Search results for "Cromo"

showing 10 items of 1298 documents

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1999

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…

AdultMalemedicine.medical_specialtyMyofilamentAdolescentDNA Mutational AnalysisMolecular Sequence Datamacromolecular substancesBiologyMyopathies NemalineTPM203 medical and health sciences0302 clinical medicineNemaline myopathyMuscular DiseasesInternal medicineMyosinGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildMuscle SkeletalPolymorphism Single-Stranded ConformationalActin030304 developmental biologyFamily Health0303 health sciencesPolymorphism GeneticBase SequenceSequence Homology Amino AcidInfantSkeletal muscleDNASequence Analysis DNAmedicine.diseaseCongenital myopathyActins3. Good healthEndocrinologymedicine.anatomical_structureAmino Acid SubstitutionChild PreschoolMutationFemaleMYH7030217 neurology & neurosurgery
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Mid-Term Effectiveness of Behavioral and Psychodynamic Inpatient Treatments of Severe Obesity Based on a Randomized Study

2006

<i>Background:</i> The objective of this study was to compare the effectiveness of psychodynamic and behavioral inpatient treatments of severely obese patients regarding weight and distress. <i>Methods:</i> In a longitudinal study obese patients (body mass index, BMI ≧35) were randomly assigned to behavioral or to psychodynamic inpatient treatment. Mostly female (n = 267; 85%) obese patients with psychiatric and somatic comorbidity (age 20–64 years, BMI 35–74) were examined with standardized self-report scales on distress (SCL-90R), interpersonal problems (Inventory of Interpersonal Problems), eating behavior (Fragebogen zum Essverhalten) and body image (Fragebogen z…

AdultMalemedicine.medical_specialtymacromolecular substancesBody weightSeverity of Illness IndexBody Mass Indexlaw.inventionPsychiatric comorbidityRandomized controlled trialBehavior TherapylawSurveys and QuestionnairesmedicineHumansInterpersonal RelationsObesityBulimia NervosaPsychiatryApplied PsychologyApplication methodsbusiness.industryFollow up studiesGeneral MedicineMiddle AgedSevere obesityPsychodynamicsmedicine.diseaseObesityHospitalizationPsychotherapyPsychiatry and Mental healthClinical PsychologyFemalebusinessFollow-Up StudiesPsychotherapy and Psychosomatics
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Economic evaluation of prolonged and enhanced ECG Holter monitoring in acute ischemic stroke patients

2019

Objective: Atrial fibrillation (AF) is a major cause for recurrent stroke, has severe impact on a patient's health and imposes a high economic burden for society. Current guidelines recommend 24 h ECG monitoring (standard-of-care, SoC) to detect AF after stroke to reduce the risk of future events. However, paroxysmal AF (PAF) is difficult to detect within this period as it occurs infrequently and unpredictably. In a randomized controlled trial (Find-AF(RANDOMISED)), prolonged and enhanced Holter ECG monitoring (EPM) revealed a significantly higher detection rate of AF compared to SoC, although its cost-effectiveness has not yet been investigated. Methods: Based on the data of FIND-AF(RANDOM…

AdultMalemedicine.medical_specialtymacromolecular substancesCOST-EFFECTIVENESS ANALYSIS030204 cardiovascular system & hematologyGUIDELINESTHERAPYBrain Ischemia03 medical and health sciences0302 clinical medicineRecurrent strokeInternal medicinemedicineMANAGEMENTHumanscardiovascular diseases030212 general & internal medicinequality-adjusted life yearsAcute ischemic strokeStrokeAgedAged 80 and overbusiness.industrycost-benefit analysisAtrial fibrillationGeneral MedicineCost-effectiveness analysisMiddle AgedWirtschaftswissenschaftenmedicine.diseaseAtrial fibrillationstroke3. Good healthQuality-adjusted life yearTRIALSEconomic evaluationATRIAL-FIBRILLATIONCardiologyElectrocardiography AmbulatoryQuality of LifeFemalebusinessHolter monitoringsecondary preventionTASK-FORCE
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Mechanical Properties of Human Patellar Tendon at the Hierarchical levels of Tendon and Fibril

2012

Tendons are strong hierarchical structures, but how tensile forces are transmitted between different levels remains incompletely understood. Collagen fibrils are thought to be primary determinants of whole tendon properties, and therefore we hypothesized that the whole human patellar tendon and its distinct collagen fibrils would display similar mechanical properties. Human patellar tendons ( n = 5) were mechanically tested in vivo by ultrasonography. Biopsies were obtained from each tendon, and individual collagen fibrils were dissected and tested mechanically by atomic force microscopy. The Young's modulus was 2.0 ± 0.5 GPa, and the toe region reached 3.3 ± 1.9% strain in whole patellar …

AdultMalemusculoskeletal diseasesMaterials sciencePhysiologymacromolecular substancesFibrilMicroscopy Atomic ForceCollagen fibrilPatellar LigamentPhysiology (medical)Elastic ModulusUltimate tensile strengthMicroscopymedicineHumansAtomic force microscopyta1182ta3141Anatomymusculoskeletal systemPatellar tendonTendonBiomechanical Phenomenamedicine.anatomical_structureCollagenStress Mechanical
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Desmin-related myopathies

1997

Desmin-related myopathies are marked by accumulation of desmin, which is often familial and associated with cardiomyopathy. When multifocal this excess is characterized by inclusions such as cytoplasmic or spheroid bodies, when disseminated the excess is called granulofilamentous material. Excess of desmin might represent an abnormal type of protein metabolism.

AdultPathologymedicine.medical_specialtyGranulofilamentous materialCardiomyopathyChromosome DisordersGenes Recessivemacromolecular substancesBiologyDesminMuscular DiseasesmedicineHumansChildMuscle SkeletalGenotype-Phenotype CorrelationsGenes DominantChromosome AberrationsInclusion BodiesDESMIN-RELATED MYOPATHYMyocardiumMolecular pathogenesismusculoskeletal systemmedicine.diseaseActin CytoskeletonNeurologyCytoplasmDesminNeurology (clinical)CardiomyopathiesCurrent Opinion in Neurology
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Severe versus Local Odontogenic Bacterial Infections: Comparison of Microbial Isolates

2007

<i>Aim:</i> It was the aim of this study to evaluate the clinical and microbiological differences between severe and local odontogenic abscesses. <i>Methods:</i> Thirty patients were prospectively enrolled. Sixteen of 30 patients suffered from a severe life-threatening abscess of the head and neck, whereas 14/30 patients presented with a localized submucous abscess. Anaerobic bacteria were identified and susceptibility testing was performed using E test strips for penicillin, amoxicillin + clavulanic acid, imipenem + cilastatin, clindamycin and metronidazole. <i>Results:</i> The mean duration until removal of all drains was 14.1 and 3.5 days, respectively…

AdultPathologymedicine.medical_specialtyPenicillin ResistancePrevotellaMicrobial Sensitivity Testsmacromolecular substancesDrug resistanceBiologySeverity of Illness IndexAntibiotic resistanceDrug Resistance Multiple BacterialInternal medicinePeriodontal AbscessSeverity of illnessmedicineHumansProspective StudiesAbscessProspective cohort studyOdontogenic infectionFocal Infection DentalPeptostreptococcusPropionibacteriumBacterial InfectionsMiddle Agedmedicine.diseaseFocal infection theoryFocal InfectionAnti-Bacterial AgentsOdontogenicSurgeryEuropean Surgical Research
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Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

2010

We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.

AdultSarcomeresmacromolecular substancesBiologymedicine.disease_causeSarcomereNemaline myopathyPregnancymedicineHumansMyopathyMuscle SkeletalGenetics (clinical)ActinMutationMuscle biopsymedicine.diagnostic_testMicrofilament ProteinsInfant NewbornSkeletal muscleDNANeuromuscular DiseasesActin cytoskeletonmedicine.diseaseMolecular biologyActin CytoskeletonFetal Diseasesmedicine.anatomical_structureNeurologyBiochemistryPediatrics Perinatology and Child HealthMutationFemaleNeurology (clinical)medicine.symptomNeuromuscular disorders : NMD
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Clinical Profiles of Premenstrual Experiences Among Women Having Premenstrual Syndrome (PMS): Affective Changes Predominate and Relate to Social and …

2014

Our objective for this study was to examine symptom severity among women suffering from premenstrual syndrome as well as associations between symptom severity and impairment. In a one-cycle prospective study, various premenstrual symptoms of 91 women were assessed. Tension and irritability were the most severe symptoms. Headache, irritability, self-deprecating thoughts, and depressed mood were the symptoms that were subjectively rated as the most burdensome. Significant correlations were found between the mean premenstrual severity and functional impairment. The severity of premenstrual affective symptoms was related to social impairment. The severity of psychological symptoms was correlate…

Adultmedicine.medical_specialtyActivities of daily livingmedia_common.quotation_subjectmacromolecular substancesPremenstrual syndrome (PMS)IrritabilitySeverity of Illness IndexPremenstrual SyndromeQuality of lifeSeverity of illnessActivities of Daily LivingmedicineHumansProspective StudiesProspective cohort studyPsychiatryMenstrual cycleMenstrual Cyclemedia_commonRetrospective StudiesDepressionMood Disordersmusculoskeletal neural and ocular physiologyRetrospective cohort studymedicine.diseasenervous systemSocioeconomic FactorsGeneral Health ProfessionsQuality of LifeFemalemedicine.symptomPsychologyStress PsychologicalClinical psychologyHealth care for women international
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Non-helpful relationships with professionals – a literature review of the perspective of persons with severe mental illness*

2015

The relationship with professionals has proved to be important with regard to outcome for persons with severe mental illness (SMI). The understanding of non-helpful relationships is important complementary knowledge to that regarding helpful relationships.To review the available qualitative research providing knowledge of non-helpful relationships from the perspective of persons with SMI.A review of qualitative studies, based on an earlier systematic search, analyzed through thematic analysis.The main themes were "non-helpful professionals", "organization versus relation" and "the consequences of non-helpful relationships with professionals". Examples of professionals described as non-helpf…

Adultmedicine.medical_specialtyAdolescentAttitude of Health Personneleducationmacromolecular substancesOutcome (game theory)Young Adult03 medical and health sciences0302 clinical medicinemental disordersmedicineHumans030212 general & internal medicineYoung adultPatient participationPsychiatryQualitative ResearchAgedAged 80 and overMental DisordersfungiPerspective (graphical)Professional-Patient RelationsGeneral MedicineMiddle Agedbiochemical phenomena metabolism and nutritionMental illnessmedicine.diseaseDissent and Disputes030227 psychiatryPsychiatry and Mental healthAlliancePatient ParticipationPsychologyQualitative researchClinical psychologyJournal of Mental Health
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Comparison of the rates of joint arthroplasty in patients with severe factor VIII and IX deficiency: an index of different clinical severity of the 2…

2009

AbstractData from the Italian Hemophilia Centres were collected to perform a retrospective survey of joint arthroplasty in patients with severe hemophilia. Twenty-nine of 49 hemophilia centers reported that 328 of the 347 operations were carried out in 253 patients with severe hemophilia A (HA) and 19 in 15 patients with severe hemophilia B (HB). When results were normalized to the whole Italian hemophilia population (1770 severe HA and 319 severe HB), patients with HA had a 3-fold higher risk of undergoing joint arthroplasty (odds ratio [OR], 3.38; 95% confidence interval [CI], 1.97-5.77; P < .001). These results were confirmed after adjustment for age, HIV, hepatitis C virus (HCV), and…

Adultmedicine.medical_specialtyAdolescentmedicine.medical_treatmentImmunologyPopulationmacromolecular substancesGene mutationHemophilia AHemophilia BSeverity of Illness IndexBiochemistryArthroplastySettore MED/15 - Malattie Del SangueCohort StudiesYoung AdultRisk Factorshemic and lymphatic diseasesInternal medicineSeverity of illnessmedicineCoagulopathyHumansChildeducationRetrospective Studieseducation.field_of_studyHematologyhamophilia arthroplastybusiness.industryRetrospective cohort studyCell BiologyHematologyOdds ratioBlood Coagulation DisordersMiddle Agedmedicine.diseaseArthroplastySurgeryItalyJoint DiseasesbusinessAlgorithms
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