Search results for " Type 1"

showing 10 items of 430 documents

Focal nodular hyperplasia of the liver: an unusual association with diabetes mellitus in a child and review of literature

2010

Abstract Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in children have recently increased in number, with many cases associated to drug intake, particularly to chemotherapy. We here describe, to our knowledge, the first case of focal nodular hyperplasia in association with diabetes mellitus in childhood.

MalePathologymedicine.medical_specialtyAdenomamedicine.medical_treatmentBiopsyDiagnosis DifferentialBiliary atresiaDiabetes mellitusBiopsyCase reportmedicineHepatectomyHumansChildChemotherapymedicine.diagnostic_testbusiness.industryFocal nodular hyperplasialcsh:RJ1-570lcsh:Pediatricsmedicine.diseaseDiabetes Mellitus Type 1Focal Nodular HyperplasiaDifferential diagnosisHepatectomybusinessTomography X-Ray ComputedFollow-Up Studies
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A brief version of the Pediatric Inventory for Parents (PIP) in Spanish population: Stress of main family carers of chronic paediatric patients.

2018

A chronic illness in childhood has a negative impact on the paediatric patient and on family functioning. Psychological stress in parents influences the level of adjustment to the illness of their children. The Pediatric Inventory for Parents (PIP) was designed to measure stress in parents whose child has a chronic illness or requires prolonged medical monitoring. The main objective of this study is to provide a brief version of the Spanish translation of the PIP, across a sample consisting of 465 main familial caregivers (85.2% female, n = 396) between 27 and 67 years old ([Formula: see text] = 44.13; SD = 5.35) of paediatric patients between 9 and 18 years old ([Formula: see text] = 12.10…

MalePediatricsPsychometricsRespiratory Tract DiseasesEmotionsSocial Scienceslcsh:MedicineAnxietyPediatrics0302 clinical medicineSurveys and QuestionnairesMedicine and Health SciencesPsychology030212 general & internal medicineChildlcsh:ScienceDepression (differential diagnoses)Child PsychiatryMultidisciplinaryDepressionMiddle AgedCaregiversAnxietyFemalemedicine.symptomResearch ArticleAdultmedicine.medical_specialtyAdolescentPsychometricsPsychological StressDwarfismShort statureStructural equation modeling03 medical and health sciencesCronbach's alphaMental Health and PsychiatrymedicineHumansAsthmaAgedBronchiectasisbusiness.industryMood Disorderslcsh:RBiology and Life Sciencesmedicine.diseaseDiabetes Mellitus Type 1SpainChronic Diseaselcsh:Qbusiness030217 neurology & neurosurgeryStress PsychologicalPLoS ONE
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Neurocognitive functioning in children with type-1 diabetes with and without episodes of severe hypoglycaemia

2007

Previous studies have shown that recurrent severe hypoglycaemia can cause long-term cognitive impairment in children with type-1 diabetes, but the results are controversial, possibly due to the heterogeneity of samples and lack of comprehensive neuropsychological assessments of children. The aim of this study was to assess the effects of diabetes and severe hypoglycaemia on the neurocognitive functioning of children with a standardized, wide age-range neuropsychological test battery designed for the assessment of children. Eleven children with diabetes and a history of severe hypoglycaemia, 10 children with diabetes without a history of severe hypoglycaemia, and 10 healthy control children …

MalePediatricsmedicine.medical_specialty030209 endocrinology & metabolismNeuropsychological TestsSeverity of Illness IndexNEPSYPerceptual Disorders03 medical and health sciences0302 clinical medicineDevelopmental Neuroscience030225 pediatricsmedicineHumansNeuropsychological assessmentChildPsychiatryPsychomotor learningLanguage Disordersmedicine.diagnostic_testNeuropsychologyWechsler Adult Intelligence ScaleNeuropsychological testExecutive functionsHypoglycemia3. Good healthDiabetes Mellitus Type 1Child PreschoolPediatrics Perinatology and Child HealthFemaleNeurology (clinical)Psychomotor DisordersCognition DisordersPsychologyNeurocognitive030217 neurology & neurosurgeryDevelopmental Medicine & Child Neurology
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Updated 24-year trend of Type 1 diabetes incidence in children in Poland reveals a sinusoidal pattern and sustained increase

2017

AIMS To present the incidence trend for Type 1 diabetes in Polish children aged 0-14 years, updated using data collected during 2005-2012, and assess the reliability of the predictive model constructed previously using the 1989-2004 database. METHODS Children aged < 15 years with newly diagnosed Type 1 diabetes are recorded prospectively (EURODIAB criteria) in several regional registers in Poland. Age- and gender-standardized incidence rates for Type 1 diabetes were calculated per 100 000 persons/year. Incidence rates were analysed in terms of the dependency on age, gender, geographical region and population density. Incidence rate trends over time were modelled using generalized linear mod…

MalePediatricsmedicine.medical_specialtyAdolescentEndocrinology Diabetes and MetabolismObservation period030209 endocrinology & metabolismNewly diagnosedCohort Studies03 medical and health sciencesAge Distribution0302 clinical medicineEndocrinologyPatient ageIncidence trendsInternal MedicinemedicineHumans030212 general & internal medicineChildPopulation GrowthType 1 diabetesbusiness.industryIncidenceIncidence (epidemiology)Infant NewbornInfantmedicine.diseaseConfidence intervalDiabetes Mellitus Type 1Child PreschoolFemalePolandbusinessCohort studyDiabetic Medicine
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Ketogenic diet for infants with epilepsy: A literature review.

2020

Abstract The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0–23 months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0–23 months, and we considered only articles published between …

MalePediatricsmedicine.medical_specialtyDrug Resistant EpilepsyKetogenicmedicine.medical_treatmentDrug-resistant epilepsyDrug-resistant epilepsy Epilepsy Glucose transporter type 1 deficiency Infant Ketogenic diet Diet Ketogenic Disease Management Drug Resistant Epilepsy Epilepsy Female Glucose Transporter Type 1 Humans Infant. Infant Newborn. Male Seizures Treatment OutcomeNeonatal ageNewborn. MaleAge limitlaw.invention03 medical and health sciencesBehavioral NeuroscienceEpilepsy0302 clinical medicineRandomized controlled triallawSeizuresmedicineGlucose transporter type 1 deficiencyHumans030212 general & internal medicineProspective cohort studyGlucose Transporter Type 1Epilepsybusiness.industryInfant NewbornDisease ManagementInfantRetrospective cohort studyKetogenic dietInfant. InfantDrug Resistant Epilepsymedicine.diseaseDietTreatment OutcomeNeurologyFemaleNeurology (clinical)businessDiet Ketogenic030217 neurology & neurosurgeryKetogenic dietEpilepsybehavior : EB
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Bone status in adolescents and young adults with type 1 diabetes: a 10-year longitudinal study

2020

Introduction: This study presents a 10-year longitudinal assessment of bone status in adolescents and young adults with type 1 diabetes (T1D). Material and methods: Thirty-two patients (12 female, aged 20.5 ± 3.93 years, T1D duration 13.9 ± 1.97 years) were studied using quantitative ultrasound (QUS) and dual-energy X-ray absorptiometry (DXA). Standard deviation scores (SDS) for these results were calculated. The following clinical parameters were analysed: sex, age, T1D duration, anthropometric parameters, daily insulin requirement (DIR), mean glycated haemoglobin (HbA1c) in the year preceding the examination, medication other than insulin, history of bone fractures, and comorbidities. Res…

MalePediatricsmedicine.medical_specialtyLongitudinal studyAdolescentEndocrinology Diabetes and Metabolismmedicine.medical_treatmentBone and BonesAnthropometric parametersYoung AdultEndocrinologyAbsorptiometry PhotonBone DensitymedicineHumansReference populationLongitudinal StudiesYoung adultGlycated haemoglobinType 1 diabetesbusiness.industryInsulinmedicine.diseasetype 1 diabetes; glycaemic control; bone status; quantitative ultrasound; dual X-ray absorptiometryQuantitative ultrasoundDiabetes Mellitus Type 1OsteoporosisFemalebusinessEndokrynologia Polska (Polish Journal of Endocrinology)
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Leukocyte adhesion deficiency type I - a focus on oral disease in a young child

2010

This paper presents a case of the moderate form of Leukocyte adhesion deficiency type 1 (LAD-1) in a 4 year-old boy. LAD-1 is a rare, inherited immunodeficiency that affects 1 in 1 million people yearly. Affected patients are susceptible to recurrent bacterial and fungal infections, impaired pus formation and delayed wound healing. In the oral clinical finding, more important is a generalized prepuberal periodontitis that can affect the primary and permanent dentitions. For this reason cooperation between dentists and pediatricians is essential in these patients. Evaluating immune system in these patients included peripheral blood leukocyte counts, measurement of serum immunoglobulin levels…

MalePeriodontitisYoung childbusiness.industryLeukocyte-Adhesion Deficiency SyndromePrenatal diagnosismedicine.disease:CIENCIAS MÉDICAS [UNESCO]Leukocyte Adhesion Deficiency Type 1Immune systemOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASImmunologymedicineHumansSurgeryOral diseasePeriodontitisbusinessGeneral DentistryImmunodeficiencyLeukocyte adhesion deficiency
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Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

2020

Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…

MaleProbandmedicine.medical_specialtyNeurologyMigraine with AuraFamilial hemiplegic migraine type 1Mutation MissenseneuropsychologyCase Reportmedicine.disease_causeNystagmus Pathologiclcsh:RC346-42903 medical and health sciences0302 clinical medicinemedicineHumansSpinocerebellar ataxia type 6Missense mutationFamilyChildFamilial hemiplegic migrainelcsh:Neurology. Diseases of the nervous system030304 developmental biologyEpisodic ataxiaGenetics0303 health sciencesMutationbusiness.industryCACNA1A geneEpisodic ataxia type2Cognitive affective syndromeGeneral Medicinemedicine.diseasePhenotypePhenotypeAtaxiaCalcium ChannelsNeurology (clinical)businessCognitive affective syndrome neuropsychology.030217 neurology & neurosurgeryBMC Neurology
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Proteomic signature of the Dravet syndrome in the genetic Scn1a-A1783V mouse model.

2021

Abstract Background Dravet syndrome is a rare, severe pediatric epileptic encephalopathy associated with intellectual and motor disabilities. Proteomic profiling in a mouse model of Dravet syndrome can provide information about the molecular consequences of the genetic deficiency and about pathophysiological mechanisms developing during the disease course. Methods A knock-in mouse model of Dravet syndrome with Scn1a haploinsufficiency was used for whole proteome, seizure, and behavioral analysis. Hippocampal tissue was dissected from two- (prior to epilepsy manifestation) and four- (following epilepsy manifestation) week-old male mice and analyzed using LC-MS/MS with label-free quantificati…

MaleProteomics0301 basic medicineProteomeHippocampusEpilepsies MyoclonicHaploinsufficiencyScn1aHippocampusSynaptic TransmissionElevated Plus Maze TestEpilepsyMice0302 clinical medicineTandem Mass Spectrometry11-beta-Hydroxysteroid Dehydrogenase Type 1Genetic epilepsyCarbon-Nitrogen LigasesGene Knock-In TechniquesGliosisNeuronal PlasticityBehavior AnimalEpileptic encephalopathyImmunohistochemistryAstrogliosisNeurologyProteomeDisease ProgressionFemaleHaploinsufficiencySignal TransductionRC321-571Dopamine and cAMP-Regulated Phosphoprotein 32Neovascularization PhysiologicNeurosciences. Biological psychiatry. NeuropsychiatryBiologyNitric Oxide03 medical and health sciencesDravet syndromemedicineAnimalsHyperthermiaSocial Behaviorras-GRF1Proteomic Profilingmedicine.diseaseVascular Endothelial Growth Factor Receptor-2NAV1.1 Voltage-Gated Sodium ChannelDisease Models Animal030104 developmental biologyRotarod Performance TestSynaptic plasticityEpileptic Encephalopathy ; Genetic Epilepsy ; Mice ; Proteome ; Scn1aCalcium-Calmodulin-Dependent Protein Kinase Type 2Open Field TestNeuroscience030217 neurology & neurosurgeryChromatography Liquid
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Transforming growth factor β1 and additional renoprotective effect of combination ACE inhibitor and angiotensin II receptor blocker in hypertensive s…

2005

Objective To verify the benefit of renin–angiotensin system blockade in hypertension, the effects of 24 weeks’ losartan and ramipril treatment, both alone and in combination, on urinary albumin excretion (UAE) and circulating transforming growth factor b1 (TGFb1) have been evaluated in hypertensive subjects with minor renal abnormalities. Design and methods Fifty-one patients with stage 1 and 2 essential hypertension and with UAE &gt;—20 mg/24 h but with maintained renal function have been included. After a 4-week run-in with placebo administration, a randomized double-blind, three-arm double-dummy trial was used. All the hypertensives (HT) were allocated randomly to three treatment arms (1…

MaleRamiprilmedicine.medical_specialtyAngiotensin receptorHypertension RenalPhysiologyAngiotensin-Converting Enzyme InhibitorsPharmacologyKidneySeverity of Illness IndexLosartanAce-inhibitors Angiotensin II receptor blockers hypertensive renal disease transforming growth factor β1.Transforming Growth Factor beta1transforming growth factor b1RamiprilTransforming Growth Factor betaInternal medicineInternal MedicinemedicineHumansRenal Insufficiencybusiness.industryMiddle AgedAngiotensin IIBlockadeangiotensin II receptor blockerEndocrinologyLosartanhypertensive renal diseaseRenal physiologyACE inhibitorDrug Therapy CombinationFemaleCardiology and Cardiovascular Medicinebusinessangiotensin-converting enzyme-inhibitorAngiotensin II Type 1 Receptor BlockersBiomarkersTransforming growth factormedicine.drug
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