Search results for "Musculoskeletal"

showing 10 items of 1714 documents

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

1995

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyDuchenne muscular dystrophyMolecular Sequence DataGene mutationPolymerase Chain ReactionMuscular DystrophiesGenomic ImprintingPrenatal DiagnosisInternal medicinemedicineHumansFamily historyCreatine KinaseGenetics (clinical)X-linked recessive inheritanceDNA PrimersGenes DominantMuscle biopsyBase Sequencebiologymedicine.diagnostic_testGenetic Carrier ScreeningInfantExonsmedicine.diseasePedigreeEndocrinologyMutationFailure to thrivebiology.proteinFemaleCreatine kinasemedicine.symptomDystrophinMetabolism Inborn ErrorsAmerican Journal of Medical Genetics
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Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

2014

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, an…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAplasia cutis congenitaHypopigmented skin lesionsEctodermal DysplasiaOculoectodermal syndromeGeneticsmedicineHumansCystGenetics (clinical)Dermoid CystSkinHyperkeratotic papuleHypopigmentationSystematized epidermal nevusbusiness.industryEpibulbar dermoidsBrainmedicine.diseaseMagnetic Resonance ImagingDermatologyEnlarged cisterna magnaPhenotypeChild Preschoolmedicine.symptombusinessAmerican Journal of Medical Genetics Part A
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Pigmented villonodular synovitis of the shoulder: review and case report

1999

Pigmented villonodular synovitis (PVNS) as reviewed in detail elsewhere most frequently involves the knee and finger synovial structures; shoulder involvement is rare: A search through the English literature yielded 18 publications describing 25 cases of PVNS affecting the shoulder joint. Analyzing these reports we found the clinical and radiological findings generally to be nonspecific, often mimicking a malignancy, as in the case presented here of a 16-year-old boy with painful swelling in the area of the left proximal humerus. Magnetic resonance imaging showed a suspected malignant soft tissue mass involving the shoulder capsule and measuring 7.5 x 6 x 4 cm. Preoperatively the patient co…

Malemusculoskeletal diseasesmedicine.medical_specialtyAdolescentSoft Tissue NeoplasmsSynovitis Pigmented VillonodularMalignancyDiagnosis DifferentialSynovitismedicineHumansOrthopedics and Sports MedicineShoulder Jointbusiness.industrymedicine.diseaseMagnetic Resonance ImagingTendonSurgerymedicine.anatomical_structurePigmented villonodular synovitisOrthopedic surgerySurgeryShoulder jointRadiologyPresentation (obstetrics)Differential diagnosisbusinessKnee Surgery, Sports Traumatology, Arthroscopy
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Different Surgical Approaches to Treat Chronic Tophaceous Gout in the Hand: Our Experience

2010

Chronic tophaceous gout is a disabling erosive arthritis characterized by an elevated serum urate concentration, recurrent attacks of arthritis, and deposits of monosodium urate crystals in synovial fluids. Tophi, ulcerations of the overlying skin, and fissures of the interarticular cartilage may occur in advanced stages, combined with deformities of the joints and decreased active joint flexion and extension. Although the timely use of allopurinol is associated with a decrease in the frequency of deposits of the tophaceous substance, however, surgical management is necessary to restore and improve the cosmesis and joint function, to alleviate symptomatic discomfort, and to reduce the risk …

Malemusculoskeletal diseasesmedicine.medical_specialtyAllopurinolArthritismedicineHumansOrthopedics and Sports MedicineSurgical approachArthritis Goutybusiness.industryCartilageAdvanced stageCosmesisPlastic Surgery ProceduresHandmedicine.diseaseSurgerymedicine.anatomical_structureChronic tophaceous goutChronic DiseaseJoint flexionFemaleSurgerybusinessmedicine.drugTechniques in Hand & Upper Extremity Surgery
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Knee Control and Jump-Landing Technique in Young Basketball and Floorball Players

2015

Poor knee alignment is associated with increased loading of the joints, ligaments and tendons, and may increase the risk of injury. The study purpose was to compare differences in knee kinematics between basketball and floorball players during a vertical drop jump (VDJ) task. We wanted to investigate whether basketball players, whose sport includes frequent jump-landings, exhibited better knee control compared with floorball players, whose sport involves less jumping. Complete data was obtained from 173 basketball and 141 floorball players. Peak knee valgus and flexion angles during the VDJ were analyzed by 3D motion analysis.Larger knee valgus angles were observed among basketball players …

Malemusculoskeletal diseasesmedicine.medical_specialtyBasketballAdolescentKnee JointPhysical Therapy Sports Therapy and RehabilitationKnee kinematicsBasketballKnee InjuriesKnee Jointmedicine.disease_causeYoung AdultJumpingmedicineHumansOrthopedics and Sports Medicineknee kinematicsadolescentsRange of Motion ArticularChildbiologyAthletesinjury riskmusculoskeletal systemmedicine.diseasebiology.organism_classificationACL injuryBiomechanical PhenomenaValgusAthletesPhysical therapyFemaleteam sportsRange of motionPsychologyhuman activitiesSportsknee alignment
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Recovery of Damaged Skeletal Muscle in mdx Mice through Low-intensity Endurance Exercise

2013

The lack of dystrophin in mdx mice leads to cycles of muscle degeneration and regeneration processes. Various strategies have been proposed in order to reduce the muscle-wasting component of muscular dystrophy, including implementation of an exercise programme. The aim of this study was to examine how low-intensity endurance exercise affects the degeneration-regeneration process in dystrophic muscle of male mdx mice. Mice were subjected to low-intensity endurance exercise by running on a motorized Rota-Rod for 5 days/week for 6 weeks. Histomorphological analysis showed a signifi cant reduction of measured inflammatory-necrotic areas in both gastrocnemius and quadriceps muscle of exercised m…

Malemusculoskeletal diseasesmedicine.medical_specialtyBlotting WesternConnexinPhysical Therapy Sports Therapy and RehabilitationDegeneration (medical)Settore BIO/09 - FisiologiaConnexinsMiceRandom Allocationdystrophic muscle muscle regeneration muscle injury connexin connexin 39 muscle strengthEndurance trainingPhysical Conditioning AnimalInternal medicinemedicineAnimalsRegenerationOrthopedics and Sports MedicineMuscle StrengthMuscular dystrophyMuscle SkeletalbiologyMuscle fatiguebusiness.industrySkeletal muscleAnatomyMuscular Dystrophy Animalmedicine.diseaseExercise TherapyMice Inbred C57BLmedicine.anatomical_structureEndocrinologyMuscle FatigueMice Inbred mdxPhysical Endurancebiology.proteinmedicine.symptomDystrophinbusinessBiomarkersMuscle ContractionMuscle contraction
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Number and Locations of Screw Fixation for Volar Fixed-Angle Plating of Distal Radius Fractures: Biomechanical Study

2010

Purpose To compare the biomechanical properties of different numbers and locations of screws in a multidirectional volar fixed-angle plate in a distal radius osteotomy cadaver model. Methods We created an extra-articular fracture in 16 pairs of fresh-frozen human cadaver radiuses. The 32 specimens were randomized into 4 groups. All fractures were fixated with a multidirectional volar fixed-angle plate. We tested 4 different screw-placement options in the distal fragment. The distal fragment was fixed with 4 locking screws in the distal row of the plate in group a, and with 4 locking screws alternately in the distal and proximal rows in group b. In group c, 3 locking screws were used in the …

Malemusculoskeletal diseasesmedicine.medical_specialtyBone ScrewsBendingFracture Fixation InternalFracture fixationBone platemedicineHumansOrthopedics and Sports MedicineAgedFixation (histology)Aged 80 and overOrthodonticsbusiness.industryBiomechanicsStiffnessRadiusMiddle Agedequipment and suppliesmusculoskeletal systemBiomechanical PhenomenaSurgeryEquipment Failure Analysissurgical procedures operativeOrthopedic surgeryFemaleSurgerymedicine.symptomRadius FracturesbusinessBone PlatesThe Journal of Hand Surgery
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Differential prognostic impact of type 2 diabetes mellitus in women and men with heart failure with preserved ejection fraction

2020

Introduction and objectives Type 2 diabetes mellitus (DM2) is a common comorbidity in patients with heart failure (HF) with preserved ejection fraction (HFpEF). Previous studies have shown that diabetic women are at higher risk of developing HF than men. However, the long-term prognosis of diabetic HFpEF patients by sex has not been extensively explored. In this study, we aimed to evaluate the differential impact of DM2 on all-cause mortality in men vs women with HFpEF after admission for acute HF. Methods We prospectively included 1019 consecutive HFpEF patients discharged after admission for acute HF in a single tertiary referral hospital. Multivariate Cox regression analysis was used to …

Malemusculoskeletal diseasesmedicine.medical_specialtyComorbidity030204 cardiovascular system & hematologydiiferencias entre sexos03 medical and health sciencesDiabetes mellitus0302 clinical medicineInterquartile rangeInternal medicineSex differencesRisk of mortalitymedicineHumansWomenMortalityAgedAged 80 and overHeart FailureEjection fractionProportional hazards modelbusiness.industryHazard ratioDiferencias entre sexosStroke VolumeMujeresGeneral MedicinePrognosisInsuficiencia cardiaca con fracción de eyección preservadamedicine.diseaseComorbidityHeart failure with preserved ejection fractionDiabetes Mellitus Type 2MortalidadCohortFemalebusinessHeart failure with preserved ejection fractionRevista Española de Cardiología (English Edition)
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Preventing bone loss during androgen deprivation therapy for prostate cancer: Early experience with neridronate

2005

Abstract Objective: Androgen-deprivation therapy (ADT) is the usual treatment for locally advanced or metastatic prostate cancer. Osteoporosis is a common complication of ADT. The aim of our study was to evaluate the efficacy of neridronate, a relatively new bisphosphonate to prevent bone loss during androgen ablation. Methods: Sixty patients with prostate cancer and osteoporosis were enrolled and randomly assigned to 2 different treatment regimes: group A (30 patients) treated with maximum androgenic blockage (MAB), and group B (30 patients) treated with bicalutamide 150mg. Each group was divided in 2 subgroups A1–A2 and B1–B2. All patients received calcium and cholecalciferol supplements …

Malemusculoskeletal diseasesmedicine.medical_specialtyDeoxypyridinolineBone densityBicalutamideUrologymedicine.medical_treatmentOsteoporosisUrologyImmunoenzyme TechniquesTosyl CompoundsAndrogen deprivation therapyProstate cancerchemistry.chemical_compoundAbsorptiometry PhotonBone DensityNitrilesmedicineHumansNeridronic acidAnilidesTestosteroneAmino AcidsVitamin DChromatography High Pressure LiquidAgedAged 80 and overDiphosphonatesEstradiolbusiness.industryProstatic NeoplasmsAndrogen AntagonistsPhosphorusBisphosphonatemedicine.diseaseSurgeryTreatment OutcomechemistryParathyroid HormoneOsteoporosisCalciumDrug Therapy CombinationbusinessBiomarkersFollow-Up Studiesmedicine.drug
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Calcaneal Bone Mineral Density Predicts Fracture Occurrence: A Five-Year Follow-up Study in Elderly People

1997

A 5-year follow-up study investigated calcaneal bone mineral density (BMD) and changes in BMD in relation to fracture occurrence. The subjects comprised two cohorts born in 1914 and 1910 living in the city of Jyväskylä in central Finland. One hundred and three men (82%) and 188 women (73%), aged 75, and 57 men (74%) and 136 women (65%), aged 80, of the eligible population participated in the baseline bone measurements. The follow-up bone measurements were obtained for 59 men (68%) and 119 women (66%), aged 80 years, and for 21 men (53%) and 61 women (48%), aged 85 years. During the follow-up period, 8 men and 36 women from the younger and 11 men and 24 women from the older cohort sustained …

Malemusculoskeletal diseasesmedicine.medical_specialtyEndocrinology Diabetes and MetabolismPopulationBone MeasurementsCohort StudiesFractures BoneBone DensityRisk FactorsmedicineHumansElderly peopleOrthopedics and Sports MedicineeducationFinlandAgedProbabilityProportional Hazards ModelsAged 80 and overBone mineraleducation.field_of_studybusiness.industryFive year follow upSurgeryCalcaneusCohortFemaleCalcaneusbusinessFollow-Up StudiesDemographyBone massJournal of Bone and Mineral Research
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