Search results for "Lope"

showing 10 items of 2014 documents

Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Association of simvastatin and hyperlipidemia with periodontal status and bone metabolism markers.

2014

Background: The objective of this study is to determine whether simvastatin consumption and hyperlipidemia are associated with a worse periodontal condition and specific bone activity biomarkers. Methods: This cross-sectional and analytic study includes 73 patients divided into three groups: 1) simvastatin-treated patients with hyperlipidemia (n = 29); 2) patients with hyperlipidemia treated by diet alone (n = 28); and 3) normolipidemic patients (controls, n = 16). The periodontal clinical variables of all participants were gathered, a blood sample was drawn from each to determine the lipid profile (total cholesterol, triglycerides, low-density lipoprotein, and high-density lipoprotein), se…

AdultMalemedicine.medical_specialtySimvastatinAlcohol DrinkingOsteocalcinHyperlipidemiasBlood SedimentationCollagen Type IBone remodelingN-terminal telopeptideInternal medicineHyperlipidemiaPeriodontal Attachment LossmedicineHumansTriglyceridesAgedHypolipidemic AgentsPeriodontitismedicine.diagnostic_testbusiness.industryCholesterol HDLSmokingOsteoprotegerinnutritional and metabolic diseasesCholesterol LDLMiddle Agedmedicine.diseasePeptide FragmentsEndocrinologyC-Reactive ProteinCholesterolCross-Sectional StudiesClinical attachment lossSimvastatinErythrocyte sedimentation ratePeriodonticsFemaleHydroxymethylglutaryl-CoA Reductase InhibitorsPeriodontal IndexbusinessLipid profilePeptidesBiomarkersProcollagenmedicine.drugJournal of periodontology
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Lack of association of the -463 G/A myeloperoxidase promoter polymorphism with Behcet's disease in Italian patients.

2007

Objective. To investigate potential associations between the � 463G/A myeloperoxidase (MPO) promoter polymorphism and susceptibility to, and clinical expression of, Behcet's disease (BD). Methods. One hundred and seventy-five Italian patients who satisfied the International Study Group criteria for BD and 235 healthy age- and sex-matched blood donors were genotyped for the �463G/A promoter polymorphism of the MPO gene by molecular methods. The patients were subgrouped according to the presence or absence of clinical manifestations. Results. The distribution of allele and genotype frequencies of the MPO �463A/G polymorphism did not differ significantly between the BD patients and the healthy…

AdultMalemedicine.medical_specialtySystemic diseaseAdult; Behcet Syndrome; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Heterozygote; Histocompatibility Testing; Humans; Male; Peroxidase; Promoter Regions Genetic; Polymorphism GeneticHeterozygoteGenotypeBehcet's diseaseBehçet's disease; Disease manifestation; Myeloperoxidase; Myeloperoxidase gene polymorphism; Adult; Behcet Syndrome; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Heterozygote; Histocompatibility Testing; Humans; Male; Peroxidase; Promoter Regions Genetic; Polymorphism Genetic; Rheumatology; Pharmacology (medical)Promoter RegionsRheumatologyGeneticGene FrequencyInternal medicineGenotypemedicineHumansPharmacology (medical)Genetic Predisposition to DiseaseAllelePolymorphismPromoter Regions GeneticPeroxidasePolymorphism Geneticbiologybusiness.industryBehcet SyndromeHistocompatibility TestingOdds ratiomedicine.diseaseRheumatologyGenotype frequencyMyeloperoxidaseImmunologybiology.proteinFemalebusinessRheumatology (Oxford, England)
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Effect of long-term treatment with GH on bone metabolism, bone mineral density and bone elasticity in GH-deficient adults

1998

OBJECTIVE Adults with GH deficiency (GHD) commonly have subnormal bone mineral density (BMD), and have been reported to have an increased risk of fractures. It has been suggested that GH replacement therapy may have beneficial effects on bone in such patients. The aim of this study was to investigate the effects of long-term GH replacement therapy on bone metabolism, BMD and bone elasticity in adults with GHD. DESIGN At the start of the study, 20 adults with GHD were randomized to receive either GH, 0.25 IU/kg/week (the ‘GH group’) or placebo (the ‘placebo group’). After 6 months, patients in the placebo group were switched to GH therapy, and all patients received GH for a further 42 months…

AdultMalemedicine.medical_specialtyTime FactorsEndocrinology Diabetes and MetabolismPlaceboBone and BonesCollagen Type IBone resorptionBone remodelingGrowth hormone deficiencylaw.inventionAbsorptiometry PhotonEndocrinologyN-terminal telopeptideForearmRandomized controlled trialBone DensitylawInternal medicineHumansMedicineBone mineralbusiness.industryMiddle Agedmedicine.diseaseElasticityPeptide Fragmentsmedicine.anatomical_structureEndocrinologyGrowth HormoneFemaleCollagenPeptidesbusinessBiomarkersProcollagenClinical Endocrinology
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Risk factors for clinical stress fractures in male military recruits: A prospective cohort study

2004

This prospective study was aimed at evaluating risk factors for symptomatic stress fractures among 179 Finnish male military recruits, aged 18 to 20 years. The subjects were studied in the very beginning of the military service of 6 to 12 months in summer. Bone mineral content (BMC) and density (BMD) were measured by dual energy X-ray absorptiometry (DXA) at the lumbar spine and at the hip and heel ultrasound investigation was performed. Blood was sampled for determination of serum total and free testosterone, total and free estradiol, sex hormone-binding globulin (SHBG), procollagen type I N propeptide, total and carboxylated osteocalcin, tartrate-resistant acid phosphatase 5b, 25-hydroxyv…

AdultMalemusculoskeletal diseasesmedicine.medical_specialtyHistologyAdolescentFractures StressBone densityPhysiologyEndocrinology Diabetes and MetabolismAcid PhosphataseOsteocalcinParathyroid hormoneCollagen Type IBone remodelingSex hormone-binding globulinN-terminal telopeptideBone DensityRisk FactorsSex Hormone-Binding GlobulinInternal medicinemedicineHumansTestosteroneProspective StudiesVitamin DProspective cohort studyFemoral neckPolymorphism GeneticStress fracturesEstradiolbiologyTartrate-Resistant Acid Phosphatasebusiness.industrymedicine.diseaseIsoenzymesMilitary Personnelmedicine.anatomical_structureEndocrinologyReceptors EstrogenParathyroid HormoneReceptors Androgenbiology.proteinbusinessBone
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Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer

2020

Importance Persistent chemotherapy-induced alopecia (pCIA) has been recently described in patients with breast cancer and in its most severe form occurs in up to 10% of these patients. Genetic risk factors associated with pCIA have not been adequately explored. Objective To identify genetic variants associated with pCIA. Design, Setting, and Participants In this genetic association study, 215 women with breast cancer treated with docetaxel-based chemotherapy with a follow-up of 1.5 to 10 years after the end of the treatment were recruited retrospectively through 3 hospital oncology units across Spain between 2005 and 2018. Severe pCIA was defined as lack of scalp hair recovery (Common Termi…

AdultOncologymedicine.medical_specialtyATP Binding Cassette Transporter Subfamily BBiopsyBreast NeoplasmsGenome-wide association studyDocetaxelDermatologyPolymorphism Single Nucleotide030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineBreast cancerRisk FactorsInternal medicineAntineoplastic Combined Chemotherapy ProtocolsmedicineHumansGenetic Predisposition to DiseasePromoter Regions GeneticAdverse effectRetrospective StudiesDose-Response Relationship Drugbusiness.industryAge FactorsCase-control studyAlopeciaCommon Terminology Criteria for Adverse EventsRetrospective cohort studyOdds ratioMiddle Agedmedicine.diseaseEnhancer Elements GeneticDocetaxelCase-Control Studies030220 oncology & carcinogenesisFemalebusinessHair FollicleFollow-Up StudiesGenome-Wide Association Studymedicine.drugJAMA Dermatology
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Biochemical bone markers compared with bone density measurement by dual energy X-ray absorptiometry

1995

In contrast to medical imaging, the biochemical markers allow a more frequent determination and are not as invasive as histomorphometric methods. We investigated biochemical markers of type I collagen compared with bone density measurements in 85 females between 41 and 89 years of age (median: 57 years). The bone density measurements were performed by dual energy X-ray absorptiometry (DXA) on the lumbar spine (L1-4). The bone density measurements were stated as a percentage of the norm. All patients were divided into three groups: I =80%; II = 80-130%; III =120%. Based on this classification the median concentration of the I-carboxyterminal propeptide of type I collagen in serum (S-PICP) as…

AdultPathologymedicine.medical_specialtyAnabolismBone densityEndocrinology Diabetes and MetabolismBone and BonesCollagen Type IBone remodelingAbsorptiometry PhotonEndocrinologyN-terminal telopeptideBone DensityInternal medicinemedicineHumansOrthopedics and Sports MedicineDual-energy X-ray absorptiometryAgedAged 80 and overbiologymedicine.diagnostic_testChemistryLiterMiddle AgedPeptide FragmentsEndocrinologyOsteocalcinbiology.proteinRegression AnalysisFemaleCollagenPeptidesBiomarkersProcollagenType I collagenCalcified Tissue International
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Pneumococcus infections: Is the burden still as heavy?

2012

EA MERS CT3 Enjeu 3; International audience; The death rate of invasive pneumococcal infections decreased by 100 fold in one century. This tremendous improvement was due mainly to antibiotic use and multiple attempts at antipneumococcal vaccinations; thus, this was true only for developed countries. However, in France, the incidence has increased, over the last 10 years, in all age classes except for children vaccinated by the heptavalent pneumococcal conjugate vaccine. The incidence of these infections remains high, when associated to some risk factors such as HIV infection, malignant blood diseases, solid cancers, bronchial diseases, or alcohol abuse. The pneumococcal vaccine should be pr…

AdultSerotypeHeptavalent Pneumococcal Conjugate Vaccine[SDV]Life Sciences [q-bio]Immunization SecondaryAlcohol abuseGlobal HealthPneumococcal InfectionsPneumococcal Vaccines03 medical and health sciences0302 clinical medicineRisk FactorsHeptavalent Pneumococcal Conjugate Vaccine[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyHumansMedicineserotype030212 general & internal medicineSerotypingChildinfection invasive à pneumocoque0303 health sciences030306 microbiologybusiness.industrypneumococcal invasive infectionDeveloped CountriesIncidenceMortality rateIncidence (epidemiology)VaccinationAge Factorssérotypemedicine.disease3. Good healthVaccinationPneumococcal infectionsStreptococcus pneumoniaeInfectious DiseasesPneumococcal vaccine[SDE]Environmental SciencesImmunologyDisease SusceptibilityFrancebusinessMédecine et Maladies Infectieuses
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Treatment of hyperandrogenic alopecia in women

2003

Many women with androgenic alopecia have normal circulating androgen levels. Increased scalp sensitivity to androgens may account for these cases. Even when androgen levels are increased, no particular pattern has emerged. Classical anti-androgen measures have proved disappointing, in contrast to the results obtained in women with hirsutism or acne. This study evaluated flutamide and finasteride in 36 premenopausal, hyperandrogenic women presenting with androgenic alopecia. Frontal hair thinning was assessed in photos of the frontoparietal region using the Ludwig grading system. Thirty ovulatory women matched for age and body weight served as a control group. Groups of 12 subjects received …

Adultmedicine.medical_specialtyRandomizationmedicine.drug_classDehydroepiandrosteroneEthinyl EstradiolAntiandrogenFlutamidelaw.inventionchemistry.chemical_compound5-alpha Reductase InhibitorsRandomized controlled triallawInternal medicineHumansMedicineTestosteroneEnzyme InhibitorsCyproterone AcetateTestosteronehirsutismGynecologyDehydroepiandrosterone Sulfatebusiness.industryFinasterideHyperandrogenismObstetrics and GynecologyCyproterone acetateAlopeciaAndrogen AntagonistsGeneral MedicineAndrogenmedicine.diseaseFlutamideRegimenEndocrinologyHair lossItalyLiverReproductive MedicinechemistryFinasterideCyproteroneFemaleHyperandrogenismbusinessmedicine.drugFertility and Sterility
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Melatonin Content of Human Milk: The Effect of Mode of Delivery

2020

Objective: Cesarean section rates are increasing in developed countries and could be performed as an emergency or elective procedure. Our research aim was to determine whether elective cesarean sec...

Adultmedicine.medical_specialtygenetic structuresSection (typography)BreastfeedingPediatricsMelatoninPregnancyMaternity and MidwiferymedicineHumansLactationLongitudinal StudiesProspective Studieshealth care economics and organizationsreproductive and urinary physiologyMelatoninMilk HumanCesarean SectionObstetricsbusiness.industryVaginal deliveryColostrumHealth PolicyInfant NewbornObstetrics and GynecologyDelivery Obstetricfemale genital diseases and pregnancy complicationsBreast Feedingsurgical procedures operativeMode of deliveryFemalebusinessDeveloped countrymedicine.drugBreastfeeding Medicine
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