Search results for "NGS"

showing 10 items of 6306 documents

A review of settings-based health promotion with applications to sports clubs.

2013

Sports clubs have a long and tradit ional history in many countries, ye t they remain underdeveloped and underutilized settings for health promotion. Leisure ti me settings, in general, have been in minor role among settings-based health promotion initiatives. Curre nt health concerns in western countries, such as sedentary lifestyles and obesity, have aroused a need to expand he alth promotion to include also settings with greater potential to reach and engage children and adoles cents in more vigorous activity. To develop these alternative, most often non-institutiona l, settings to the level of the established ones, it is important to review what has been done, what ha s been accepted, a…

medicine.medical_specialtyHealth (social science)health-promoting sports clubAdolescentecological modelsreviewPoison controlHealth PromotionSuicide preventionOccupational safety and healthInjury preventionMedicineHumansChildsettings approachScope (project management)business.industryPublic Health Environmental and Occupational HealthHuman factors and ergonomicsPublic relationsHealth promotionPhysical therapyClubPublic Facilitiesbusinesshuman activitiesSportsHealth promotion international
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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

2019

Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…

medicine.medical_specialtyHeart malformation[SDV]Life Sciences [q-bio]Dwarfism03 medical and health sciencesLoss of Function MutationIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansChildGenetics (clinical)Exome sequencingLoss function030304 developmental biology0303 health sciencesbusiness.industrySiblings030305 genetics & heredityGeneral MedicineSyndromemedicine.diseaseDermatologyPhenotype[SDV] Life Sciences [q-bio]PhenotypeRibonucleoproteinsEtiologyMicrocephalyFemalePrimordial dwarfismbusinessMild microcephalyEuropean journal of medical genetics
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Subcutaneous rupture of hepatic hydatid cyst: CT findings.

2006

medicine.medical_specialtyHepatologybusiness.industryGastroenterologyMedicineHydatid cystCt findingsRadiologybusiness
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Patterns and Predictors of Recovery from Poor Health Status Measured with the Chronic Obstructive Pulmonary Disease (COPD) Assessment Test in Patient…

2019

Recent recommendations for chronic obstructive pulmonary disease (COPD) suggest that evaluation and management should focus on patient health status. Despite the frequency of poor health status and its negative impact on patients with COPD, little is known about how poor or non-poor health status persists and/or remits over time or what factors might predict recovery from a poor health status. The aim was to determine the likelihood of transitioning between poor and non-poor health status in patients with stable COPD followed for 2 years and to investigate factors that might predict recovery from poor health status. We prospectively included 137 patients with stable COPD (mean age, 66.9 yea…

medicine.medical_specialtyLongitudinal studyPulmonary diseaselcsh:Medicinehealth statusnon-smokerArticle03 medical and health sciencesrecovery0302 clinical medicineInternal medicinemedicineCOPDIn patient030212 general & internal medicineGeneralized estimating equationLungs -- DiseasesCOPDhandgrip strengthbusiness.industrylcsh:RPulmons -- MalaltiesCATGeneral MedicineOdds ratiomedicine.diseaseConfidence interval030228 respiratory systemCopd assessment testbusinesstransitionsJournal of Clinical Medicine
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Remeex® System Effectiveness in Male Patients with Stress Urinary Incontinence

2021

Background: When conservative management fails, patients with stress urinary incontinence (SUI) are considered for surgical treatment. Simpler, more economical and less invasive surgical techniques, such as the Remeex® system, have been developed. Objectives: To analyze the objective effectiveness of the Remeex® system in the treatment of male stress urinary incontinence. To study survival and complication rates of the Remeex® system in male SUI patients. Materials and methods: Prospective observational study between July 2015 and May 2020. Group A (n = 7

medicine.medical_specialtyMultivariate analysisslings030232 urology & nephrologyeffectivenessUrinary incontinenceArticleGroup B03 medical and health sciences0302 clinical medicineMedicinemale stress urinary incontinenceRemeex® systembusiness.industryRGeneral MedicineSurgeryExact test030220 oncology & carcinogenesisMedicineObservational studyAnalysis of varianceImplantRemeex<sup>®</sup> systemmedicine.symptombusinessComplicationJournal of Clinical Medicine
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Echocardiographic assessment of coronary microvascular dysfunction: Basic concepts, technical aspects, and clinical settings

2021

Abstract Coronary flow reserve is the capacity of the coronary circulation to augment the blood flow in response an increase in myocardial metabolic demands and has a powerful prognostic significance in different clinical situations. It might assess with invasive and noninvasive technique. Transthoracic echocardiography Doppler is an emerging diagnostic technique, noninvasive, highly feasible, safe for patient and physician, without radiation, and able to detect macrovascular and microvascular anomalies in the coronary circulation. This review aims to describe the benefit and limits of echocardiographic assessment of coronary flow reserve.

medicine.medical_specialtyMyocardial ischemiacoronary flow reservecoronary physiologyMyocardial IschemiaReviewsClinical settingsReview030204 cardiovascular system & hematologyDoppler echocardiographycoronary flow reserve; coronary microvascular dysfunction; coronary physiology; Doppler echocardiography; microcirculation; Blood Flow Velocity; Coronary Circulation; Echocardiography; Echocardiography Doppler; Humans; Microcirculation; Coronary Vessels; Myocardial IschemiaMicrocirculation03 medical and health sciencesCoronary circulation0302 clinical medicineCoronary CirculationInternal medicineHumansMedicineRadiology Nuclear Medicine and imaging030212 general & internal medicineCoronary Vesselcoronary microvascular dysfunctionmedicine.diagnostic_testbusiness.industryMicrocirculationDopplerCoronary flow reserveBlood flowCoronary VesselsDoppler echocardiographyEchocardiography Dopplermedicine.anatomical_structureEchocardiographyCardiologyCardiology and Cardiovascular MedicinebusinessCoronary physiologyBlood Flow VelocityHumanEchocardiography
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Returns to Childbirth Technologies: Evidence from Preterm Births

2013

We investigate the impact of obstetrician supervision, as opposed to midwife supervision, on the short-term health of low-risk newborns. We exploit a unique policy rule in the Netherlands that creates a large discontinuity in the probability of a low-risk birth being attended by an obstetrician at gestational week 37. Using a fuzzy regression discontinuity design, we consistently find no health benefits from obstetrician supervision, despite increased rates of neonatal intensive care unit admissions among births supervised by obstetricians. These results indicate potential cost savings from increased use of midwifery care for low-risk deliveries.

medicine.medical_specialtyNeonatal intensive care unitbusiness.industryHealth technologyPreterm BirthsHealth benefitsCost savingsFuzzy regressionObstetrics and gynaecologyNursingFamily medicinemedicineChildbirthbusinesshealth care economics and organizationsSSRN Electronic Journal
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Spinal metastases: Is stereotactic body radiation therapy supported by evidences?

2016

Stereotactic body radiotherapy (SBRT) is becoming widely adopted in the treatment of primary and secondary tumors. Spinal bone metastases are frequently discovered in cancer patients, and in the past have been usually treated with a palliative goal. Nevertheless, in some particular clinical settings, such as oligometastatic patients and/or those with a long life expectancy, spinal SBRT could be considered a valid therapeutic option to obtain long-lasting palliation and, when possible, with a curative goal. This review aims to summarize available clinical and dosimetric data of published studies about spinal SBRT.

medicine.medical_specialtyPalliative careStereotactic body radiation therapymedicine.medical_treatment2720 HematologyBone Neoplasms610 Medicine & healthClinical settingsRadiosurgeryRadiosurgery030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicineDosimetryFractures CompressionPalliative radiotherapymedicineHumansSBRTSpinal NeoplasmsToxicitySpine metastasesbusiness.industryPalliative CareCompressionCancerRadiotherapy DosageHematologymedicine.disease10044 Clinic for Radiation OncologySurgeryTreatment OutcomeOncologyLocal controlDosimetry; Local control; Palliative radiotherapy; SBRT; Spine metastases; Toxicity; Bone Neoplasms; Evidence-Based Practice; Fractures Compression; Humans; Palliative Care; Radiotherapy Dosage; Spinal Fractures; Spinal Neoplasms; Treatment Outcome; Radiosurgery; Hematology; Oncology; Geriatrics and GerontologyEvidence-Based Practice030220 oncology & carcinogenesisSpinal Fractures2730 OncologySecondary tumorsGeriatrics and GerontologySpinal metastasesbusinessFracturesStereotactic body radiotherapyCritical Reviews in Oncology/Hematology
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Factores de predicción de dosificación inadecuada de rivaroxabán utilizando la ecuación de CKD-EPI

2021

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medicine.medical_specialtyPatientsCKD-EPI:Diseases::Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Coagulation Disorders [Medical Subject Headings]Dosislcsh:RC870-923:Anatomy::Cardiovascular System::Blood Vessels::Arteries::Aorta [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]DosageRivaroxabanRivaroxabánmedicineRenal insufficiency chronicInsuficiencia renal crónicaGynecology:Diseases::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Insufficiency::Renal Insufficiency Chronic [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Clinical Trials as Topic::Observational Study as Topic [Medical Subject Headings]business.industry:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Drug Dosage Calculations [Medical Subject Headings]lcsh:Diseases of the genitourinary system. Urology:Persons::Persons::Patients [Medical Subject Headings]NephrologyPacientesDosificaciónbusiness:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Drug Prescriptions [Medical Subject Headings]Nefrología
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Incidence Patterns and Trends of non-Central Nervous System Solid Tumours in Children and Adolescents. A Collaborative Study of the Spanish Populatio…

2016

Journal Article; OBJECTIVE To describe incidence patterns and trends in children (0-14 years) and adolescents (15-19 age-range) with solid tumours, except those of central nervous system (CNS), in Spain. METHODS Cases were drawn from eleven Spanish population-based cancer registries. Incidence was estimated for the period 1983-2007 and trends were evaluated using Joinpoint regression analysis. RESULTS The studied tumour groups accounted for 36% of total childhood cancers and 47.6% of those diagnosed in adolescence with annual rates per million of 53.5 and 89.3 respectively. In children 0 to 14 years of age, Neuroblastoma (NB) was the commonest (7.8%) followed by Soft-tissue sarcomas (STS) (…

medicine.medical_specialtyPediatricsJoinpoint regression:Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms Neuroepithelial::Neuroectodermal Tumors Primitive::Neuroectodermal Tumors Primitive Peripheral::Neuroblastoma [Medical Subject Headings]Central nervous systemEspaña03 medical and health sciences0302 clinical medicine030225 pediatricsInternal medicineNeuroblastoma:Health Care::Population Characteristics::Demography::Vital Statistics::Morbidity::Incidence [Medical Subject Headings]medicineCarcinoma:Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms Glandular and Epithelial::Carcinoma [Medical Subject Headings]canceradolescentsAdolescente:Named Groups::Persons::Age Groups::Child [Medical Subject Headings]childhood:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]business.industryIncidence (epidemiology)Cancermedicine.diseaseNeoplasiasSpanish populationmedicine.anatomical_structureOncologyEl Niñopopulation-based studySpain030220 oncology & carcinogenesisNiño:Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings]solid tumourincidence:Diseases::Neoplasms::Neoplasms by Site::Bone Neoplasms [Medical Subject Headings]businessIncidenciaResearch PaperSpain.
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