Search results for "DEFICIENCY"

showing 10 items of 1071 documents

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

1987

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues reveale…

AdultPathologymedicine.medical_specialtyMalabsorptionGastrointestinal DiseasesEncephalopathyRespiratory chainCytochrome-c Oxidase DeficiencyEyePathology and Forensic Medicine03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineMuscular DiseasesMitochondrial myopathymedicineHumansMuscular dystrophy030304 developmental biology2. Zero hungerBrain Diseases0303 health sciencesbusiness.industryPeripheral Nervous System DiseasesSyndromemedicine.diseaseMitochondria MusclePeripheral neuropathyLactic acidosisFemaleNeurology (clinical)businessPolyneuropathy030217 neurology & neurosurgeryActa Neuropathologica
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Trends in hospitalizations and deaths in HIV-infected patients in Spain over two decades.

2021

Background The prognosis of HIV infection dramatically improved after the introduction of triple antiretroviral therapy 25 years ago. Herein, we report the impact of further improvements in HIV management since then, looking at all hospitalizations in persons living with HIV (PLWH) in Spain. Methods Retrospective study using the Spanish National Registry of Hospital Discharges. Information was retrieved since 1997 to 2018. Results From 79,647,783 nationwide hospital admissions recorded during the study period, 532,668 (0.67%) included HIV as diagnosis. The mean age of PLWH hospitalized increased from 33 to 51 years-old (p < 0.001). The rate of HIV hospitalizations significantly declined aft…

AdultPediatricsmedicine.medical_specialtyImmunologyHuman immunodeficiency virus (HIV)Hiv managementHIV Infectionsmedicine.disease_causeLiver diseaseAcquired immunodeficiency syndrome (AIDS)medicineImmunology and AllergyHiv infected patientsHumansRetrospective StudiesAcquired Immunodeficiency Syndromebusiness.industryRetrospective cohort studyKidney InsufficiencyMiddle Agedmedicine.diseaseHospitalizationInfectious DiseasesSpainNational registrybusinessAIDS (London, England)
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Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE).

1993

SUMMARY A complete functional deficiency of Clq is described in a patient suffering from SLE. From reduced plasma C1 activity of the parents a hereditary trait was assumed. The defective C1q molecule was haemolytically inactive, did not bind to immune complexes, and was not recognized by the monocyte C1q receptor. C1 activity in the patient's serum could be restored by the addition of purified C1q. Analysis by gelfiltration and ultracentrifugation experiments revealed an immunoreactive molecule of about 150 kD mol. wt, corresponding to one structural subunit of the C1q macromolccule, containing two A chain-B chain dimers and a C-C chain dimer. Applying Southern blot analysis with cDNA clone…

AdultProtein subunitImmunologychemical and pharmacologic phenomenaIn Vitro TechniquesMitochondrial Proteinsimmune system diseasesComplementary DNAmedicineImmunology and AllergyHumansLupus Erythematosus SystemicReceptorskin and connective tissue diseasesSouthern blotLupus erythematosusMembrane Glycoproteinsbusiness.industryMonocyteComplement C1qDNAComplement deficiencymedicine.diseasePrecipitin TestsReceptors ComplementMolecular Weightmedicine.anatomical_structureHyaluronan ReceptorsImmunologyFemaleRestriction fragment length polymorphismbusinessCarrier ProteinsPolymorphism Restriction Fragment LengthResearch Article
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Cervical ectopy: associations with sexually transmitted infections and HIV. A cross-sectional study of high school students in rural South Africa.

2014

Objectives It has been hypothesised that ectopy may be associated with increased susceptibility to sexually transmitted infections (STIs). In this cross-sectional study, we wanted to explore the association between STIs (including HIV) and cervical ectopy. Methods We included 700 sexually active young women attending randomly selected high schools in a rural district in KwaZulu-Natal, South Africa. The district is endemic of HIV and has a high prevalence of STIs. We did computer-assisted measurements of the ectocervical area covered by columnar epithelium (ectopy) in colposcopic images and STI analyses on cervicovaginal lavage and serum samples. All participating women answered a questionna…

AdultRural PopulationAFRICAmedicine.medical_specialtyAdolescentCross-sectional studyEpidemiologyPopulationECTOPYChlamydia trachomatisDermatologyCervix UteriChoristomamedicine.disease_causeurologic and male genital diseasesSouth AfricaYoung AdultAcquired immunodeficiency syndrome (AIDS)Surveys and QuestionnairesmedicineHumans1506Young adulteducationStudentsCervixGynecologyeducation.field_of_studyChlamydiaSchoolsObstetricsbusiness.industryHIVChlamydia Infectionsmedicine.diseasefemale genital diseases and pregnancy complicationsCHLAMYDIA INFECTIONInfectious Diseasesmedicine.anatomical_structureCross-Sectional StudiesMenarcheFemaleDisease SusceptibilityChlamydia trachomatisbusinessSexually transmitted infections
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Papular pruritic eruption with human immunodeficiency virus infection.

1991

Adultbusiness.industryPruritusHuman immunodeficiency virus (HIV)DermatitisHIV InfectionsDermatologymedicine.disease_causeVirologyMetronidazolemedicineHumansFemalebusinessZidovudineInternational journal of dermatology
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Reference Values of Thyroid Hormones During the First Trimester of Pregnancy in Valencian Community (Spain) and Their Relationship with Iodine Intake

2020

Thyroid hormones require special monitoring during the first trimester of gestation. Local reference values should be applied if available, especially in iodine-deficient areas, as generalized iodine supplementation is controversial. The aim of the present study was to establish thyroid stimulating hormone (TSH) and free thyroxine (FT4) reference values in the first trimester of gestation in the Valencian community (Spain) and relate them to iodine intake. A total of 261 healthy pregnant women participated in the study. The calculated reference values were 0.128&ndash

Adultendocrine systemendocrine system diseasesNutritional Statuschemistry.chemical_elementPhysiology030209 endocrinology & metabolismlcsh:TX341-641Thyroid Function TestsIodineArticleEating03 medical and health sciences0302 clinical medicineThyroid-stimulating hormonegestationPregnancymedicineHumans030212 general & internal medicineSodium Chloride Dietarythyroid hormonesiodine deficiencyPregnancyNutrition and Dieteticsbusiness.industryThyroidioduriaMaternal Nutritional Physiological Phenomenareference valuesmedicine.diseaseIodine deficiencyiodized saltHealthy VolunteersPregnancy Trimester FirstIodised saltCross-Sectional Studiesmedicine.anatomical_structurechemistrySpainReference valuesDietary SupplementsGestationFemalebusinesslcsh:Nutrition. Foods and food supplyhormones hormone substitutes and hormone antagonistsIodineFood ScienceNutrients
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Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.

2009

&lt;i&gt;Background:&lt;/i&gt; Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene &lt;i&gt;(CYP21)&lt;/i&gt; has a high degree of variability. &lt;i&gt;Objective:&lt;/i&gt; This study was conducted to evaluate &lt;i&gt;CYP21 &lt;/i&gt;gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. &lt;i&gt;Methods:&lt;/i&gt; 30 out of 61 women e…

Adultmedicine.medical_specialtyAdolescentDrug ResistancePhysiologyDermatologyAdrenocorticotropic hormoneYoung AdultSettore MED/38 - Pediatria Generale E SpecialisticaPapulopustularInternal medicineAcne VulgarismedicineHumansPoint MutationCongenital adrenal hyperplasiaGenetic TestingRefractory acne Excessive androgen production Non-classical 21-hydroxylase deficiency CYP21 gene mutations.AcnehirsutismAdrenal Hyperplasia Congenitalmedicine.diagnostic_testbiologybusiness.industry17-alpha-HydroxyprogesteroneACTH stimulation test21-Hydroxylasemedicine.diseasePolycystic ovaryEndocrinologybiology.proteinFemaleSteroid 21-HydroxylaseHyperandrogenismbusinessPolycystic Ovary Syndrome
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Artificial Neural Network for Predicting Iodine Deficiency in the First Trimester of Pregnancy in Healthy Women

2020

Iodine deficiency in Spain is a persisting public health problem and the prescription of potassium iodide is recommended during pregnancy. The purpose of this study was to develop an Artificial Neural Network (ANN) to predict the risk factors of iodine deficiency during pregnancy, and compare the results obtained with a logistic regression model. Two hundred forty-four healthy pregnant women were included in a descriptive and prospective study in their first trimester of pregnancy. The women enrolled were asked specifically about their use of supplements containing potassium iodide, iron, folic acid and/or multivitamins during pregnancy. The consumption of iodine-rich foods was assessed thr…

Adultmedicine.medical_specialtyAdolescentIronNutritional Statuschemistry.chemical_elementLogistic regressionIodineGeneral Biochemistry Genetics and Molecular BiologyBody Mass IndexYoung Adult03 medical and health sciencesFolic Acid0302 clinical medicinePregnancySurveys and QuestionnairesmedicineHumansProspective Studies030212 general & internal medicineProspective cohort studyPregnancyObstetricsbusiness.industryFeeding BehaviorGeneral Medicinemedicine.diseaseIodine deficiencyPregnancy Trimester FirstIodised saltCross-Sectional StudiesROC CurvechemistryFoodSpain030220 oncology & carcinogenesisRegression AnalysisGestationFemaleNeural Networks ComputerbusinessBody mass indexIodineMaternal AgeThe Tohoku Journal of Experimental Medicine
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Iron-dependent erythropoiesis in women with excessive menstrual blood losses and women with normal menses

2013

In women of fertile age, iron loss consequent to excessive menstrual discharge is by far the most frequent cause of iron-deficient anemia. However, the relationship between menstrual discharge and iron loss is poorly understood. In this prospective study, total menstrual and iron losses were assayed in a large cohort of non-anemic women and women with excessive menstrual blood losses (menorrhagia) in order to provide data useful for intervention. One hundred and five Caucasian women aged 20–45 years were recruited. Blood cell count and serum ferritin (SF) levels were determined in each case before menses. Menstrual fluid losses (MFL) were determined using a standardized pads’ weight method.…

Adultmedicine.medical_specialtyAnemiaIronIron deficient anemiaPhysiologyIron deficiency Excessive mesntrual blood lossesYoung AdultIron lossesInternal medicineHumansMedicineErythropoiesisProspective StudiesYoung adultProspective cohort studyMenorrhagiaMenstrual bloodGynecologyHematologyAnemia Iron-Deficiencybusiness.industryIron deficiencyIron deficiency; Iron deficient anemia; Iron losses; Menstrual blood lossesHematologyGeneral MedicineIron deficiencyMiddle Agedmedicine.diseaseMenstrual blood lossesMenstruationCohortErythropoiesisFemalebusinessAnnals of Hematology
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Abdominal aortic thrombosis secondary to reactive thrombocytosis in a patient with iron deficiency anemia

2016

Adultmedicine.medical_specialtyAnemiaMicrocytic anemia030204 cardiovascular system & hematology03 medical and health sciences0302 clinical medicineCeliac arterymedicine.arteryInternal medicinemedicineAorta AbdominalAortaHematologyThrombocytosisAnemia Iron-Deficiencybusiness.industryGeneral MedicineHematologymedicine.diseaseThrombosisIron-deficiency anemia030220 oncology & carcinogenesisThrombosiCardiologyThrombocytosiFemalebusinessHuman
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