshita, Eri; Saito, Takashi; Sugai, Kenji; Komaki, Hirofumi; Nakagawa, Eiji; Ishiyama, Akihiko; Takanoha, Satoko; Wada, Satoru; Sasaki, Masayuki

    2014-11-01

    To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with (n=19) and without (n=63) a history of hypophosphatemia (serum phosphate levels refeeding syndrome (n=4) and Fanconi syndrome (n=3), but was unidentifiable in one episode. Significant elevations in C-reactive protein levels and reductions in sodium levels were observed during hypophosphatemia episodes. Hypophosphatemia is a common complication in severely disabled individuals with frequent bacterial infections, refeeding following malnutrition and valproate administration for epilepsy treatment. Because severe hypophosphatemia is life threatening, serum phosphate levels should be closely monitored in this population. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Left coronary aneurysmal dilation and subaortic stenosis in a dog.

    Science.gov (United States)

    Hernandez, Juan L; Bélanger, Marie-Claude; Benoit-Biancamano, Marie-Odile; Girard, Christiane; Pibarot, Philippe

    2008-06-01

    A 6-month-old German shepherd dog was referred for evaluation of a cardiac murmur. Upon physical examination, the auscultated heart rate was 120 beats/min, and a grade IV/VI systolic heart murmur with a point of maximal intensity over the left heart base radiating up the neck was heard. The standard echocardiographic examination showed subaortic stenosis and an anechoic tubular structure extending from the sinus of Valsalva to the left ventricular posterior wall. Aneurysmal left coronary artery (CA) was confirmed by angiography. The dog was euthanized and post-mortem examination showed severe dilatation of the proximal left CA and confirmed the subaortic stenosis. Histopathology did not demonstrate abnormalities in the walls of the CA, aorta or pulmonary artery. The exact cause of the CA aneurysmal dilation remains unknown. Subaortic stenosis, elevated coronary vascular resistance or a congenital anomaly may have contributed to the dilation. To our knowledge, coronary aneurysmal dilation has never been described in dogs. Standard echocardiography provides reliable information on coronary anatomy.

  3. Inter-Ethnic Differences in Quantified Coronary Artery Disease Severity and All-Cause Mortality among Dutch and Singaporean Percutaneous Coronary Intervention Patients

    NARCIS (Netherlands)

    Gijsberts, Crystel M; Seneviratna, Aruni; Höfer, IE; Agostoni, Pierfrancesco; Rittersma, Saskia Z. H.; Pasterkamp, Gerard; Hartman, Mikael; Pinto de Carvalho, Leonardo; Richards, A Mark; Asselbergs, Folkert W; de Kleijn, Dominique P V; Chan, Mark Y

    2015-01-01

    BACKGROUND: Coronary artery disease (CAD) is a global problem with increasing incidence in Asia. Prior studies reported inter-ethnic differences in the prevalence of CAD rather than the severity of CAD. The angiographic "synergy between percutaneous coronary intervention (PCI) with taxus and cardiac

  4. Adult Intussusception Caused by Heterotopic Pancreas

    Directory of Open Access Journals (Sweden)

    Va-Kei Kok

    2007-05-01

    Full Text Available Heterotopic pancreas causing small bowel intussusception is rare. We report the case of a 24-year-old woman who presented with intermittent episodes of abdominal cramping and pain that had persisted for 10 days. A target-shaped lesion consisting of multiple concentric rings was found on the left side on contrast-enhanced computed tomography. Surgical intervention demonstrated jejunal intussusception caused by a jejunal heterotopic pancreas. Microscopically, several nesidioblastoses of pancreas were identified. Although very rare, small intestinal pancreatic rests may cause subacute bowel obstruction.

  5. An Asymptomatic Patient with Severe Mitral Regurgitation

    Directory of Open Access Journals (Sweden)

    Blase A. Carabello, MD

    2018-01-01

    Full Text Available In primary mitral regurgitation there are anatomic abnormalities of the mitral valve causing backward flow, placing a hemodynamic burden on the left ventricle. If this burden is severe and prolonged, it leads to left ventricular damage, heart failure, and death. The preferred therapy is restoration of mitral competence through mitral valve repair, which is safer than mitral valve replacement. When repair is performed in a timely fashion, lifespan can be returned to that of a normal individual. Triggers for timely repair include the onset of symptoms and evidence of left ventricular dysfunction as determined by ejection fraction falling toward 60% and/or end-systolic dimension increasing toward 40 mm.

  6. Sustained oxidative stress causes late acute renal failure via duplex regulation on p38 MAPK and Akt phosphorylation in severely burned rats.

    Directory of Open Access Journals (Sweden)

    Yafei Feng

    Full Text Available BACKGROUND: Clinical evidence indicates that late acute renal failure (ARF predicts high mortality in severely burned patients but the pathophysiology of late ARF remains undefined. This study was designed to test the hypothesis that sustained reactive oxygen species (ROS induced late ARF in a severely burned rat model and to investigate the signaling mechanisms involved. MATERIALS AND METHODS: Rats were exposed to 100°C bath for 15 s to induce severe burn injury (40% of total body surface area. Renal function, ROS generation, tubular necrosis and apoptosis, and phosphorylation of MAPK and Akt were measured during 72 hours after burn. RESULTS: Renal function as assessed by serum creatinine and blood urea nitrogen deteriorated significantly at 3 h after burn, alleviated at 6 h but worsened at 48 h and 72 h, indicating a late ARF was induced. Apoptotic cells and cleavage caspase-3 in the kidney went up slowly and turned into significant at 48 h and 72 h. Tubular cell ROS production shot up at 6 h and continuously rose during the 72-h experiment. Scavenging ROS with tempol markedly attenuated tubular apoptosis and renal dysfunction at 72 h after burn. Interestingly, renal p38 MAPK phosphorylation elevated in a time dependent manner whereas Akt phosphorylation increased during the first 24 h but decreased at 48 h after burn. The p38 MAPK specific inhibitor SB203580 alleviated whereas Akt inhibitor exacerbated burn-induced tubular apoptosis and renal dysfunction. Furthermore, tempol treatment exerted a duplex regulation through inhibiting p38 MAPK phosphorylation but further increasing Akt phosphorylation at 72 h postburn. CONCLUSIONS: These results demonstrate that sustained renal ROS overproduction induces continuous tubular cell apoptosis and thus a late ARF at 72 h after burn in severely burned rats, which may result from ROS-mediated activation of p38 MAPK but a late inhibition of Akt phosphorylation.

  7. Validation of the Infectious Diseases Society of America/American Thoracic Society criteria to predict severe community-acquired pneumonia caused by Streptococcus pneumoniae.

    Science.gov (United States)

    Kontou, Paschalina; Kuti, Joseph L; Nicolau, David P

    2009-10-01

    Severe community-acquired pneumonia (CAP) is usually defined as pneumonia that requires intensive care unit (ICU) admission; the primary pathogen responsible for ICU admission is Streptococcus pneumoniae. In this study, the 2007 Infectious Diseases Society of America/American Thoracic Society (IDSA/ATS) consensus criteria for ICU admission were compared with other severity scores in predicting ICU admission and mortality. We retrospectively studied 158 patients with pneumococcal CAP (1999-2003). Clinical and laboratory features at the emergency department were recorded and used to calculate the 2007 IDSA/ATS rule, the 2001 ATS rule, 2 modified 2007 IDSA/ATS rules, the Pneumonia Severity Index (PSI), and the CURB (confusion, urea, respiratory rate, blood pressure) score. The sensitivity, specificity, positive predictive value, and negative predictive value (NPV) were assessed for the various indices. We also determined the criteria that were independently predictive of ICU admission and of mortality in our population. The 2007 IDSA/ATS criteria performed as well as the 2001 ATS rule in predicting ICU admission both demonstrated high sensitivity (90%) and NPV (97%). For the prediction of mortality, the best tool proved to be the PSI score (sensitivity, 95%; NPV, 99%). The variables associated with ICU admission in this patient population included tachypnea, confusion, Pao(2)/Fio(2) ratio of 250 or lower, and hypotension requiring fluid resuscitation. Mechanical ventilation and PSI class V were independently associated with mortality. This study confirms the usefulness of the new criteria in predicting severe CAP. The 2001 ATS criteria seem an attractive alternative because they are simple and as effective as the 2007 IDSA/ATS criteria.

  8. LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus.

    Science.gov (United States)

    Nocoń-Bohusz, Julita; Wikiera, Beata; Basiak, Aleksander; Śmigiel, Robert; Noczyńska, Anna

    2016-02-18

    Severe hypertriglyceridemia is a condition associated with extremely high triglycerides (TG) plasma concentrations exceeding 1000mg/dl. This condition may result in mutations in genes encoding lipoprotein lipase (LPL), apolipoprotein C2 (APOC2) and apolipoprotein A5 (APOA5) characterized by an autosomal recessive inheritance pattern. A case report of a patient in which clinical picture of type 1 diabetes mellitus (T1DM) was accompanied by diabetic ketoacidosis (DKA) and severe hypertriglyceridemia. A 2.5-year-old boy was admitted to the hospital with ketoacidosis (pH - 7.0, BE - 20mmol/l, HCO3 10mmol/l), glucose level of 850mg%, hyponatremia (Na 100mmol/l) and hyperlipidemia (TG 13493 mg/dl, TC 734 mg/dl). The administered treatment resulted in nearly normal glycemic values and lipid disturbances normalization. This child was diagnosed with a heterozygous mutation of the LPL gene. Currently with an intensive insulin therapy and correct metabolic control of type 1 diabetes mellitus (T1DM), this patient maintains a normal lipid profile. In patient with T1DM the diagnosis of severe hypertriglyceridemia in the course of ketoacidosis should be based on careful interpretation of laboratory tests results. Moreover genetic tests of the patient and his/her immediate relatives blood samples should be performed. © Polish Society for Pediatric Endocrinology and Diabetology.

  9. CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.

    Science.gov (United States)

    Lilles, Stella; Talvik, Inga; Noormets, Klari; Vaher, Ulvi; Õunap, Katrin; Reimand, Tiia; Sander, Valentin; Ilves, Pilvi; Talvik, Tiina

    2016-12-01

    Cyclin-dependent kinase-like 5 ( CDKL5 ) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and describe the phenotype-genotype correlations in three male and one female patient. One of the mutations, identified in a male patient, was a novel de novo hemizygous frameshift mutation (NM_003159.2:c.2225_2228del (p.Glu742Afs*41)) in exon 15 of CDKL5. All boys have a more severe phenotype than the female patient. In boys with early onset of seizures and poor development with absent or poor eye contact, CDKL5 gene-related EIEE can be suspected and epilepsy-associated genes should be analyzed for early etiological diagnosis. Early genetic diagnosis would be the cornerstone in personalized treatment in the future. Georg Thieme Verlag KG Stuttgart · New York.

  10. JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family

    Science.gov (United States)

    Schneider, Susanne A.; Marshall, Kate E.; Xiao, Jianfeng; LeDoux, Mark S.

    2012-01-01

    We report the clinical, neuropsychological, genetic and radiological features of a large five-generation African-American kindred from the southern United States presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in JPH3. Overt disease onset was in the mid-twenties to late thirties with cognitive decline, REM sleep disturbance or psychiatric features, followed by development of a levodopa-unresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. Moreover, chorea may not be overtly manifest at presentation or during significant parts of the disease course. PMID:22447335

  11. Supplementation of antipsychotic treatment with sarcosine – GlyT1 inhibitor – causes changes of glutamatergic (1)NMR spectroscopy parameters in the left hippocampus in patients with stable schizophrenia.

    Science.gov (United States)

    Strzelecki, Dominik; Podgórski, Michał; Kałużyńska, Olga; Gawlik-Kotelnicka, Oliwia; Stefańczyk, Ludomir; Kotlicka-Antczak, Magdalena; Gmitrowicz, Agnieszka; Grzelak, Piotr

    2015-10-08

    Glutamatergic system, the main stimulating system of the brain, plays an important role in the pathogenesis of schizophrenia. Hippocampus, a structure crucial for memory and cognitive functions and rich in glutamatergic neurons, is a natural object of interest in studies on psychoses. Sarcosine, a glycine transporter (GlyT-1) inhibitor influences the function of NMDA receptor and glutamate-dependent transmission. The aim of the study was to assess the effects of sarcosine on metabolism parameters in the left hippocampus in patients with schizophrenia. Assessments were performed using proton nuclear magnetic resonance ((1)H NMR) spectroscopy (1.5T). Fifty patients diagnosed with schizophrenia (DSM-IV-TR), with dominant negative symptoms, in stable clinical condition and stable antipsychotics doses were treated either with sarcosine (n=25) or placebo (n=25). Spectroscopic parameters were evaluated within groups and between two groups before and after 6-month intervention. All patients were also assessed with the Positive and Negative Syndrome Scale (PANSS). In the sarcosine group, after 6-month treatment, we found significant decrease in hippocampal Glx/Cr (Glx-complex of glutamate, glutamine and GABA, Cr-creatine) and Glx/Cho (Cho-choline), while N-acetylaspartate (NAA), myo-inositol (mI), Cr and Cho parameters remained stable along the study and also did not differ significantly between both groups. This is the first study showing that a pharmacological intervention in schizophrenia, particularly augmentation of the antypsychotic treatment with sarcosine, may reverse the pathological increase in glutamatergic transmission in the hippocampus. The results confirm involvement of glutamatergic system in the pathogenesis of schizophrenia and demonstrate beneficial effects of GlyT-1 inhibitor on the metabolism in the hippocampus and symptoms of schizophrenia. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. The Effect of Sharrows, Painted Bicycle Lanes and Physically Protected Paths on the Severity of Bicycle Injuries Caused by Motor Vehicles.

    Science.gov (United States)

    Wall, Stephen P; Lee, David C; Frangos, Spiros G; Sethi, Monica; Heyer, Jessica H; Ayoung-Chee, Patricia; DiMaggio, Charles J

    2016-01-01

    We conducted individual and ecologic analyses of prospectively collected data from 839 injured bicyclists who collided with motorized vehicles and presented to Bellevue Hospital, an urban Level-1 trauma center in New York City, from December 2008 to August 2014. Variables included demographics, scene information, rider behaviors, bicycle route availability, and whether the collision occurred before the road segment was converted to a bicycle route. We used negative binomial modeling to assess the risk of injury occurrence following bicycle path or lane implementation. We dichotomized U.S. National Trauma Data Bank Injury Severity Scores (ISS) into none/mild (0-8) versus moderate, severe, or critical (>8) and used adjusted multivariable logistic regression to model the association of ISS with collision proximity to sharrows (i.e., bicycle lanes designated for sharing with cars), painted bicycle lanes, or physically protected paths. Negative binomial modeling of monthly counts, while adjusting for pedestrian activity, revealed that physically protected paths were associated with 23% fewer injuries. Painted bicycle lanes reduced injury risk by nearly 90% (IDR 0.09, 95% CI 0.02-0.33). Holding all else equal, compared to no bicycle route, a bicycle injury nearby sharrows was nearly twice as likely to be moderate, severe, or critical (adjusted odds ratio 1.94; 95% confidence interval (CI) 0.91-4.15). Painted bicycle lanes and physically protected paths were 1.52 (95% CI 0.85-2.71) and 1.66 (95% CI 0.85-3.22) times as likely to be associated with more than mild injury respectively.

  13. The Effect of Sharrows, Painted Bicycle Lanes and Physically Protected Paths on the Severity of Bicycle Injuries Caused by Motor Vehicles

    Directory of Open Access Journals (Sweden)

    Stephen P. Wall

    2016-12-01

    Full Text Available We conducted individual and ecologic analyses of prospectively collected data from 839 injured bicyclists who collided with motorized vehicles and presented to Bellevue Hospital, an urban Level-1 trauma center in New York City, from December 2008 to August 2014. Variables included demographics, scene information, rider behaviors, bicycle route availability, and whether the collision occurred before the road segment was converted to a bicycle route. We used negative binomial modeling to assess the risk of injury occurrence following bicycle path or lane implementation. We dichotomized U.S. National Trauma Data Bank Injury Severity Scores (ISS into none/mild (0–8 versus moderate, severe, or critical (>8 and used adjusted multivariable logistic regression to model the association of ISS with collision proximity to sharrows (i.e., bicycle lanes designated for sharing with cars, painted bicycle lanes, or physically protected paths. Negative binomial modeling of monthly counts, while adjusting for pedestrian activity, revealed that physically protected paths were associated with 23% fewer injuries. Painted bicycle lanes reduced injury risk by nearly 90% (IDR 0.09, 95% CI 0.02–0.33. Holding all else equal, compared to no bicycle route, a bicycle injury nearby sharrows was nearly twice as likely to be moderate, severe, or critical (adjusted odds ratio 1.94; 95% confidence interval (CI 0.91–4.15. Painted bicycle lanes and physically protected paths were 1.52 (95% CI 0.85–2.71 and 1.66 (95% CI 0.85–3.22 times as likely to be associated with more than mild injury respectively.

  14. Long-term efficacy and safety of α1 proteinase inhibitor treatment for emphysema caused by severe α1 antitrypsin deficiency

    DEFF Research Database (Denmark)

    McElvaney, Noel G; Burdon, Jonathan; Holmes, Mark

    2017-01-01

    BACKGROUND: Purified α1 proteinase inhibitor (A1PI) slowed emphysema progression in patients with severe α1 antitrypsin deficiency in a randomised controlled trial (RAPID-RCT), which was followed by an open-label extension trial (RAPID-OLE). The aim was to investigate the prolonged treatment effect...... of A1PI on the progression of emphysema as assessed by the loss of lung density in relation to RAPID-RCT. METHODS: Patients who had received either A1PI treatment (Zemaira or Respreeza; early-start group) or placebo (delayed-start group) in the RAPID-RCT trial were included in this 2-year open...

  15. T−B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex

    OpenAIRE

    Roberts, Joseph L.; Lauritsen, Jens Peter H.; Cooney, Myriah; Parrott, Roberta E.; Sajaroff, Elisa O.; Win, Chan M.; Keller, Michael D.; Carpenter, Jeffery H.; Carabana, Juan; Krangel, Michael S.; Sarzotti, Marcella; Zhong, Xiao-Ping; Wiest, David L.; Buckley, Rebecca H.

    2007-01-01

    CD3ζ is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCR-mediated signal transduction. We report here a patient with T−B+NK+ severe combined immunodeficiency (SCID) who was homozygous for a single C insertion following nucleotide 411 in exon 7 of the CD3ζ gene. The few T cells present contained no detectable CD3ζ protein, expressed low levels of cell surface CD3ε, and were nonfunctional. CD4+CD8−CD...

  16. Report of 15 injuries caused by lionfish (pterois volitans) in aquarists in Brazil: a critical assessment of the severity of envenomations.

    Science.gov (United States)

    Haddad, Vidal; Stolf, Hamilton Ometto; Risk, José Yamin; França, Francisco Os; Cardoso, João Luiz Costa

    2015-01-01

    Lionfish are venomous fish that belong to the Scorpaenidae family. Individuals of this family and those of the Synanceiidae family comprise most of the existing venomous fish in the world. Lionfish are originally found in the Indo-Pacific, but they have received special attention in the last years for their dissemination in the Atlantic Ocean, with the emergence of large populations in the USA, Caribbean and South America. Because of its beauty, this fish has always been present in private and commercial aquariums around the world. Herein, we describe 15 envenomations in aquarists registered in a period of eighteen years (1997-2014). The stings caused excruciating pain and marked inflammation, with local erythema, edema, heat, paleness and cyanosis. In one case, it was possible to observe vesicles and blisters. There were no skin necroses or marked systemic manifestations. We discuss the possible coming of the fish to South America and the circumstances and clinical impact of the envenomations.

  17. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

    DEFF Research Database (Denmark)

    Hartel, Bas P.; Lofgren, Maria; Huygen, Patrick L. M.

    2016-01-01

    Objectives Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates...... the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations. Design...... A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA...

  18. Near-infrared spectroscopy during stagnant ischemia estimates central venous oxygen saturation and mixed venous oxygen saturation discrepancy in patients with severe left heart failure and additional sepsis/septic shock

    OpenAIRE

    Mo?ina, Hugo; Podbregar, Matej

    2010-01-01

    Introduction Discrepancies of 5-24% between superior vena cava oxygen saturation (ScvO2) and mixed venous oxygen saturation (SvO2) have been reported in patients with severe heart failure. Thenar muscle tissue oxygenation (StO2) measured with near-infrared spectroscopy (NIRS) during arterial occlusion testing decreases slower in sepsis/septic shock patients (lower StO2 deoxygenation rate). The StO2 deoxygenation rate is influenced by dobutamine. The aim of this study was to determine the rela...

  19. A convenient model of severe, high incidence autoimmune gastritis caused by polyclonal effector T cells and without perturbation of regulatory T cells.

    Directory of Open Access Journals (Sweden)

    Eric Tu

    Full Text Available Autoimmune gastritis results from the breakdown of T cell tolerance to the gastric H(+/K(+ ATPase. The gastric H(+/K(+ ATPase is responsible for the acidification of gastric juice and consists of an α subunit (H/Kα and a β subunit (H/Kβ. Here we show that CD4(+ T cells from H/Kα-deficient mice (H/Kα(-/- are highly pathogenic and autoimmune gastritis can be induced in sublethally irradiated wildtype mice by adoptive transfer of unfractionated CD4(+ T cells from H/Kα(-/- mice. All recipient mice consistently developed the most severe form of autoimmune gastritis 8 weeks after the transfer, featuring hypertrophy of the gastric mucosa, complete depletion of the parietal and zymogenic cells, and presence of autoantibodies to H(+/K(+ ATPase in the serum. Furthermore, we demonstrated that the disease significantly affected stomach weight and stomach pH of recipient mice. Depletion of parietal cells in this disease model required the presence of both H/Kα and H/Kβ since transfer of H/Kα(-/- CD4(+ T cells did not result in depletion of parietal cells in H/Kα(-/- or H/Kβ(-/- recipient mice. The consistency of disease severity, the use of polyclonal T cells and a specific T cell response to the gastric autoantigen make this an ideal disease model for the study of many aspects of organ-specific autoimmunity including prevention and treatment of the disease.

  20. The use of stable xenon-enhanced computed tomographic studies of cerebral blood flow to define changes in cerebral carbon dioxide vasoresponsivity caused by a severe head injury.

    Science.gov (United States)

    Marion, D W; Bouma, G J

    1991-12-01

    Previous studies using the xenon-133 cerebral blood flow (CBF) method have documented the impairment of CO2 vasoresponsivity after a severe head injury, but only global values can be obtained reliably with this technique. We studied CO2 vasoresponsivity using the stable xenon-enhanced computed tomographic CBF method, which provided information about well-defined cortical regions and deep brain structures not available with the xenon-133 method. In 17 patients with admission Glasgow Coma Scale scores of 8 or less, hemispheric CO2 vasoresponsivity ranged from 1.3 to 8.5% per mm Hg change in partial CO2 pressure. Lobar, cerebellar, basal ganglia, and brain stem CO2 vasoresponsivity frequently varied from the mean global value by more than 25%. In all but one patient, local CO2 vasoresponsivity in one or more of these areas differed from the mean global value by more than 50%. The greatest variability occurred in patients with acute subdural hematomas and diffuse (bihemispheric) injuries. This variability in CO2 vasoresponsivity has important implications for the effective and safe management of intracranial hypertension that frequently accompanies severe head injury.

  1. Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

    Science.gov (United States)

    Haghighi, Amirreza; Haghighi, Alireza; Setoodeh, Aria; Saleh-Gohari, Nasrollah; Astuti, Dewi; Barrett, Timothy G

    2013-03-01

    Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the affected and healthy members of two families. The clinical diagnosis of WFS was confirmed by the existence of diabetes mellitus and optic atrophy in the affected patients, who in addition had severe neurodegenerative complications. Sequencing of WFS1 was undertaken in one affected member from each family. Targeted mutations were tested in all members of relevant families. Patients had most of the reported features of WFS. Two affected males in the first family had fathered unaffected children. We identified two homozygous mutations previously reported with apparently milder phenotypes: family 1: c.631G>A (p.Asp211Asn) in exon 5, and family 2: c.1456C>T (p.Gln486*) in exon 8. Heterozygous carriers were unaffected. This is the first report of male Wolfram patients who have successfully fathered children. Surprisingly, they also had almost all the complications associated with WFS. Our report has implications for genetic counseling and family planning advice for other affected families.

  2. No Community Left Behind

    Science.gov (United States)

    Schlechty, Phillip C.

    2008-01-01

    The debate over the reauthorization of No Child Left Behind (NCLB) generally overlooks--or looks past--what may be the most fundamental flaw in that legislation. As the law is now written, decisions regarding what the young should know and be able to do are removed from the hands of parents and local community leaders and turned over to officials…

  3. The Children Left Behind

    Science.gov (United States)

    Gillard, Sarah A.; Gillard, Sharlett

    2012-01-01

    This article explores some of the deficits in our educational system in regard to non-hearing students. It has become agonizingly clear that non-hearing students are being left out of the gallant sweep to enrich our children's educations. The big five areas of literacy, at best, present unique challenges for non-hearing students and, in some…

  4. 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

  5. Orthodontic Treatment of Maxillary Incisors with Severe Root Resorption Caused by Bilateral Canine Impaction in a Class II Division 1 Patient.

    Science.gov (United States)

    Chang, Na-Young; Park, Jae Hyun; Lee, Mi-Young; Cho, Jin-Woo; Cho, Jin-Hyoung; An, Ki-Yong; Chae, Jong-Moon

    2016-01-01

    This case report shows the successful alignment of bilateral impacted maxillary canines. A 12-year-old male with the chief complaint of the protrusion of his maxillary anterior teeth happened to have bilateral maxillary canine impaction on the labial side of his maxillary incisors. Four maxillary incisors showed severe root resorption because of the impacted canines. The patient was diagnosed as skeletal Class II malocclusion with proclined maxillary incisors. The impacted canine was carefully retracted using sectional buccal arch wires to avoid further root resorption of the maxillary incisors. To distalize the maxillary dentition, two palatal miniscrews were used. After 25 months of treatment, the maxillary canines were well aligned without any additional root resorption of the maxillary incisors.

  6. A Convenient Model of Severe, High Incidence Autoimmune Gastritis Caused by Polyclonal Effector T Cells and without Perturbation of Regulatory T Cells

    Science.gov (United States)

    Tu, Eric; Ang, Desmond K. Y.; Hogan, Thea V.; Read, Simon; Chia, Cheryl P. Z.; Gleeson, Paul A.; van Driel, Ian R.

    2011-01-01

    Autoimmune gastritis results from the breakdown of T cell tolerance to the gastric H+/K+ ATPase. The gastric H+/K+ ATPase is responsible for the acidification of gastric juice and consists of an α subunit (H/Kα) and a β subunit (H/Kβ). Here we show that CD4+ T cells from H/Kα-deficient mice (H/Kα−/−) are highly pathogenic and autoimmune gastritis can be induced in sublethally irradiated wildtype mice by adoptive transfer of unfractionated CD4+ T cells from H/Kα−/− mice. All recipient mice consistently developed the most severe form of autoimmune gastritis 8 weeks after the transfer, featuring hypertrophy of the gastric mucosa, complete depletion of the parietal and zymogenic cells, and presence of autoantibodies to H+/K+ ATPase in the serum. Furthermore, we demonstrated that the disease significantly affected stomach weight and stomach pH of recipient mice. Depletion of parietal cells in this disease model required the presence of both H/Kα and H/Kβ since transfer of H/Kα−/− CD4+ T cells did not result in depletion of parietal cells in H/Kα−/− or H/Kβ−/− recipient mice. The consistency of disease severity, the use of polyclonal T cells and a specific T cell response to the gastric autoantigen make this an ideal disease model for the study of many aspects of organ-specific autoimmunity including prevention and treatment of the disease. PMID:22096532

  7. A Severe Accident Caused by an Ocellate River Stingray (Potamotrygon motoro) in Central Brazil: How Well Do We Really Understand Stingray Venom Chemistry, Envenomation, and Therapeutics?

    Science.gov (United States)

    da Silva, Nelson Jorge; Ferreira, Kalley Ricardo Clementino; Pinto, Raimundo Nonato Leite; Aird, Steven Douglas

    2015-06-18

    Freshwater stingrays cause many serious human injuries, but identification of the offending species is uncommon. The present case involved a large freshwater stingray, Potamotrygon motoro (Chondrichthyes: Potamotrygonidae), in the Araguaia River in Tocantins, Brazil. Appropriate first aid was administered within ~15 min, except that an ice pack was applied. Analgesics provided no pain relief, although hot compresses did. Ciprofloxacin therapy commenced after ~18 h and continued seven days. Then antibiotic was suspended; however, after two more days and additional tests, cephalosporin therapy was initiated, and proved successful. Pain worsened despite increasingly powerful analgesics, until debridement of the wound was performed after one month. The wound finally closed ~70 days after the accident, but the patient continued to have problems wearing shoes even eight months later. Chemistry and pharmacology of Potamotrygon venom and mucus, and clinical management of freshwater stingray envenomations are reviewed in light of the present case. Bacterial infections of stingray puncture wounds may account for more long-term morbidity than stingray venom. Simultaneous prophylactic use of multiple antibiotics is recommended for all but the most superficial stingray wounds. Distinguishing relative contributions of venom, mucus, and bacteria will require careful genomic and transcriptomic investigations of stingray tissues and contaminating bacteria.

  8. Dwarfism in Mice Lacking Collagen-binding Integrins α2β1 and α11β1 Is Caused by Severely Diminished IGF-1 Levels*

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F.; Ehlen, Harald W. A.; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C.; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-01-01

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis. PMID:22210772

  9. Dwarfism in mice lacking collagen-binding integrins α2β1 and α11β1 is caused by severely diminished IGF-1 levels.

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F; Ehlen, Harald W A; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-02-24

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis.

  10. A Severe Accident Caused by an Ocellate River Stingray (Potamotrygon motoro in Central Brazil: How Well Do We Really Understand Stingray Venom Chemistry, Envenomation, and Therapeutics?

    Directory of Open Access Journals (Sweden)

    Nelson Jorge da Silva

    2015-06-01

    Full Text Available Freshwater stingrays cause many serious human injuries, but identification of the offending species is uncommon. The present case involved a large freshwater stingray, Potamotrygon motoro (Chondrichthyes: Potamotrygonidae, in the Araguaia River in Tocantins, Brazil. Appropriate first aid was administered within ~15 min, except that an ice pack was applied. Analgesics provided no pain relief, although hot compresses did. Ciprofloxacin therapy commenced after ~18 h and continued seven days. Then antibiotic was suspended; however, after two more days and additional tests, cephalosporin therapy was initiated, and proved successful. Pain worsened despite increasingly powerful analgesics, until debridement of the wound was performed after one month. The wound finally closed ~70 days after the accident, but the patient continued to have problems wearing shoes even eight months later. Chemistry and pharmacology of Potamotrygon venom and mucus, and clinical management of freshwater stingray envenomations are reviewed in light of the present case. Bacterial infections of stingray puncture wounds may account for more long-term morbidity than stingray venom. Simultaneous prophylactic use of multiple antibiotics is recommended for all but the most superficial stingray wounds. Distinguishing relative contributions of venom, mucus, and bacteria will require careful genomic and transcriptomic investigations of stingray tissues and contaminating bacteria.

  11. Severe Pneumonia Caused by Influenza A (H1N1 Virus Successfully Managed with Extracorporeal Life Support in a Comorbid Former Preterm Infant

    Directory of Open Access Journals (Sweden)

    Genny Raffaeli

    2017-03-01

    Full Text Available Influenza A (H1N1 virus infection is a global health burden, leading to significant pediatric morbidity and mortality. Prematurity, young age and comorbidities are important risk factors for unfavorable outcomes. Preventive strategies, such as healthcare workers and household contacts vaccination as well as the implementation of infection control practices during the epidemic season, are crucial to protect the most vulnerable populations. Early diagnosis, timely administration of antiviral drugs and supportive therapy are crucial to lead to a complete recovery. When conventional treatment fails, extracorporeal life support (ECLS may be employed. In neonates and young infants, this high-tech support is burdened by specific technical complexity. Despite the potential risks related to this aggressive approach, ECLS is a life-saving procedure in 65% of pediatric viral pneumonia and in 73% of sepsis cases. Here, we report the successful outcome of a 51-day formerly preterm infant, suffering from a surgical necrotizing enterocolitis (NEC, complicated with hospital-acquired pneumonia due to influenza A (H1N1 virus. She developed a severe respiratory failure, unresponsive to conventional therapy, and successfully treated with ECLS. To our knowledge, this is the first report on the use of ECLS in a formerly preterm infant, suffering from NEC complicated by influenza A (H1N1 virus infection.

  12. Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.

    Science.gov (United States)

    Cheng, Ruhong; Yan, Ming; Ni, Cheng; Zhang, Jia; Li, Ming; Yao, Zhirong

    2016-10-01

    Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no. 615508). We aim to identify the molecular basis for a Chinese pedigree of SAM syndrome. A Chinese pedigree of SAM syndrome was subjected to mutation detection in the DSG1 gene. Sequence analysis of the DSG1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG1 using cDNA derived from the epidermis of patients and controls were both performed. Skin biopsies were also taken from patients for pathological study and transmission electron microscopy observation. Novel homozygous splicing mutation c.1892-1delG in the exon-intron border of the DSG1 gene has been demonstrated to be associated with SAM syndrome. We report a new family of SAM syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene. © 2016 Japanese Dermatological Association.

  13. A dominant mutation of TWISTED DWARF 1 encoding an alpha-tubulin protein causes severe dwarfism and right helical growth in rice.

    Science.gov (United States)

    Sunohara, Hidehiko; Kawai, Takayuki; Shimizu-Sato, Sae; Sato, Yutaka; Sato, Kanna; Kitano, Hidemi

    2009-06-01

    Dwarfism is a common type of mutation in many plant species. The pathways and factors regulating biosynthesis and signaling of several plant growth regulators have been clarified through analyses of dwarf mutants in rice, Arabidopsis, pea, and maize. However, the genetic mechanisms controlling dwarfism are not well characterized, and the causal genes underlying most dwarf mutants are still uncovered. Here, we report a dominant mutant, Twisted dwarf 1-1 (Tid1-1), showing dwarfism and twisted growth in rice. Tid1-1 exhibit right helical growth of the leaves and stem and shortening of the roots. They also show an increased number of cells in the shoot apical meristem. Cells in the leaves of Tid1-1 are often ill-shapen, possibly owing to irregular cell division. Cell elongation in roots is suppressed in the elongation zone, and cells in the root apical meristem are enlarged. Map-based cloning of TID1 revealed that it encodes an alpha-tubulin protein comprising microtubules and is an ortholog of Arabidopsis LEFTY genes. Our analysis of the Tid1-1 mutant revealed that the dynamics of microtubules affects not only anisotropic growth in both dicots and monocots, but also meristematic activity and gross plant morphology.

  14. Severe IgE-mediated anaphylaxis following consumption of fried frog legs: definition of alpha-parvalbumin as the allergen in cause.

    Science.gov (United States)

    Hilger, C; Grigioni, F; Thill, L; Mertens, L; Hentges, F

    2002-11-01

    IgE-mediated allergic reactions to bullfrog and edible frog have been reported. The implicated allergens have not been defined so far. The frog material and the patient's serum from a case of severe food-induced anaphylaxis were used to define the implicated allergen at the protein and DNA level. Immunoblotting techniques and N-terminal protein microsequencing were used to define the allergen recognized by the patient's serum. Back translation from the identified protein sequence was used to design degenerated primers to amplify the allergen's cDNA by polymerase chain reaction (PCR). We defined the nucleotide sequence of the allergen from the frog of Indonesian origin that was consumed by the patient, and the homologous cDNA from Rana esculenta. Protein microsequencing revealed that the implicated frog allergen belonged to the parvalbumin family. cDNAs coding for alpha- and beta-parvalbumin of R. esculenta and Rana species were cloned. Recombinant proteins were expressed in Escherichia coli. The patient's serum IgE antibodies recognized parvalbumin prepared from frog muscle and recombinant alpha-parvalbumin from R. species but not from R. esculenta. Recombinant beta-parvalbumin was not recognized by the IgE antibodies. This work defines at the protein and DNA levels alpha-parvalbumin as the allergen implicated in a case of IgE-mediated anaphylaxis to frog muscle. It also shows that a protein belonging to the parvalbumin family is implicated in type I allergies outside the fish species.

  15. Effect of dofetilide in patients with recent myocardial infarction and left-ventricular dysfunction: a randomised trial

    DEFF Research Database (Denmark)

    Køber, L; Bloch Thomsen, P E; Møller, M

    2000-01-01

    vs seven of 56; p=0.002). There were seven cases of torsade de pointes ventricular tachycardia, all in the dofetilide group. INTERPRETATION: In patients with severe left-ventricular dysfunction and recent myocardial infarction, treatment with dofetilide did not affect all-cause mortality, cardiac...

  16. Left regular bands of groups of left quotients

    International Nuclear Information System (INIS)

    El-Qallali, A.

    1988-10-01

    A semigroup S which has a left regular band of groups as a semigroup of left quotients is shown to be the semigroup which is a left regular band of right reversible cancellative semigroups. An alternative characterization is provided by using spinned products. These results are applied to the case where S is a superabundant whose set of idempotents forms a left normal band. (author). 13 refs

  17. [Prevalence and causes of blindness and moderate and severe visual impairment among adults aged 50 years or above in Changji City of Xinjiang Uygur Autonomous Region: the China Nine-Province survey].

    Science.gov (United States)

    Ma, Xian-zhi; Zhao, Jia-liang; Ellwein, Leon B; Wei, Bin; Chen, Jing; Ye, Ying; Tang, Xiao-dong; Yang, Mei; Wang, Yu; Gao, Xue-cheng

    2013-09-01

    To investigate the prevalence and causes of blindness and moderate and severe visual impairment among adults aged ≥ 50 years in Changji City of Xinjiang Uygur Autonomous Region, China. It was a population-based cross-section study.Geographically defined cluster sampling was used in randomly selecting 5714 individuals aged ≥ 50 years in Changji City. The survey was preceded by a pilot study where operational methods were refined and quality assurance evaluation was carried out. All participants were enumerated through village registers followed door-to-door visits.Eligible individuals were invited to received visual acuity measurement and eye examination. Prevalence of blindness and moderate and severe visual impairment was calculated according to different age, gender or education. And the reasons of blindness were analyzed.Statistical analyses were performed using Stata/SE Statistical Software, release 9.0. Chi-square test was used to investigate the association of age, gender and education with presenting and best corrected visual acuity. Five thousands seven hundreds and fourteen individuals were enumerated and 5250 persons were examined, the response rate was 91.88%. Based on the criteria of World Health Organization visual impairment classification in 1973, the prevalence of blindness and moderate and severe visual impairment defined as best corrected visual acuity was 0.74% (39/5250) and 3.83% (201/5250) respectively. The prevalence of blindness and moderate and severe visual impairment defined as presenting visual acuity was 1.33% (70/5250) and 8.02% (421/5250) respectively. The prevalence of blindness and moderate and severe visual impairment was higher in aged (trend χ(2) = 617.06, P = 0.000) , illiterate (trend χ(2) = 222.35, P = 0.000) persons. Cataract and was the first leading cause of blindness and visual impairment, the retinal diseases, including age-related macular degeneration, high myopic retinopathy, and diabetic retinopathy, were the

  18. Why Dora Left

    DEFF Research Database (Denmark)

    Gammelgård, Judy

    2017-01-01

    The question of why Dora left her treatment before it was brought to a satisfactory end and the equally important question of why Freud chose to publish this problematic and fragmentary story have both been dealt with at great length by Freud’s successors. Dora has been read by analysts, literary...... problem toward femininity, both Dora’s and his own. In Dora, it is argued, Freud took a new stance toward the object of his investigation, speaking from the position of the master. Freud presents himself as the one who knows, in great contrast to the position he takes when unraveling the dream. Here he...

  19. Neutrosophic Left Almost Semigroup

    Directory of Open Access Journals (Sweden)

    Mumtaz Ali

    2014-06-01

    Full Text Available In this paper we extend the theory of neutrosophy to study left almost semigroup shortly LAsemigroup. We generalize the concepts of LA-semigroup to form that for neutrosophic LA-semigroup. We also extend the ideal theory of LA-semigroup to neutrosophy and discuss different kinds of neutrosophic ideals. We also find some new type of neutrosophic ideal which is related to the strong or pure part of neutrosophy. We have given many examples to illustrate the theory of neutrosophic LA-semigroup and display many properties of neutrosophic LA-semigroup in this paper.

  20. Aetiological factors in left-handedness

    Directory of Open Access Journals (Sweden)

    Milenković Sanja M.

    2005-01-01

    Full Text Available Lateralisation associates the extremities and senses of one side of the body, which are connected by afferent and efferent pathways, with the primary motor and sensory areas of the hemisphere on the opposite side. Dominant laterality denotes the appearance of a dominant extremity or sense in the performance of complex psychomotor activities. Laterality is manifested both as right-handedness or left-handedness, which are functionally equivalent and symmetrical in the performance of activities. Right-handedness is significantly more common than left-handedness. Genetic theory is most widely accepted in explaining the onset of lateralisation. According to this theory, the models of brain organisation asymmetry (anatomical, functional, and biochemical are strongly, genetically determined. However, the inability to clearly demonstrate the association between genetic factors and left-handedness has led researchers to investigate the effects of the environment on left-handedness. Of particular interest are the intrauterine environment and the factors influencing foetal development, of which hormones and ultrasound exposure are the most significant. It has been estimated that an extra five cases of nonright-handed lateralisation can be expected in every 100 males who were exposed to ultrasound in utero compared to those who were not. Socio-cultural pressure on left-handed individuals was much more severe in the past, which is confirmed by scientific findings that left-handedness is present in 13% of individuals in their twenties, while in less than 1% of individuals in their eighties.

  1. A Large Left Ventricle Myxoma: Presenting with Epigastric Pain and Weight Loss

    Directory of Open Access Journals (Sweden)

    Solmaz Fakhari

    2016-01-01

    Full Text Available Cardiac myxomas are the most common benign tumors found in the heart. They usually appear in the left atrium. Those originating from the left ventricle (LV are rare. Although clinical presentation may vary, dyspnea and embolism are the most commonly reported symptoms. In the present case study, a 27-year-old woman with a large myxoma originating from the left ventricular free wall is studied. She had atypical complaints, mainly epigastric discomfort, nausea, vomiting, and anorexia. She was hospitalized for acute abdomen, but subsequent investigations revealed a large myxoma that fully filled the LV and severely compromised the flow of the aortic and mitral valves. After successful emergency tumor resection, all symptoms disappeared. The uncommon presentation caused by these tumors is discussed in this study.

  2. [Prevalence and causes of blindness and moderate and severe visual impairment among adults aged 50 years or above in Longyao County of Hebei Province:the China Nine-Province survey].

    Science.gov (United States)

    Lü, Jian-hua; Zhao, Jia-liang; Ellwein, Leon B; Li, Shan-yu; Han, Dong; Yan, Zhong-yang; Zhang, Hong-bin; Yang, Mei; Wang, Yu; Gao, Xue-cheng

    2013-09-01

    To investigate the prevalence and causes of blindness and moderate and severe visual impairment among adults aged ≥ 50 years in Longyao County, Hebei Province, China. It was a population-based cross-section study.Geographically defined cluster sampling was used in randomly selecting 5527 individuals aged ≥ 50 years in Longyao County. The survey was preceded by a pilot study where operational methods were refined and quality assurance evaluation was carried out. All participants were enumerated through village registers followed door-to-door visits.Eligible individuals were invited to receive visual acuity measurement and eye examination. Prevalence of blindness and moderate and severe visual impairment was calculated according to different age, gender or education. And the reasons of blindness were analyzed.Statistical analyses were performed using Stata/SE Statistical Software, release 9.0. Chi-square test was used to investigate the association of age, gender and education with presenting and best corrected visual acuity. Five thousands five hundreds and twenty-seven individuals were enumerated and 5051 persons were examined, the response rate was 91.39%. Based on the criteria of World Health Organization visual impairment classification in 1973, the prevalence of blindness and moderate and severe visual impairment defined as best corrected visual acuity was 1.05% (53/5051) and 3.46% (175/5051) respectively. The prevalence of blindness and moderate and severe visual impairment defined as presenting visual acuity was 1.48% (75/5051) and 7.94% (401/5051) respectively. The prevalence of blindness and moderate and severe visual impairment was higher in aged (trend χ(2) = 897.27, P = 0.000) , female (χ(2) = 30.32, P = 0.000), illiterate (trend χ(2) = 83.20, P = 0.000) persons. Cataract was still the first leading cause of blindness. Un-corrected refractive error also was the main cause of visual impairment. The prevalence of blindness and moderate and severe

  3. [Prevalence and causes of blindness and moderate and severe visual impairment among adults aged 50 years or above in Yongchuan District of Chongqing City: the China Nine-Province survey].

    Science.gov (United States)

    Yin, Zheng-qin; Zhao, Jia-liang; Li, Ping-hua; Ellwein, Leon b; Song, Sheng-fang; Li, Fu-liang; Wang, Ting-gang; Ren, Yi-ming; Yang, Mei; Wang, Yu; Gao, Xue-cheng

    2013-09-01

    To investigate the prevalence and causes of blindness and moderate and severe visual impairment among adults aged 50 years or above in Yongchuan of Chongqing City, China. It was a population-based cross-section study.Geographically defined cluster sampling was used in randomly selecting 5663 individuals aged ≥ 50 years in Yongchuan District. The survey was preceded by a pilot study where operational methods were refined and quality assurance evaluation was carried out. All participants were enumerated through village registers followed door-to-door visits.Eligible individuals were invited to receive visual acuity measurement and eye examination. Prevalence of blindness and moderate and severe visual impairment was calculated according to different age, gender or education. And the reasons of blindness were analyzed.Statistical analyses were performed using Stata/SE Statistical Software, release 9.0. Chi-square test was used to investigate the association of age, gender and education with presenting and best corrected visual acuity. Five thousands six hundreds and sixty-three individuals were enumerated and 5390 persons were examined, the response rate was 95.18%. Based on the criteria of World Health Organization visual impairment classification in 1973, the prevalence of blindness and moderate and severe visual impairment defined as best corrected visual acuity was 2.12% (114/5390) and 5.40% (291/5390) respectively. The prevalence of blindness and moderate and severe visual impairment defined as presenting visual acuity was 2.49% (134/5390) and 10.71% (577/5390) respectively. The prevalence of blindness and moderate and severe visual impairment was higher in aged (trend χ(2) = 951.32, P = 0.000) , female (χ(2) = 33.35, P = 0.000) and illiterate (trend χ(2) equals; 141.32, P = 0.000) persons. Cataract was still the first leading cause of blindness and visual impairment.Un-corrected refractive error also was the main cause of visual impairment. The prevalence

  4. Pseudoaneurisma de ventrículo esquerdo associado a insuficiência mitral grave complicando infarto agudo do miocárdio ínfero-látero-dorsal Left ventricular pseudoaneurysm associated to severe mitral insufficiency, complicating inferolaterodorsal acute myocardial infarction

    Directory of Open Access Journals (Sweden)

    João Luiz de A. A. Falcão

    2005-06-01

    Full Text Available Descrevemos um caso de pseudoaneurisma de ventrículo esquerdo associado a grave regurgitação mitral, complicando um infarto ínfero-látero-dorsal. A lesão foi descoberta em ecocardiograma de rotina durante o seguimento ambulatorial. Destacam-se a estratégia cirúrgica bem sucedida, e a boa evolução clínica da paciente.We described a case of left ventricular pseudoaneurysm associated to a severe mitral regurgitation, complicating a inferolaterodorsal acute myocardial infarction. The lesion was found in a routine echocardiogram during the in-hospital follow-up. The well-succeeded surgical strategy and the good clinical evolution of the patient were distinguished.

  5. Pulmonary hypertension associated with left-sided heart disease.

    Science.gov (United States)

    Maeder, Micha Tobias; Schoch, Otto D; Kleiner, Rebekka; Joerg, Lucas; Weilenmann, Daniel; Swiss Society For Pulmonary Hypertension

    2017-01-19

    Pulmonary hypertension associated with left-sided heart disease (PH-LHD) is the most common type of pulmonary hypertension. In patients with left-sided heart disease, the presence of pulmonary hypertension is typically a marker of more advanced disease, more severe symptoms, and worse prognosis. In contrast to pulmonary arterial hypertension, PH-LHD is characterised by an elevated pulmonary artery wedge pressure (postcapillary pulmonary hypertension) without or with an additional precapillary component (isolated postcapillary versus combined postcapillary and precapillary pulmonary hypertension). Transthoracic echocardiography is the primary nonin-vasive imaging tool to estimate the probability of pulmonary hypertension and to establish a working diagnosis on the mechanism of pulmonary hyperten-sion. However, right heart catheterisation is always required if significant pulmonary hypertension is sus-pected and exact knowledge of the haemodynamic constellation is necessary. The haemodynamic con-stellation (mean pulmonary artery pressure, mean pulmonary artery wedge pressure, left ventricular end-diastolic pressure) in combination with clinical infor-mation and imaging findings (mainly echocardiog-raphy, coronary angiography and cardiac magnetic resonance imaging) will usually allow the exact mech-anism underlying PH-LHD to be defined, which is a prerequisite for appropriate treatment. The general principle for the management of PH-LHD is to treat the underlying left-sided heart disease in an optimal man-ner using drugs and/or interventional or surgical ther-apy. There is currently no established indication for pulmonary arterial hypertension-specific therapies in PH-LHD, and specific therapies may even cause harm in patients with PH-LHD.

  6. Left subclavian artery revascularization as part of thoracic stent grafting

    NARCIS (Netherlands)

    Saouti, N.; Hindori, V.; Morshuis, W.J.; Heijmen, R.H.

    2015-01-01

    OBJECTIVES: Intentional covering of the left subclavian artery (LSA) as part of thoracic endovascular aortic repair (TEVAR) can cause (posterior) strokes or left arm malperfusion. LSA revascularization can be done as prophylaxis against, or as treatment of, these complications. We report our

  7. Benign Multicystic Mesothelioma in the Left Round Ligament: Case Report

    International Nuclear Information System (INIS)

    Bae, So Young; Yi, Boem Ha; Lee, Hae Kyung; Park, Seong Jin; Cho, Gyu Seok; Kwak, Jeong Ja

    2010-01-01

    Benign multicystic mesothelioma is a rare mesothelial lesion that forms multicystic masses in the upper abdomen, pelvis, and retroperitoneum. Most cases have a benign course. We present the ultrasound and MR findings of benign multicystic mesothelioma in the left round ligament, which caused a left inguinal hernia in a 46-year-old woman

  8. Benign Multicystic Mesothelioma in the Left Round Ligament: Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Bae, So Young; Yi, Boem Ha; Lee, Hae Kyung; Park, Seong Jin; Cho, Gyu Seok; Kwak, Jeong Ja [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2010-02-15

    Benign multicystic mesothelioma is a rare mesothelial lesion that forms multicystic masses in the upper abdomen, pelvis, and retroperitoneum. Most cases have a benign course. We present the ultrasound and MR findings of benign multicystic mesothelioma in the left round ligament, which caused a left inguinal hernia in a 46-year-old woman.

  9. [Prevalence and causes of blindness and moderate and severe visual impairment among adults aged 50 years or above in Luxi County of Yunnan Province: the China Nine-Province survey].

    Science.gov (United States)

    Cai, Ning; Yuan, Yuan-sheng; Zhao, Jia-liang; Zhong, Hua; Ellwein, Leon B; Chen, Miao-miao; Dan, Ai-hua; Sun, Peng; Luo, Ting-hao; Wang, Yu; Gao, Xue-cheng

    2013-09-01

    To investigate the prevalence and causes of blindness and moderate and severe visual impairment among adults aged ≥ 50 years in Luxi County of Yunnan Province, China. It was a population-based cross-section study. Geographically defined cluster sampling was used in randomly selecting 5575 individuals aged ≥ 50 years in Luxi County. The survey was preceded by a pilot study where operational methods were refined and quality assurance evaluation was carried out. All participants were enumerated through village registers followed door-to-door visits.Eligible individuals were invited to receive visual acuity measurement and eye examination. Prevalence of blindness and moderate and severe visual impairment was calculated according to different age, gender or education. And the reasons of blindness were analyzed.Statistical analyses were performed using Stata/SE Statistical Software, release 9.0. Chi-square test was used to investigate the association of age, gender and education with presenting and best corrected visual acuity. Five thousands five hundreds and seventy-five individuals were enumerated and 5151 persons were examined, the response rate was 92.39%. Based on the criteria of World Health Organization visual impairment classification in 1973, the prevalence of blindness and moderate and severe visual impairment defined as best corrected visual acuity was 4.95% (255/5151) and 9.51% (490/5151) , respectively. The prevalence of blindness and moderate and severe visual impairment defined as presenting visual acuity was 5.40% (278/5151) and 15.84% (816/5151) , respectively. The prevalence of blindness and moderate and severe visual impairment was higher in aged (χ(2) = 1349.21, P = 0.000) , illiterate (χ(2) = 203.55, P = 0.000) persons. Cataract was still the first leading cause of blindness and visual impairment. The prevalence of blindness and moderate and severe visual impairment is highest in China Nine-Province Survey among older adults aged ≥ 50 years

  10. Fallopian Tube Herniation through Left Sided Abdominal Drain Site.

    Science.gov (United States)

    Hussain, Khalid; Masood, Jovaria

    2016-06-01

    Intra-abdominal drains have been used since long to prevent intra-abdominal collection, and detect any anastomotic leaks. We report a case of left sided fallopian tube herniation from a left lower abdominal drain site in a 27-year female who underwent caesarian section for breach presentation. Several complications related to drain usage has been described but left sided fallopian tube prolapse through drain site has not been reported in literature.

  11. Magnitude and Causes of Low Vision Disability (Moderate and Severe Visual Impairment) among Students of Al-Noor Institute for the Blind in Al-Hassa, Saudi Arabia: A case series.

    Science.gov (United States)

    Al-Wadani, Fahad; Khandekar, Rajiv; Al-Hussain, Muneera A; Alkhawaja, Ahmed A; Khan, Mohammed Sarfaraz; Alsulaiman, Ramzy A

    2012-02-01

    This study aimed to estimate the magnitude and causes of low vision disability (severe visual impairment [SVI] and moderate visual impairment [MVI]) among students at Al-Noor Institute for the Blind (NIB) in Al-Hassa, Saudi Arabia in 2006. An optometrist conducted refraction of 122 eyes of the 61 students (27 boys and 34 girls) with MVI (vision visual acuity was ≥6/18 and in 28 (23%) eyes, it was visual impairment in 16 (13.1%) and 9 (7.4%) eyes. These students were prescribed optical and non-optical low vision aids. Retinal disease was the main cause of SVI and MVI in our series. Some students at Al-Noor Institute for the Blind have curable low vision conditions. Rehabilitation of low vision disability should be different from that offered to the absolutely blind.

  12. Aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery arising from the right pulmonary artery: A case report

    International Nuclear Information System (INIS)

    Cho, Yong Seok; Kang, Mi Jin; Bae, Kyung Eun; Lee, Jin Hae; Lee, Han Bee; Kim, Jae Hyung; Jeong, Myeong Ja; Kang, Tae Kyung

    2013-01-01

    Aberrant origins of the pulmonary artery are rare anomalies, but are being reported several times in the world literature. Among them, pulmonary artery sling is the most well known anomaly, which is the left pulmonary artery arising from the right pulmonary artery. In case of pulmonary artery sling, the left pulmonary artery causes compression of the trachea and esophagus while it courses in between. In this case, we describe a case on incidentally found aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery without any compressions of the esophagus or trachea. In the world literature, aberrant origins of the left pulmonary artery without pulmonary artery sling was reported at one time, but currently, this is the first case of aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery arising from the right pulmonary artery.

  13. Aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery arising from the right pulmonary artery: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Yong Seok; Kang, Mi Jin; Bae, Kyung Eun; Lee, Jin Hae; Lee, Han Bee; Kim, Jae Hyung; Jeong, Myeong Ja; Kang, Tae Kyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul, (Korea, Republic of)

    2013-10-15

    Aberrant origins of the pulmonary artery are rare anomalies, but are being reported several times in the world literature. Among them, pulmonary artery sling is the most well known anomaly, which is the left pulmonary artery arising from the right pulmonary artery. In case of pulmonary artery sling, the left pulmonary artery causes compression of the trachea and esophagus while it courses in between. In this case, we describe a case on incidentally found aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery without any compressions of the esophagus or trachea. In the world literature, aberrant origins of the left pulmonary artery without pulmonary artery sling was reported at one time, but currently, this is the first case of aberrant origin of the upper left lobe anterior and superior lingular segmental pulmonary artery arising from the right pulmonary artery.

  14. Left-Wing Extremism: The Current Threat

    Energy Technology Data Exchange (ETDEWEB)

    Karl A. Seger

    2001-04-30

    Left-wing extremism is ''alive and well'' both in the US and internationally. Although the current domestic terrorist threat within the U. S. is focused on right-wing extremists, left-wing extremists are also active and have several objectives. Leftist extremists also pose an espionage threat to U.S. interests. While the threat to the U.S. government from leftist extremists has decreased in the past decade, it has not disappeared. There are individuals and organizations within the U.S. who maintain the same ideology that resulted in the growth of left-wing terrorism in this country in the 1970s and 1980s. Some of the leaders from that era are still communicating from Cuba with their followers in the U.S., and new leaders and groups are emerging.

  15. Non-compact left ventricle/hypertrabeculated left ventricle

    International Nuclear Information System (INIS)

    Restrepo, Gustavo; Castano, Rafael; Marmol, Alejandro

    2005-01-01

    Non-compact left ventricle/hypertrabeculated left ventricle is a myocardiopatie produced by an arrest of the normal left ventricular compaction process during the early embryogenesis. It is associated to cardiac anomalies (congenital cardiopaties) as well as to extracardial conditions (neurological, facial, hematologic, cutaneous, skeletal and endocrinological anomalies). This entity is frequently unnoticed, being diagnosed only in centers with great experience in the diagnosis and treatment of myocardiopathies. Many cases of non-compact left ventricle have been initially misdiagnosed as hypertrophic myocardiopatie, endocardial fibroelastosis, dilated cardiomyopatie, restrictive cardiomyopathy and endocardial fibrosis. It is reported the case of a 74 years old man with a history of chronic arterial hypertension and diabetes mellitus, prechordial chest pain and mild dyspnoea. An echocardiogram showed signs of non-compact left ventricle with prominent trabeculations and deep inter-trabecular recesses involving left ventricular apical segment and extending to the lateral and inferior walls. Literature on this topic is reviewed

  16. Extramedullary pulmonary hematopoiesis causing pulmonary hypertension and severe tricuspid regurgitation detected by {sup 99m} technetium sulfur colloid bone marrow scan and single-photon emission computed tomography/CT

    Energy Technology Data Exchange (ETDEWEB)

    Ali, Syed Zama; Clarke, Michael John; Kannivelu, Anbalagan; Chinchure, Dinesh; Srinivasan, Sivasubramanian [Dept. of Diagnostic Radiology, Khoo Teck Puat Hospital, Singapore (Singapore)

    2014-06-15

    Extramedullary pulmonary hematopoiesis is a rare entity with a limited number of case reports in the available literature only. We report the case of a 66-year-old man with known primary myelofibrosis, in whom a {sup 99m}technetium sulfur colloid bone marrow scan with single-photon emission computed tomography (SPECT)/CT revealed a pulmonary hematopoiesis as the cause of pulmonary hypertension and severe tricuspid regurgitation. To the best of our knowledge, this is the first description of {sup 99m} technetium sulfur colloid SPECT/CT imaging in this rare condition.

  17. Extramedullary pulmonary hematopoiesis causing pulmonary hypertension and severe tricuspid regurgitation detected by 99m technetium sulfur colloid bone marrow scan and single-photon emission computed tomography/CT

    International Nuclear Information System (INIS)

    Ali, Syed Zama; Clarke, Michael John; Kannivelu, Anbalagan; Chinchure, Dinesh; Srinivasan, Sivasubramanian

    2014-01-01

    Extramedullary pulmonary hematopoiesis is a rare entity with a limited number of case reports in the available literature only. We report the case of a 66-year-old man with known primary myelofibrosis, in whom a 99m technetium sulfur colloid bone marrow scan with single-photon emission computed tomography (SPECT)/CT revealed a pulmonary hematopoiesis as the cause of pulmonary hypertension and severe tricuspid regurgitation. To the best of our knowledge, this is the first description of 99m technetium sulfur colloid SPECT/CT imaging in this rare condition.

  18. Left Right Patterning, Evolution and Cardiac Development

    Science.gov (United States)

    Dykes, Iain M.

    2018-01-01

    Many aspects of heart development are determined by the left right axis and as a result several congenital diseases have their origins in aberrant left-right patterning. Establishment of this axis occurs early in embryogenesis before formation of the linear heart tube yet impacts upon much later morphogenetic events. In this review I discuss the differing mechanisms by which left-right polarity is achieved in the mouse and chick embryos and comment on the evolution of this system. I then discus three major classes of cardiovascular defect associated with aberrant left-right patterning seen in mouse mutants and human disease. I describe phenotypes associated with the determination of atrial identity and venous connections, looping morphogenesis of the heart tube and finally the asymmetric remodelling of the embryonic branchial arch arterial system to form the leftward looped arch of aorta and associated great arteries. Where appropriate, I consider left right patterning defects from an evolutionary perspective, demonstrating how developmental processes have been modified in species over time and illustrating how comparative embryology can aide in our understanding of congenital heart disease. PMID:29755990

  19. Left-sided native valve Staphylococcus aureus endocarditis

    NARCIS (Netherlands)

    Slabbekoorn, M.; Horlings, H. M.; van der Meer, J. T. M.; Windhausen, A.; Van der Sloot, J. A. P.; Lagrand, W. K.

    2010-01-01

    Despite improved diagnostic tools and expanded treatment options, left-sided native valve endocarditis caused by Staphylococcus aureus infection remains a serious and destructive disease. The high morbidity and mortality, however, can be reduced by early recognition, correct diagnosis, and

  20. [Left-handedness and health].

    Science.gov (United States)

    Milenković, Sanja; Belojević, Goran; Kocijancić, Radojka

    2010-01-01

    Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome), developmental disorders (autism, dislexia and sttutering) and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about "anomalous" cerebral domination, as a consequence of hormonal disbalance.

  1. Severe form of streptococcal necrotizing fasciitis of the upper limb - diagnostic and therapeutic challenge: A case report

    Directory of Open Access Journals (Sweden)

    Mikić Dragan

    2015-01-01

    Full Text Available Introduction. Since delay in recognition and effective treatment of necrotizing fasciitis (NF caused by invasive group A streptococcus increases the mortality and disability, the early diagnosis and management of this disease are essential for a better outcome. We presented a patient with a severe form of streptococcal NF of the left upper limb in whom amputation was performed as a life saving procedure. Case report. A 65-year-old man, previously healthy, suffered an injury to his left hand by sting on a fish bone. Two days after that the patient got fever, redness, swelling and pain in his left hand. Clinical examination of the patient after admission indicated NF that spread quickly to the entire left upper limb, left armpit, and the left side of the chest and abdomen. Despite the use of aggressive antibiotic and surgical therapy severe destruction of the skin and subcutaneous tissues developed with the development of gangrene of the left upper limb. In this situation, the team of specialists decided that the patient must be operated on submited to amputation of the left arm, at the shoulder. After amputation and aggressive debridement of soft tissue on the left side of the trunk, the patient completely recovered. β-hemolytic streptococcus group A was isolated from the skin and tissue obtained during the surgery. Conclusion. In the most severe forms of streptococcal NF of the extremities, adequate multidisciplinary treatment, including limb amputation, can save the life of a patient.

  2. What's Left of the Left-Right Dimension? Why the Economic Policy Positions of Europeans Do Not Fit the Left-Right Dimension.

    Science.gov (United States)

    Otjes, Simon

    2018-01-01

    In political science the economic left-right dimension plays a central role. A growing body of evidence shows that the economic policy preferences of a large segment of citizens do not scale sufficiently. Using Mokken scale analysis, this study determines the causes of this phenomenon. Differences in the extent to which the economic policy preferences of citizens fit the left-right dimension can be explained in terms of the interaction between individual level and political system-level variables: citizens who spend more attention to politicians with views that conform to the left-right dimension, have views that conform to the left-right dimension. There is also a role for the legacy of communist dictatorship: citizens who were socialised in democratic countries have views that fit the left-right dimension better than those socialised during communism.

  3. [Polymorphisms of TLR7 rs3853839 and rs179010 are associated with susceptibility to and severity of hand, foot and mouth disease caused by enterovirus 71 in male children].

    Science.gov (United States)

    Li, Yaping; Zhai, Song; Li, Mei; Wang, Yuan; Lu, Tong; Deng, Huiling; Zhang, Xin; Dang, Shuangsuo

    2017-07-01

    Objective To investigate whether the polymorphisms of TLR7/MyD88 signaling pathway is associated with the susceptibility to and severity of hand, foot and mouth disease (HFMD) caused by enterovirus 71 (EV71) in children. Methods We collected 180 EV71 HFMD cases and 201 healthy controls from both the Second Affiliated Hospital of Xi'an Jiaotong University and Xi'an Children's Hospital. The genotypes including rs3853839, rs179010 of TLR7, and rs7744 of MyD88 were detected in the 381 samples by SNPscan kit. Results The susceptibility risk (OR=2.343, 95%CI:1.516-3.621) and severity risk (OR=1.939, 95%CI: 1.064-3.521) of TLR7 rs3853839 allele C significantly increased in the male children with EV71 HFMD. Also, the susceptibility risk (OR=1.701, 95%CI: 1.142-2.535) and severity risk (OR=1.852, 95%CI: 1.038-3.305) of TLR7 rs179010 allele T significantly increased in the male children with EV71 HFMD. But there was no significant difference in the distribution of TLR7 rs179010 and rs3853839 genes between female children with EV71 HFMD and female controls. There was no correlation between the genetic polymorphisms of MyD88 rs7744 and the susceptibility to and severity of EV71 HFMD in the children. Conclusion Polymorphisms of TLR7 rs3853839 and rs179010 are correlated to the susceptibility to and severity of EV71 HFMD in male children.

  4. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    Energy Technology Data Exchange (ETDEWEB)

    Baptista, Ana, E-mail: baptista-ana@hotmail.com; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio [Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade de Vila Real (Portugal)

    2015-08-15

    Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m{sup 2} for women or ≥ 116 g/m{sup 2} for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m{sup 2} (± 28.5; 99.2 to 228.5 g/m{sup 2}] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

  5. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    International Nuclear Information System (INIS)

    Baptista, Ana; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio

    2015-01-01

    Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m 2 for women or ≥ 116 g/m 2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. A total of 47 patients with a mean left ventricular mass index of 141.1 g/m 2 (± 28.5; 99.2 to 228.5 g/m 2 ] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5)

  6. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    Directory of Open Access Journals (Sweden)

    Ana Baptista

    2015-01-01

    Full Text Available Abstract Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective: To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods: The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results: A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%. Nine (19.1% showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5, a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion: In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5.

  7. Causes of death in patients with Itai-itai disease suffering from severe chronic cadmium poisoning: a nested case-control analysis of a follow-up study in Japan.

    Science.gov (United States)

    Nishijo, Muneko; Nakagawa, Hideaki; Suwazono, Yasushi; Nogawa, Kazuhiro; Kido, Teruhiko

    2017-07-13

    To clarify the causes of deaths among patients with Itai-itai disease and severe cadmium (Cd) poisoning. Nested case-control analysis of a population-based cohort study. Database of patients with Itai-itai disease and residents of Cd-polluted areas, maintained by the Ministry of Environment, Japan. Subjects included 142 women with Itai-itai disease, 111 women with Cd-induced renal tubular dysfunction and 253 controls matched for sex, age and occupation. All subjects participated in a health impact survey between 1979 and 1984 and were followed until 30 November 2005. Adjusted HRs with 95% CIs for cause of death in women with Itai-itai disease and screened female cases with tubular dysfunction were compared with matched pair controls, using Cox's proportional hazard model. Vital statistics data were used to determine cause of death. Direct causes of death from autopsy records were used in 29 patients who died from Cd poisoning. The most common cause of death among patients with Itai-itai disease was pneumonia, with a significantly increased adjusted HR of 4.54 (95% CI 2.65 to 7.76). Renal diseases were the most common cause of death in renal tubular dysfunction cases, with an increased HR of 12.0 (95% CI 3.92 to 36.8). The adjusted HR for renal diseases was also significantly increased in patients with Itai-itai disease (19.49 (95% CI 6.43 to 59.09)), with a greater impact on mortality of patients with Itai-itai disease than screened cases. The HR for gastrointestinal (GI) diseases was significantly increased (13.79 (95% CI 3.87 to 49.10)) in patients, especially in the first 10 years (37.1 (4.81 to 286.0)). Among patients with Itai-itai disease, pneumonia and GI diseases contributed to increased mortality risk. Renal disease is also a significant mortality risk in patients with Itai-itai disease and women with renal tubular dysfunction. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No

  8. Left-Deviating Prism Adaptation in Left Neglect Patient: Reflexions on a Negative Result

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    Jacques Luauté

    2012-01-01

    Full Text Available Adaptation to right-deviating prisms is a promising intervention for the rehabilitation of patients with left spatial neglect. In order to test the lateral specificity of prism adaptation on left neglect, the present study evaluated the effect of left-deviating prism on straight-ahead pointing movements and on several classical neuropsychological tests in a group of five right brain-damaged patients with left spatial neglect. A group of healthy subjects was also included for comparison purposes. After a single session of exposing simple manual pointing to left-deviating prisms, contrary to healthy controls, none of the patients showed a reliable change of the straight-ahead pointing movement in the dark. No significant modification of attentional paper-and-pencil tasks was either observed immediately or 2 hours after prism adaptation. These results suggest that the therapeutic effect of prism adaptation on left spatial neglect relies on a specific lateralized mechanism. Evidence for a directional effect for prism adaptation both in terms of the side of the visuomanual adaptation and therefore possibly in terms of the side of brain affected by the stimulation is discussed.

  9. Quantitation of global and regional left ventricular function by MRI

    NARCIS (Netherlands)

    van der Geest, RJ; Reiber, JHC; Reiber, JHC; VanDerWall, EE

    1998-01-01

    Magnetic resonance imaging (MRI) provides several imaging strategies for assessing left ventricular function. As a three-dimensional imaging technique, all measurements can be performed without relying on geometrical assumptions. Global and regional function parameters can be derived from

  10. Left-handedness and health

    Directory of Open Access Journals (Sweden)

    Milenković Sanja

    2010-01-01

    Full Text Available Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome, developmental disorders (autism, dislexia and sttutering and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about 'anomalous' cerebral domination, as a consequence of hormonal disbalance. .

  11. Left ventricular function in right ventricular overload

    International Nuclear Information System (INIS)

    Iwanaga, Shiro; Handa, Shunnosuke; Abe, Sumihisa; Onishi, Shohei; Nakamura, Yoshiro; Kunieda, Etsuo; Ogawa, Koichi; Kubo, Atsushi

    1989-01-01

    This study clarified regional and global functions of the distorted left ventricle due to right ventricular overload by gated radionuclide ventriculography (RNV). Cardiac catheterization and RNV were performed in 13 cases of atrial septal defect (ASD), 13 of pure mitral stenosis (MS), 10 of primary pulmonary hypertension (PPH), and 10 of normal subjects (NL). Right ventricular systolic pressure (RVSP) was 32.9±13.9, 45.0±12.2, 88.3±17.1, and 21.2±4.5 mmHg, respectively. The end-systolic LAO view of the left ventricle was halved into septal and free-wall sides. The end-diastolic halves were determined in the same plane. Ejection fractions of the global left ventricle (LVEF), global right ventricle (RVEF), the septal half of the left ventricle (SEPEF), and the free-wall half of the left ventricle (FWEF) were obtained. LVEF was 56.8±9.8% in NL, 52.8±10.5% in ASD, and 49.5±12.9% in PPH. In MS, LVEF (47.0±13.0%) was smaller than those in the other groups. RVEF was 37.0±5.2% in NL, 43.7±15.5% in ASD, and 32.8±11.5% in MS. In PPH, RVEF (25.0±10.6%) was smaller than those in the other groups. SEPEF was smaller in ASD (42.5±13.2%), MS (40.4±13.1%), PPH (40.5±12.5%) than in NL (53.5±8.5%). Systolic function of the septal half of the left ventricle was disturbed by right ventricular overload. RVEF (r=-0.35, p<0.05) and SEPEF (r=-0.51, p<0.01) had negative correlations with RVSP. As RVSP rose, systolic function of the septal half of the left ventricle was more severely disturbed. FWEF was the same among the four groups; NL (57.0±12.6%), ASD (48.6±15.2%), MS (50.5±12.0%), and PPH (51.1±12.3%). There was a good correlation between SEPEF and LVEF in NL (r=0.81), although in PPH this correlation was poor (r=0.64). These data showed that the distorted left ventricular due to right ventricular overload maintains its global function with preserved function of the free-wall side. (J.P.N.)

  12. The History of Left Septal Fascicular Block: Chronological Considerations of a Reality Yet to be Universally Accepted

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    Andres Ricardo Perez Riera

    2008-04-01

    Full Text Available There are several papers in literature that prove in a conclusive and incontestable way, that the left branch of the His bundle, in most instances (85% of the cases splits into three fascicles of variable morphological pattern, and not into two: left anterior fascicle (LAF, left posterior fascicle (LPF, and left septal fascicle (LSF. The abovementioned papers have anatomical, histological, anatomo-pathological, electrocardiographic, and vectocardiographic, body surface potential mapping or ECG potential mapping and electrophysiological foundation. Additionally, the mentioned papers have been performed both in animal models (dogs and in the human heart. Several clinical papers have shown that the left septal fascicular block (LSFB may occur intermittently or transitorily as a consequence of a temporary dromotropic alteration, constituting an aberrant ventricular conduction, rate-dependent or by the application of atrial extra-stimuli, or naturally during the acute phase of infarction when this involves the anterior descending artery, before the septal perforating artery that supplies the central portion of the septum, where the mentioned LSF runs. The ECG/VCG manifestation of LSFB consists in anterior shift of electromotive forces, known as Prominent Anterior Forces (PAF, which can hardly be diagnosed in the clinical absence of other causes capable of causing PAF, such as the normal variant by counterclockwise rotation of the heart on its longitudinal axis, in right ventricular enlargement, in the dorsal or lateral infarction of the new nomenclature, in type-A WPW, in CRBBB, and others. In this historical manuscript, we review in a sequential fashion, the main findings that confirmed the unequivocal existence of this unjustifiably "forgotten" dromotropic disorder. In the developed countries, its most important cause is coronary insufficiency, particularly the proximal involvement of the left anterior descending coronary artery, and in Latin

  13. Left-right subtraction of brain CT

    International Nuclear Information System (INIS)

    Ishiguchi, Tsuneo; Sakuma, Sadayuki

    1986-01-01

    A new image-processing method to obtain a left-right subtraction image of CT was designed for the automated detection of abnormalities in brain CT. An original CT image was divided in two by a centerline. Then the right half of the image was subtracted from the left half by calculating the absorption value of the pixels on the symmetrical positions against the centerline. The mean and the standard deviation of the absorption value of the pixels in the subtraction image were used as parameters for analysis, and the detectability of abnormal CT findings was evaluated in 100 cases - 50 cases each with normal and abnormal CT. The presence of abnormalities could be diagnosed with a sensitivity of 86 %, a specificity of 90 %, and an overall accuracy of 88 % when the borderline of these parameters between normal and abnormal CT was set at the mean + 2SD in the normal group. As a further analysis, the CT image was subdivided into several areas from a functional or anatomical viewpoint, such as cerebral vascular territories, and the left-right subtraction image of each area was obtained. The possibilities of diagnosing the location of an abnormality and of detecting smaller lesions with this method were shown. Left-right subtraction was considered to be a useful method for the detection of asymmetric abnormalities in the automated diagnosis of brain CT. (author)

  14. The effect of gender, age, and symptom severity in late-life depression on the risk of all-cause mortality: The Bambuí Cohort Study of Aging

    Science.gov (United States)

    Diniz, Breno S.; Reynolds, Charles F.; Butters, Meryl A.; Dew, Mary Amanda; Firmo, Josélia O. A.; Lima-Costa, Maria Fernanda; Castro-Costa, Erico

    2014-01-01

    Background Increased mortality risk and its moderators is an important, but still under recognized, negative outcome of Late-Life Depression (LLD). Therefore, we aimed to evaluate whether LLD is a risk factor for all-cause mortality in a population-based study with over ten years of follow-up, and addressed the moderating effect of gender and symptom severity on mortality risk. Methods This analysis used data from the Bambuí Cohort Study of Aging. The study population comprised 1.508 (86.5%) of all eligible 1.742 elderly residents. Depressive symptoms were annually evaluated by the GHQ-12, with scores of 5 or higher indicating clinically significant depression. From 1997 to 2007, 441 participants died during 10,648 person-years of follow-up. We estimated the hazard ratio for mortality risk by Cox regression analyses. Results Depressive symptoms were a risk factor for all-cause mortality after adjusting for confounding lifestyle and clinical factors (adjusted HR=1.24 CI95% [1.00–1.55], p=0.05). Mortality risk was significantly elevated in men (adjusted HR=1.45 CI95% [1.01 – 2.07], p=0.04), but not in women (adjusted HR=1.13 CI95% [0.84 – 1.48], p=0.15). We observed a significant interaction between gender and depressive symptoms on mortality risk ((HR= 1.72 CI95% [1.18 – 2.49], p=0.004). Conclusion The present study provides evidence that LLD is a risk factor for all-cause mortality in the elderly, especially in men. The prevention and adequate treatment of LLD may help to reduce premature disability and death among elders with depressive symptoms. PMID:24353128

  15. Correção endovascular de aneurisma de aorta abdominal e artéria ilíaca comum esquerda em paciente com hemofilia C grave Endovascular repair of abdominal aortic aneurysm and left common iliac artery in a patient with severe hemophilia C

    Directory of Open Access Journals (Sweden)

    Sergio Quilici Belczak

    2012-03-01

    Full Text Available A deficiência do fator XI, também conhecida como hemofilia C, é uma doença hematológica hereditária rara, que se manifesta clinicamente com hemorragia persistente após cirurgias, traumas, menorragias e extrações dentárias. Neste artigo, relatou-se a correção endovascular de um paciente com aneurisma de aorta e de artéria ilíaca comum esquerda em um paciente portador de deficiência major do fator XI (atividade do fator XI inferior a 20%. O procedimento foi realizado com sucesso, com o manuseio do distúrbio da coagulação por meio da infusão de plasma fresco no pré-operatório imediato e no pós-operatório, e controle laboratorial da coagulação do paciente.Factor XI deficiency, also known as hemophilia C, is a rare hereditary blood disease that manifests with persistent bleeding after surgery, trauma, menorrhagia, and dental extractions. This article reports an endovascular repair of a patient diagnosed with an aortic and left common iliac aneurysm, with severe factor XI deficiency (factor XI activity below 20%. The procedure was successfully performed with management of the coagulation disorder by preoperative and postoperative infusion of plasma and laboratory control of the coagulation.

  16. [Left postpneumonectomy syndrome: early endoscopic treatment].

    Science.gov (United States)

    Rombolá, Carlos A; León Atance, Pablo; Honguero Martínez, Antonio Francisco; Rueda Martínez, Juan Luis; Núñez Ares, Ana; Vizcaya Sánchez, Manuel

    2009-12-01

    Postpneumonectomy syndrome is characterized by postoperative bronchial obstruction caused by mediastinal shift. The syndrome is well documented in the medical literature as a late complication of right pneumonectomy; however, it rarely occurs following resection of the left lung, and only 10 cases have been published. The pathophysiology, clinical manifestations, prognosis, and treatment are similar for both sides of the lung. We present the case of an adult patient who underwent left pneumonectomy and developed postpneumonectomy syndrome 15 months later. Stenosis of the intermediate bronchus occurred between the vertebral body and the right pulmonary artery. Endoscopic treatment with a self-expanding metal stent was successful, and complete remission was observed over the 6 months of follow-up.

  17. Myocardial ischemia in severe aortic regurgitation despite angiographically normal coronary arteries

    International Nuclear Information System (INIS)

    Aksoy, S.; Cam, N.; Guney, M.R.; Gurkan, U.; Oz, D.; Poyraz, E.; Eksik, A.; Agirbasli, M.

    2012-01-01

    Patients with severe aortic regurgitation frequently present with angina pectoris. The exact pathophysiology for angina in aortic regurgitation is not clear. Left ventricular hypertrophy and myocardial blood supply-demand mismatch have been the suggested mechanisms to explain ischemia. However, no conclusive clinical study exists to define the incidence of ischemia in patients with severe aortic regurgitation and normal coronary arteries. We, therefore, investigated the frequency of myocardial ischemia in relation to left ventricular hypertrophy or dilatation in patients with severe aortic regurgitation and normal coronary arteries. We reviewed the medical records of all patients (n=311) with aortic valve replacement due to aortic regurgitation between 2007 and 2010. We selected subjects with normal coronary arteries (n=182) for the study purpose, and we identified 35 patients who underwent myocardial perfusion scintigraphy prior to the coronary angiography (19 female and 16 male subjects; age 45.0±8.9 years). Left ventricular hypertrophy and dilatation were detected in 9 (26%) and 5 (14%) patients, respectively. Myocardial perfusion scintigraphy showed evidence of ischemia in 10 (29%) patients with normal coronary arteries. The presence of ischemia did not relate to the presence of left ventricular hypertrophy and/or dilatation. As a potential mechanism, aortic regurgitation causes backflow of blood from the aorta into the left ventricle, hence disturbs coronary flow dynamics. In conclusion, myocardial ischemia is common (nearly one-third) among patients with severe aortic regurgitation even in the absence of coronary obstruction, left ventricular hypertrophy and/or dilatation. (author)

  18. Complicated left-sided native valve endocarditis in adults: risk classification for mortality.

    Science.gov (United States)

    Hasbun, Rodrigo; Vikram, Holenarasipur R; Barakat, Lydia A; Buenconsejo, Joan; Quagliarello, Vincent J

    2003-04-16

    Complicated left-sided native valve endocarditis causes significant morbidity and mortality in adults. Lack of valid data regarding estimation of prognosis makes management of this condition difficult. To derive and externally validate a prognostic classification system for adults with complicated left-sided native valve endocarditis. Retrospective observational cohort study conducted from January 1990 to January 2000 at 7 Connecticut hospitals among 513 patients older than 16 years who experienced complicated left-sided native valve endocarditis and who were divided into derivation (n = 259) and validation (n = 254) cohorts. All-cause mortality at 6 months after baseline. In the derivation and validation cohorts, the 6-month mortality rates were 25% and 26%, respectively. Five baseline features were independently associated with 6-month mortality (comorbidity [P =.03], abnormal mental status [P =.02], moderate to severe congestive heart failure [P =.01], bacterial etiology other than viridans streptococci [Pclassification system. In the derivation cohort, patients were classified into 4 groups with increasing risk for 6-month mortality: 5%, 15%, 31%, and 59% (Pendocarditis can be accurately risk stratified using baseline features into 4 groups of prognostic severity. This prognostic classification system might be useful for facilitating management decisions.

  19. Distinctive Structural and Effective Connectivity Changes of Semantic Cognition Network across Left and Right Mesial Temporal Lobe Epilepsy Patients

    Directory of Open Access Journals (Sweden)

    Xiaotong Fan

    2016-01-01

    Full Text Available Occurrence of language impairment in mesial temporal lobe epilepsy (mTLE patients is common and left mTLE patients always exhibit a primary problem with access to names. To explore different neuropsychological profiles between left and right mTLE patients, the study investigated both structural and effective functional connectivity changes within the semantic cognition network between these two groups and those from normal controls. We found that gray matter atrophy of left mTLE patients was more severe than that of right mTLE patients in the whole brain and especially within the semantic cognition network in their contralateral hemisphere. It suggested that seizure attacks were rather targeted than random for patients with hippocampal sclerosis (HS in the dominant hemisphere. Functional connectivity analysis during resting state fMRI revealed that subregions of the anterior temporal lobe (ATL in the left HS patients were no longer effectively connected. Further, we found that, unlike in right HS patients, increased causal linking between ipsilateral regions in the left HS epilepsy patients cannot make up for their decreased contralateral interaction. It suggested that weakened contralateral connection and disrupted effective interaction between subregions of the unitary, transmodal hub of the ATL may be the primary cause of anomia in the left HS patients.

  20. Distinctive Structural and Effective Connectivity Changes of Semantic Cognition Network across Left and Right Mesial Temporal Lobe Epilepsy Patients

    Science.gov (United States)

    Fan, Xiaotong; Shang, Kun; Wang, Xiaocui; Wang, Peipei; Shan, Yongzhi; Lu, Jie

    2016-01-01

    Occurrence of language impairment in mesial temporal lobe epilepsy (mTLE) patients is common and left mTLE patients always exhibit a primary problem with access to names. To explore different neuropsychological profiles between left and right mTLE patients, the study investigated both structural and effective functional connectivity changes within the semantic cognition network between these two groups and those from normal controls. We found that gray matter atrophy of left mTLE patients was more severe than that of right mTLE patients in the whole brain and especially within the semantic cognition network in their contralateral hemisphere. It suggested that seizure attacks were rather targeted than random for patients with hippocampal sclerosis (HS) in the dominant hemisphere. Functional connectivity analysis during resting state fMRI revealed that subregions of the anterior temporal lobe (ATL) in the left HS patients were no longer effectively connected. Further, we found that, unlike in right HS patients, increased causal linking between ipsilateral regions in the left HS epilepsy patients cannot make up for their decreased contralateral interaction. It suggested that weakened contralateral connection and disrupted effective interaction between subregions of the unitary, transmodal hub of the ATL may be the primary cause of anomia in the left HS patients. PMID:28018680

  1. Cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans.

    Directory of Open Access Journals (Sweden)

    Dania eVecchia

    2015-02-01

    Full Text Available Familial hemiplegic migraine type 1 (FHM1 is caused by gain-of-function mutations in CaV2.1 (P/Q-type Ca2+ channels. Knockin (KI mice carrying the FHM1 R192Q missense mutation show enhanced cortical excitatory synaptic transmission at pyramidal cell synapses but unaltered cortical inhibitory neurotransmission at fast-spiking interneuron synapses. Enhanced cortical glutamate release was shown to cause the facilitation of cortical spreading depression (CSD in R192Q KI mice. It, however, remains unknown how other FHM1 mutations affect cortical synaptic transmission. Here, we studied neurotransmission in cortical neurons in microculture from KI mice carrying the S218L mutation, which causes a severe FHM syndrome in humans and an allele-dosage dependent facilitation of experimental CSD in KI mice, which is larger than that caused by the R192Q mutation. We show gain-of-function of excitatory neurotransmission, due to increased action-potential evoked Ca2+ influx and increased probability of glutamate release at pyramidal cell synapses, but unaltered inhibitory neurotransmission at multipolar interneuron synapses in S218L KI mice. In contrast with the larger gain-of-function of neuronal CaV2.1 current in homozygous than heterozygous S218L KI mice, the gain-of-function of evoked glutamate release, the paired-pulse ratio and the Ca2+ dependence of the EPSC were all similar in homozygous and heterozygous S218L KI mice, suggesting compensatory changes in the homozygous mice. Furthermore, we reveal a unique feature of S218L KI cortical synapses which is the presence of a fraction of mutant CaV2.1 channels being open at resting potential. Our data suggest that, while the gain-of-function of evoked glutamate release may explain the facilitation of CSD in heterozygous S218L KI mice, the further facilitation of CSD in homozygous S218L KI mice is due to other CaV2.1-dependent mechanisms, that likely include Ca2+ influx at voltages sub-threshold for action

  2. Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans

    Science.gov (United States)

    Vecchia, Dania; Tottene, Angelita; van den Maagdenberg, Arn M.J.M.; Pietrobon, Daniela

    2015-01-01

    Familial hemiplegic migraine type 1 (FHM1) is caused by gain-of-function mutations in CaV2.1 (P/Q-type) Ca2+ channels. Knockin (KI) mice carrying the FHM1 R192Q missense mutation show enhanced cortical excitatory synaptic transmission at pyramidal cell synapses but unaltered cortical inhibitory neurotransmission at fast-spiking interneuron synapses. Enhanced cortical glutamate release was shown to cause the facilitation of cortical spreading depression (CSD) in R192Q KI mice. It, however, remains unknown how other FHM1 mutations affect cortical synaptic transmission. Here, we studied neurotransmission in cortical neurons in microculture from KI mice carrying the S218L mutation, which causes a severe FHM syndrome in humans and an allele-dosage dependent facilitation of experimental CSD in KI mice, which is larger than that caused by the R192Q mutation. We show gain-of-function of excitatory neurotransmission, due to increased action-potential evoked Ca2+ influx and increased probability of glutamate release at pyramidal cell synapses, but unaltered inhibitory neurotransmission at multipolar interneuron synapses in S218L KI mice. In contrast with the larger gain-of-function of neuronal CaV2.1 current in homozygous than heterozygous S218L KI mice, the gain-of-function of evoked glutamate release, the paired-pulse ratio and the Ca2+ dependence of the excitatory postsynaptic current were similar in homozygous and heterozygous S218L KI mice, suggesting compensatory changes in the homozygous mice. Furthermore, we reveal a unique feature of S218L KI cortical synapses which is the presence of a fraction of mutant CaV2.1 channels being open at resting potential. Our data suggest that, while the gain-of-function of evoked glutamate release may explain the facilitation of CSD in heterozygous S218L KI mice, the further facilitation of CSD in homozygous S218L KI mice is due to other CaV2.1-dependent mechanisms, that likely include Ca2+ influx at voltages sub-threshold for action

  3. Transcortical mixed aphasia due to cerebral infarction in left inferior frontal lobe and temporo-parietal lobe

    Energy Technology Data Exchange (ETDEWEB)

    Maeshima, S.; Matsumoto, T.; Ueyoshi, A. [Department of Physical Medicine and Rehabilitation, Wakayama Medical University, Wakayama (Japan); Toshiro, H.; Sekiguchi, E.; Okita, R.; Yamaga, H.; Ozaki, F.; Moriwaki, H. [Department of Neurological Surgery, Hidaka General Hospital, Wakayama (Japan); Roger, P. [School of Communication Sciences and Disorders, University of Sydney, Sydney, NSW (Australia)

    2002-02-01

    We present a case of transcortical mixed aphasia caused by a cerebral embolism. A 77-year-old right-handed man was admitted to our hospital with speech disturbance and a right hemianopia. His spontaneous speech was remarkably reduced, and object naming, word fluency, comprehension, reading and writing were all severely disturbed. However, repetition of phonemes and sentences and reading aloud were fully preserved. Although magnetic resonance imaging (MRI) showed cerebral infarcts in the left frontal and parieto-occipital lobe which included the inferior frontal gyrus and angular gyrus, single photon emission CT revealed a wider area of low perfusion over the entire left hemisphere except for part of the left perisylvian language areas. The amytal (Wada) test, which was performed via the left internal carotid artery, revealed that the left hemisphere was dominant for language. Hence, it appears that transcortical mixed aphasia may be caused by the isolation of perisylvian speech areas, even if there is a lesion in the inferior frontal gyrus, due to disconnection from surrounding areas. (orig.)

  4. Transcortical mixed aphasia due to cerebral infarction in left inferior frontal lobe and temporo-parietal lobe

    International Nuclear Information System (INIS)

    Maeshima, S.; Matsumoto, T.; Ueyoshi, A.; Toshiro, H.; Sekiguchi, E.; Okita, R.; Yamaga, H.; Ozaki, F.; Moriwaki, H.; Roger, P.

    2002-01-01

    We present a case of transcortical mixed aphasia caused by a cerebral embolism. A 77-year-old right-handed man was admitted to our hospital with speech disturbance and a right hemianopia. His spontaneous speech was remarkably reduced, and object naming, word fluency, comprehension, reading and writing were all severely disturbed. However, repetition of phonemes and sentences and reading aloud were fully preserved. Although magnetic resonance imaging (MRI) showed cerebral infarcts in the left frontal and parieto-occipital lobe which included the inferior frontal gyrus and angular gyrus, single photon emission CT revealed a wider area of low perfusion over the entire left hemisphere except for part of the left perisylvian language areas. The amytal (Wada) test, which was performed via the left internal carotid artery, revealed that the left hemisphere was dominant for language. Hence, it appears that transcortical mixed aphasia may be caused by the isolation of perisylvian speech areas, even if there is a lesion in the inferior frontal gyrus, due to disconnection from surrounding areas. (orig.)

  5. Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis.

    Science.gov (United States)

    Fujii, Y; Nishimoto, Y; Sunahara, H; Takano, H; Aoki, T

    2012-01-01

    Right-to-left (R-L) shunt caused by patent foramen ovale (PFO) concurrent with pulmonic stenosis (PS) is considered common, although there is a lack of published evidence. To investigate the prevalence of R-L shunt caused by a PFO in dogs with PS. Thirty-one client-owned dogs with PS, without obvious extracardiac disease detected on the clinical examinations. Case control study: R-L shunt probably caused by PFO was diagnosed when IV injected microbubbles appeared at the left atrial level with an intact atrial septum on echocardiography (bubble-positive dogs). The severity of PS concurrent tricuspid regurgitation (TR), relative thickness of the right ventricle, and relative right atrial area were compared between bubble-positive and bubble-negative dogs. The prevalence of R-L shunts caused by PFO was 39% (12 of 31 cases). The instantaneous pressure gradient (PG) across the pulmonic valve and relative thickness of the right ventricle were significantly increased in bubble-positive compared with those in bubble-negative dogs. None of the dogs with mild or moderate PS (pressure gradient dogs was significantly higher than that in bubble-negative dogs. DISCUSSION AND CLINICAL RELEVANCE: Patent foramen ovale PFO with R-L shunt was more common in dogs with very severe PS and absent in dogs with mild PS. Copyright © 2011 by the American College of Veterinary Internal Medicine.

  6. Left ventricular function in chronic aortic regurgitation

    International Nuclear Information System (INIS)

    Iskandrian, A.S.; Hakki, A.H.; Manno, B.; Amenta, A.; Kane, S.A.

    1983-01-01

    Left ventricular performance was determined in 42 patients with moderate or severe aortic regurgitation during upright exercise by measuring left ventricular ejection fraction and volume with radionuclide ventriculography. Classification of the patients according to exercise tolerance showed that patients with normal exercise tolerance (greater than or equal to 7.0 minutes) had a significantly higher ejection fraction at rest (probability [p] . 0.02) and during exercise (p . 0.0002), higher cardiac index at exercise (p . 0.0008) and lower exercise end-systolic volume (p . 0.01) than did patients with limited exercise tolerance. Similar significant differences were noted in younger patients compared with older patients in ejection fraction at rest and exercise (both p . 0.001) and cardiac index at rest (p . 0.03) and exercise (p . 0.0005). The end-diastolic volume decreased during exercise in 60% of the patients. The patients with a decrease in volume were significantly younger and had better exercise tolerance and a larger end-diastolic volume at rest than did patients who showed an increase in volume. The mean corrected left ventricular end-diastolic radius/wall thickness ratio was significantly greater in patients with abnormal than in those with normal exercise reserve (mean +/- standard deviation 476 +/- 146 versus 377 +/- 92 mm Hg, p less than 0.05). Thus, in patients with chronic aortic regurgitation: 1) left ventricular systolic function during exercise was related to age, exercise tolerance and corrected left ventricular end-diastolic radius/wall thickness ratio, and 2) the end-diastolic volume decreased during exercise, especially in younger patients and patients with normal exercise tolerance or a large volume at rest

  7. Left bundle-branch block

    DEFF Research Database (Denmark)

    Risum, Niels; Strauss, David; Sogaard, Peter

    2013-01-01

    The relationship between myocardial electrical activation by electrocardiogram (ECG) and mechanical contraction by echocardiography in left bundle-branch block (LBBB) has never been clearly demonstrated. New strict criteria for LBBB based on a fundamental understanding of physiology have recently...

  8. Producing The New Regressive Left

    DEFF Research Database (Denmark)

    Crone, Christine

    members, this thesis investigates a growing political trend and ideological discourse in the Arab world that I have called The New Regressive Left. On the premise that a media outlet can function as a forum for ideology production, the thesis argues that an analysis of this material can help to trace...... the contexture of The New Regressive Left. If the first part of the thesis lays out the theoretical approach and draws the contextual framework, through an exploration of the surrounding Arab media-and ideoscapes, the second part is an analytical investigation of the discourse that permeates the programmes aired...... becomes clear from the analytical chapters is the emergence of the new cross-ideological alliance of The New Regressive Left. This emerging coalition between Shia Muslims, religious minorities, parts of the Arab Left, secular cultural producers, and the remnants of the political,strategic resistance...

  9. Left main percutaneous coronary intervention.

    Science.gov (United States)

    Teirstein, Paul S; Price, Matthew J

    2012-10-23

    The introduction of drug-eluting stents and advances in catheter techniques have led to increasing acceptance of percutaneous coronary intervention (PCI) as a viable alternative to coronary artery bypass graft (CABG) for unprotected left main disease. Current guidelines state that it is reasonable to consider unprotected left main PCI in patients with low to intermediate anatomic complexity who are at increased surgical risk. Data from randomized trials involving patients who are candidates for either treatment strategy provide novel insight into the relative safety and efficacy of PCI for this lesion subset. Herein, we review the current data comparing PCI with CABG for left main disease, summarize recent guideline recommendations, and provide an update on technical considerations that may optimize clinical outcomes in left main PCI. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  10. Heart Failure with Transient Left Bundle Branch Block in the Setting of Left Coronary Fistula

    Directory of Open Access Journals (Sweden)

    Stephen P. Juraschek

    2011-01-01

    Full Text Available Coronary arterial fistulas are rare communications between vessels or chambers of the heart. Although cardiac symptoms associated with fistulas are well described, fistulas are seldom considered in the differential diagnosis of acute myocardial ischemia. We describe the case of a 64-year-old man who presented with left shoulder pain, signs of heart failure, and a new left bundle branch block (LBBB. Cardiac catheterization revealed a small left anterior descending (LAD-to-pulmonary artery (PA fistula. Diuresis led to subjective improvement of the patient's symptoms and within several days the LBBB resolved. We hypothesize that the coronary fistula in this patient contributed to transient ischemia of the LAD territory through a coronary steal mechanism. We elected to observe rather than repair the fistula, as his symptoms and ECG changes resolved with treatment of his heart failure.

  11. Left ventricular apical ballooning syndrome

    International Nuclear Information System (INIS)

    Rahman, N.; Tai, J.; Soofi, A.

    2007-01-01

    The transient left ventricular apical ballooning syndrome, also known as Takotsubo cardiomyopathy, is characterized by transient left ventricular dysfunction in the absence of obstructive epicardial coronary disease. Although the syndrome has been reported in Japan since 1990, it is rare in other regions. Rapid recognition of the syndrome can modify the diagnostic and therapeutic attitude i.e. avoiding thrombolysis and performing catheterization in the acute phase. (author)

  12. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

    Science.gov (United States)

    Seeman, Pavel; Paderova, Katerina; Benes, Vladimir; Sistermans, Erik A

    2002-02-01

    Pelizaeus Merzbacher disease (PMD) is an X-linked recessive disorder of the central nervous system myelination caused by mutations involving the proteolipid protein gene (PLP). Early nystagmus and developmental delay, progressive pyramidal, cerebellar and dystonic signs as well as white matter changes in brain MRI are typical for PMD. The PLP gene can be affected by two major types of mutations. A duplication of the whole PLP gene is the most common mutation and results usually in the milder classical phenotype, whereas point mutations in PLP gene often result in the rarer and more severe connatal form of PMD. The PLP protein is a higly conserved across species and is identical in human, mouse and rat. We describe a 13-year-old Czech boy with an early and severe developmental delay. His maternal uncle died at the age of one year and was also early and severely psychomotoricly retarded. The patient was the first child of healthy unrelated parents born after an uneventful pregnancy and delivery in 1988. Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks. White matter abnormalities, cortical and periventricular atrophy were detected by MRI at the age of 6 and 11 years, respectively. Despite these signs and results an accurate clinical diagnosis was unclear until the age of 11 years. Last neurological examination in 1999 showed no nystagmus anymore, but extremely dystrophic limbs, truncal deformation, due to severe scoliosis, tetraplegia with hyperreflexia in C5C7 and areflexia L2S2 and positive pyramidal signs. The boy had no visual or speech contact. DNA tests followed the clinical suspicion for PMD. At first, duplication of PLP gene was excluded by quantitative comparative PCR. Direct sequencing of PLP gene detected a novel mutation in exon 6, a missense mutation 725C-->A (Ala242Glu

  13. Right colon cancer: Left behind.

    Science.gov (United States)

    Gervaz, P; Usel, M; Rapiti, E; Chappuis, P; Neyroud-Kaspar, I; Bouchardy, C

    2016-09-01

    Prognosis of colon cancer (CC) has steadily improved during the past three decades. This trend, however, may vary according to proximal (right) or distal (left) tumor location. We studied if improvement in survival was greater for left than for right CC. We included all CC recorded at the Geneva population-based registry between 1980 and 2006. We compared patients, tumor