Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegia.

Abstract:

BACKGROUND:Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy due to mutations in the kinesin motor protein gene KIF21A. - RESULTS:We present a 60-year old patient with CFEOM1 due to the common C2860T mutation in KIF21A. At the age of 37, he complained about newly occurred diplopia, which implies the capability of binocular vision before. The divergence of both globes progressed and the poor residual movement on attempted adduction and upgaze completely disappeared during the sixths decade. Clinical and electromyographic examination showed isolated involvement of the oculomotor nerve. - CONCLUSION:Apparently, progression of impaired ocular motility is not contradictory to the diagnosis of this congenital developmental disorder. Mechanical, contracture-like mechanisms as known from other types of strabism or persistent overuse of the reduced number of oculomotor a-motoneurons are generally considered as a reason for clinical progression. However, regarding the underlying known molecular basis of CFEOM1, a continuous disease progression due to the kinesin dysfunction cannot be excluded.

journal_name

Eur J Med Res

authors

Hanisch F,Bau V,Zierz S

subject

Has Abstract

pub_date

2005-08-17 00:00:00

pages

366-8

issue

8

eissn

0949-2321

issn

2047-783X

journal_volume

10

pub_type

杂志文章
  • The influence of electromagnetic fields on human brain activity.

    abstract::Possible effects of electromagnetic fields on human brain activity were studied. In a single-blind, cross-over-designed and placebo-controlled study 36 volunteers were exposed firstly to an electromagnetic field originating form a MediLine "MEGA-WAVE 150/1" therapy instrument and secondly to a field originating from a...

    journal_title:European journal of medical research

    pub_type: 临床试验,杂志文章

    doi:

    authors: Reiser H,Dimpfel W,Schober F

    更新日期:1995-10-16 00:00:00

  • Inhibitory effect of heparin on neutrophil phagocytosis and burst production using a new whole-blood cytofluorometric method for determination.

    abstract::The influence of heparin on Polymorphonuclear (PMN s) leukocytes was investigated using a new whole-blood cytofluorometric method (patent granted for the test with the number P 4334935.8-41) with Candida albicans and Staphylococcus aureus as test microorganisms. After comparing the effect of equal volumes of two widel...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Salih H,Husfeld L,Adam D

    更新日期:1997-12-31 00:00:00

  • Sputum myeloperoxidase in chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Airway inflammation, especially neutrophilic airway inflammation, is a cardinal pathophysiologic feature in chronic obstructive pulmonary disease (COPD) patients. The ideal biomarkers characterizing the inflammation might have important potential clinical applications in disease assessment and therapeutic in...

    journal_title:European journal of medical research

    pub_type: 杂志文章,meta分析

    doi:10.1186/2047-783X-19-12

    authors: Zhu A,Ge D,Zhang J,Teng Y,Yuan C,Huang M,Adcock IM,Barnes PJ,Yao X

    更新日期:2014-03-03 00:00:00

  • Lung flooding enables efficient lung sonography and tumour imaging in human ex vivo and porcine in vivo lung cancer model.

    abstract:BACKGROUND:Sonography has become the imaging technique of choice for guiding intraoperative interventions in abdominal surgery. Due to artefacts from residual air content, however, videothoracoscopic and open intraoperative ultrasound-guided thermoablation of lung malignancies are impossible. Lung flooding is a new met...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783X-18-23

    authors: Lesser TG,Schubert H,Bischoff S,Wolfram F

    更新日期:2013-07-10 00:00:00

  • The non-invasive (13)C-methionine breath test detects hepatic mitochondrial dysfunction as a marker of disease activity in non-alcoholic steatohepatitis.

    abstract:INTRODUCTION:Mitochondrial dysfunction plays a central role in the general pathogenesis of non-alcoholic fatty liver disease (NAFLD), increasing the risk of developing steatosis and subsequent hepatocellular inflammation. We aimed to assess hepatic mitochondrial function by a non-invasive (13)C-methionine breath test (...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783x-16-6-258

    authors: Banasch M,Ellrichmann M,Tannapfel A,Schmidt WE,Goetze O

    更新日期:2011-06-21 00:00:00

  • Alexithymia, emotion processing and social anxiety in adults with ADHD.

    abstract:OBJECTIVE:given sparse research on the issue, this study sought to shed light upon the interactions of alexithymia, emotion processing, and social anxiety in adults with attention-deficit hyperactivity disorder (ADHD). SUBJECTS AND METHODS:73 German adults with ADHD according to DSM-IV diagnostic criteria participated...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783x-15-9-403

    authors: Edel MA,Rudel A,Hubert C,Scheele D,Brüne M,Juckel G,Assion HJ

    更新日期:2010-09-24 00:00:00

  • Alternative management of the left subclavian artery in thoracic endovascular aortic repair for aortic dissection: a single-center experience.

    abstract:BACKGROUND:Since the new 2009 guidelines for left subclavian artery (LSA) management using thoracic endovascular aortic repair (TEVAR), a few studies have been published about alternative LSA management. The objective of this study was to present the follow-up results of covered or revascularized LSA during TEVAR. MET...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/s40001-015-0147-z

    authors: Zhang L,Lu Q,Zhou J,Jing Z,Zhao Z,Bao J

    更新日期:2015-05-31 00:00:00

  • Superior safety of reboxetine over amitryptiline in the elderly.

    abstract::Under antidepressive treatment with amitryptiline (100 mg/d) a 71-year old woman developed delirious symptoms, hyponatremia and a grand mal seizure followed by cardiovascular arrest. A few month later she ingested 48 mg reboxetine with suicidal intent. Overdosing of reboxetine, a selective noradrenaline re-uptake inhi...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Agelink MW,Ullrich H,Passenberg P,Sayar K,Brockmeyer NH

    更新日期:2002-09-30 00:00:00

  • Hypoxia-induced MTA1 promotes MC3T3 osteoblast growth but suppresses MC3T3 osteoblast differentiation.

    abstract:BACKGROUND:Bone fracture is one of the most common physical injuries in which gene expression and the microenvironment are reprogramed to facilitate the recovery process. METHODS:By specific siRNA transfection and MTT assay, we evaluated the effects of metastasis-associated gene 1 (MTA1) in osteoblast growth. To show ...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/s40001-015-0084-x

    authors: Liu T,Zou W,Shi G,Xu J,Zhang F,Xiao J,Wang Y

    更新日期:2015-02-03 00:00:00

  • Screening of osteoprotegerin-related feature genes in osteoporosis and functional analysis with DNA microarray.

    abstract:BACKGROUND:Osteoporosis affects 200 million people worldwide and places an enormous economic burden on society. We aim to identify the feature genes that are related to osteoprotegerin in osteoporosis and to perform function analysis with DNA microarray from human bone marrow. METHODS:We downloaded the gene expression...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783X-18-15

    authors: Wu X,Guo S,Shen G,Ma X,Tang C,Xie K,Liu J,Guo W,Yan Y,Luo E

    更新日期:2013-06-03 00:00:00

  • First case of bacteremia due to chromosome-encoded CfxA3-beta-lactamase-producing Capnocytophaga sputigena in a pediatric patient with acute erythroblastic leukemia.

    abstract::Bacteremia due to Capnocytophaga sputigena occurred in a 4-year and 9-month-old Japanese girl patient with acute erythroblastic leukemia in Shinshu University Hospital, Japan. On her admission to the hospital, she had a temperature of 38.2 degrees C with canker sore. Prior to the commencement of chemotherapy, peripher...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Matsumoto T,Matsubara M,Oana K,Kasuga E,Suzuki T,Hidaka E,Shigemura T,Yamauchi K,Honda T,Ota H,Kawakami Y

    更新日期:2008-03-31 00:00:00

  • Bisoprolol treatment for cyanotic spells--a 69-year-old female with uncorrected pentalogy of Fallot.

    abstract::Pentalogy of Fallot is a rare cyanotic congenital heart disease characterized by biventricular origin of the aorta above a large ventricular septal defect, obstruction of the pulmonary outflow, right ventricular hypertrophy (tetralogy of Fallot), and an atrial septal defect. Mortality due to syncope, arrhythmia or con...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Anders HJ,Fuchshuber S

    更新日期:2001-06-28 00:00:00

  • Echocardiographic findings in patients with acute coronary syndrome and normal angiogram.

    abstract::Coronary angiograms performed at the time of an acute coronary syndrome typically present vessel occlusions, ruptured plaques or thrombotic lesions that require reperfusion therapy. However, occasionally, no coronary artery stenoses are detected. Myocardial ischemia frequently causes left ventricular wall motion abnor...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Germing A,Ulrich S,Fadgyas T,Grewe P,Mügge A,Lindstaedt M

    更新日期:2008-08-18 00:00:00

  • Analysis of the Candida albicans - specific T-cell response and oropharyngeal Candida colonization in a cohort of HIV-1-infected patients.

    abstract::To investigate Candida epidemiology and immunologic correlates of protection in HIV-1 infected patients, we analyzed oral Candida colonization in correlation to the Candida-specific T-cell response measured by g-IFN ELISPOT using different Candida (C.) albicans strains. In 16/46 patients (13 asymptomatic, 3 with oral ...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Bäuerle M,Schröppel K,Taylor B,Bergmann S,Schmitt-Haendle M,Harrer T

    更新日期:2006-11-30 00:00:00

  • Prosthetic joint infection development of an evidence-based diagnostic algorithm.

    abstract:BACKGROUND:Increasing rates of prosthetic joint infection (PJI) have presented challenges for general practitioners, orthopedic surgeons and the health care system in the recent years. The diagnosis of PJI is complex; multiple diagnostic tools are used in the attempt to correctly diagnose PJI. Evidence-based algorithms...

    journal_title:European journal of medical research

    pub_type: 杂志文章,meta分析

    doi:10.1186/s40001-017-0245-1

    authors: Mühlhofer HM,Pohlig F,Kanz KG,Lenze U,Lenze F,Toepfer A,Kelch S,Harrasser N,von Eisenhart-Rothe R,Schauwecker J

    更新日期:2017-03-09 00:00:00

  • Gallbladder varices: a case report and review of the literature.

    abstract::We present an 18 year old woman suffering from cavernous transformation of the portal vein, hypersplenism and bleeding esophageal varices. Color flow Doppler sonography showed gallbladder wall varices. A review of the literature, revealed 76 cases of gallbladder varices. Mostly, these were associated with portal vein ...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Safadi R,Sviri S,Eid A,Levensart P

    更新日期:1996-09-20 00:00:00

  • Oral manifestations of triple A syndrome.

    abstract::Triple A (four A; Allgrove syndrome) syndrome is a an autosomal recessive disorder characterized by alacrimia, achalasia, adrenocortical insufficiency, and various neurological abnormalities. We report a case of triple A syndrome in a 14-year-old female patient together with oral manifestations. The importance of this...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Vucicevic-Boras V,Juras D,Gruden-Pokupec JS,Vidovic A

    更新日期:2003-07-31 00:00:00

  • Influence of resin-based restoration materials on cytotoxicity in gingival fibroblasts.

    abstract::Tooth-colored resin-based restoration materials have gained enormous significance in recent decades. Since the composites presently available still evidence various weaknesses, intensive research continues concerning them. In this study we tested the biocompatibility of six resin-based materials (Charisma, Solitaire, ...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Willershausen B,Schäfer D,Pistorius A,Schulze R,Mann W

    更新日期:1999-04-27 00:00:00

  • Churg-Strauss syndrome: a case report.

    abstract::A fifty-year-old female presented with a one month history of progressive dyspnea, productive cough, pain of elbows and knees, and 40°C fever despite antibiotic treatment. She has been diagnosed of bronchial asthma over 25 years before admission and oral and depot glucocorticosteroids as a long-term therapy was applie...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783x-15-s2-92

    authors: Mroz RM,Korniluk M,Swidzinska E,Chyczewska E

    更新日期:2010-11-04 00:00:00

  • Glucose and lipid metabolism in young lean normotensive males with the G protein beta3 825T-allele.

    abstract::The 825T-allele of the C825T polymorphism in GNB3, the gene for the G protein beta3 subunit, has been reported to be associated with essential hypertension and obesity. Expression of Gbeta3s, the gene product of GNB3 associated with the GNB3 825T-allele, causes increased signal transduction which may contribute to pat...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Saller B,Nemesszeghy P,Mann K,Siffert W,Rosskopf D

    更新日期:2003-03-27 00:00:00

  • Pharmacology and metabolism of anidulafungin, caspofungin and micafungin in the treatment of invasive candidosis: review of the literature.

    abstract::Echinocandins represent the newest class of antifungal agents. Currently, three echinocandins, anidulafungin, caspofungin and micafungin are licensed for clinical use in various indications. They act as inhibitors of β-(1,3)-glucan synthesis in the fungal cell wall and have a favorable pharmacological profile. They ha...

    journal_title:European journal of medical research

    pub_type: 杂志文章,评审

    doi:10.1186/2047-783x-16-4-159

    authors: Kofla G,Ruhnke M

    更新日期:2011-04-28 00:00:00

  • Soluble intercellular adhesion molecule 1 (sICAM-1) in bronchoalveolar lavage (BAL) cell cultures and in the circulation of patients with tuberculosis, hypersensitivity pneumonitis and sarcoidosis.

    abstract::Intercellular adhesion molecule-1 (ICAM-1) plays an important role in inflammatory diseases. It is believed that its soluble form (sICAM-1) might be a serum parameter of inflammatory activity with possible relevance in granulomatous disorders. To evaluate this role we measured sICAM-1 by ELISA in serum and shedding of...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Bäumer I,Zissel G,Schlaak M,Müller-Quernheim J

    更新日期:1998-06-17 00:00:00

  • Efficacy of 12 weeks supplementation of a botanical extract-based weight loss formula on body weight, body composition and blood chemistry in healthy, overweight subjects--a randomised double-blind placebo-controlled clinical trial.

    abstract:OBJECTIVE:The aim of this study was to evaluate the efficacy and safety of composite extracts in reducing weight, as the main outcome measure. Secondary measures of the study were body composition change. DESIGN:Randomised, double blind, placebo-controlled clinical trial. SETTING:Tertiary university clinic. SUBJECTS...

    journal_title:European journal of medical research

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Opala T,Rzymski P,Pischel I,Wilczak M,Wozniak J

    更新日期:2006-08-30 00:00:00

  • Maternal smoking promotes chronic obstructive lung disease in the offspring as adults.

    abstract:INTRODUCTION:In utero and/or childhood environmental tobacco smoke exposure is well known to adversely affect lung function and to depreciate child's health in many ways. Fewer studies have assessed the long-term effects on COPD development and disease severity in later adulthood. METHODS:COPD patients were interviewe...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783x-14-s4-27

    authors: Beyer D,Mitfessel H,Gillissen A

    更新日期:2009-12-07 00:00:00

  • The influence of restorative materials on marginal gingiva.

    abstract:BACKGROUND:A great variety of dental materials are now available for use in restorative treatments. Much attention has been devoted to physical and chemical properties, but the biological effects of these materials have been less frequently studied. AIM:The aim of this study is to test the influence of resin based res...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Willershausen B,Köttgen C,Ernst CP

    更新日期:2001-10-29 00:00:00

  • The significance of selected epidemiologico-clinical factors in the prevalence of the Helicobacter pylori infection in young males.

    abstract::A serological diagnosis (ELISA test) was carried out of infections by Helicobacter pylori in 1200 young males (recruits in the Polish Army) and the influence of selected epidemiologico-clinical factors (civil status, place of residence, profession, economical conditions, tobacco smoking, consumption of alcohol, diseas...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Kopański Z,Schlegel-Zawadzka M,Golec E,Witkowska B,Micherdziński J,Cienciala A,Kustra Z

    更新日期:1997-08-28 00:00:00

  • Caspofungin for treatment of invasive aspergillosis in Germany: results of a pre-planned subanalysis of an international registry.

    abstract:BACKGROUND:This study is a pre-planned country-specific subanalysis of results in Germany from a multinational multicenter registry to prospectively assess real-world experience with caspofungin administered for treatment of proven or probable invasive aspergillosis (IA). METHODS:Data from patients treated with caspof...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/2047-783X-17-7

    authors: Egerer G,Reichert D,Pletz MW,Kaskel P,Krobot KJ,Maertens J

    更新日期:2012-04-17 00:00:00

  • Antiretroviral therapy (ART) from a neurological point of view. German Neuro-AIDS study group (DNAA).

    abstract::Human Immunodeficiency virus can affect the peripheral (PNS) and central nervous system (CNS). In the ART / HAART era especially the CNS is said to be a virus reservoir so that neurologists have to be more and more integrated in therapy planning. Therefore the present paper describes neurological indications for ART, ...

    journal_title:European journal of medical research

    pub_type: 杂志文章,评审

    doi:

    authors: Enzensberger W,von Giesen HJ

    更新日期:1999-11-22 00:00:00

  • Bone marrow Th2 cytokine expression as predictor for relapse in childhood acute lymphoblastic leukemia (ALL).

    abstract::The immunological environment of leukemic blasts in the bone marrow might play a decisive role in determining an individual's risk for relapse. In order to identify potential predictors of relapse and to elucidate the mechanisms of immune control of leukemic blasts we examined the expression of cytokines, costimulator...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:

    authors: Stachel D,Albert M,Meilbeck R,Kreutzer B,Haas RJ,Schmid I

    更新日期:2006-03-27 00:00:00

  • Direct comparison of coronary bare metal vs. drug-eluting stents: same platform, different mechanics?

    abstract:BACKGROUND:Drug-eluting stents (DES) compared to bare metal stents (BMS) have shown superior clinical performance, but are considered less suitable in complex cases. Most studies do not distinguish between DES and BMS with respect to their mechanical performance. The objective was to obtain mechanical parameters for di...

    journal_title:European journal of medical research

    pub_type: 杂志文章

    doi:10.1186/s40001-017-0300-y

    authors: Schmidt W,Lanzer P,Behrens P,Brandt-Wunderlich C,Öner A,Ince H,Schmitz KP,Grabow N

    更新日期:2018-01-08 00:00:00