Search results for "perinatology"

showing 10 items of 1762 documents

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

2020

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

AdultMalePediatricsmedicine.medical_specialtySkeletal anomaliesRadiographyPelvic bones Musculoskeletal system Congenital abnormalities VACTERL association Radiography International classification of diseasesInfant Newborn DiseasesPelvismedicineHumansbusiness.industryIncidenceMedical recordInfant NewbornObstetrics and GynecologyOdds ratiomedicine.diseaseVACTERL associationHypoplasiaMusculoskeletal AbnormalitiesRadiographyAgenesisPediatrics Perinatology and Child HealthFemaleHigh incidencebusinessDigestive System Abnormalities
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Does intensive multimodal treatment for maternal ADHD improve the efficacy of parent training for children with ADHD? A randomized controlled multice…

2015

Background This is the first randomized controlled multicenter trial to evaluate the effect of two treatments of maternal attention-deficit hyperactivity disorder (ADHD) on response to parent–child training targeting children's external psychopathology. Methods Mother–child dyads (n = 144; ADHD according to DSM-IV; children: 73.5% males, mean age 9.4 years) from five specialized university outpatient units in Germany were centrally randomized to multimodal maternal ADHD treatment [group psychotherapy plus open methylphenidate medication; treatment group (TG): n = 77] or to clinical management [supportive counseling without psychotherapy or psychopharmacotherapy; control group (CG): n = 67].…

AdultMalePediatricsmedicine.medical_specialtymedicine.medical_treatmentMothersChild Behavior DisordersGroup psychotherapyMaintenance therapyMulticenter trialOutcome Assessment Health CareDevelopmental and Educational PsychologymedicineHumansChildAdverse effectMethylphenidateMiddle AgedCombined Modality TherapyConfidence intervalPsychiatry and Mental healthAttention Deficit Disorder with HyperactivityPediatrics Perinatology and Child HealthMethylphenidatePsychotherapy GroupParent trainingCentral Nervous System StimulantsFamily TherapyFemalePsychologyPsychopathologymedicine.drugClinical psychologyJournal of Child Psychology and Psychiatry
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Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome

2012

Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.

AdultMalePolyhydramniosSurgical resectioncongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyDay of lifePeutz-Jeghers SyndromeColonoscopyPeutz–Jeghers syndromePolypsPregnancyStomach NeoplasmsAbdominal explorationmedicineHumansskin and connective tissue diseasesmedicine.diagnostic_testGastric Outlet Obstructionbusiness.industryInfant NewbornGastric outlet obstructionGeneral Medicinemedicine.diseasedigestive system diseasesSurgeryPediatrics Perinatology and Child HealthFemaleSurgerybusinessJournal of Pediatric Surgery
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Non-Immune Goiter and Hypothyroidism in a 19-Week Fetus: A Plea for Conservative Treatment

2009

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.

AdultMalePolyhydramniosendocrine systemmedicine.medical_specialtyPediatricsPolyhydramniosGoiterAmniotic fluidendocrine system diseasesLevothyroxineThyrotropinUltrasonography PrenatalThyroid-stimulating hormonePregnancyCongenital HypothyroidismmedicineHumansFetusPregnancyGoiterbusiness.industryAmniotic Fluidmedicine.diseaseSurgeryCongenital hypothyroidismFetal DiseasesThyroxinePregnancy Trimester SecondPediatrics Perinatology and Child HealthFemaleCordocentesisbusinesshormones hormone substitutes and hormone antagonistsmedicine.drugThe Journal of Pediatrics
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Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency

1997

We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is differen…

AdultMaleProbandPathologymedicine.medical_specialtyWeaknessGenetic LinkageBiopsyBiologyMuscular DystrophiesOculopharyngeal muscular dystrophySural NervePathognomonicGenetic linkageCarnitineGermanymedicineHumansCarnitineGenetics (clinical)AgedChromosomes Human Pair 14Family HealthGeneticsElectromyographyHaplotypeMiddle Agedmedicine.diseaseDysphagiaMitochondriaPedigreeMicroscopy ElectronPhenotypeNeurologyOculomotor MusclesPediatrics Perinatology and Child HealthPharyngeal MusclesFemaleNeurology (clinical)medicine.symptommedicine.drugNeuromuscular Disorders
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Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis

1997

The neuronal ceroid-lipofuscinoses (NCL) are a group of progressive encephalopathies with a fatal course that are mostly of autosomal recessive inheritance. The pathophysiological mechanisms causing the diseases are not known. The characteristic histomorphological feature of the NCL is an abnormal lysosomal accumulation of lipopigments in neural and extraneural cells, including peripheral blood leukocytes. We studied the function of peripheral venous blood immunocompetent cells in ten patients with NCL and in age- and sex-matched controls to determine how, if at all, the accumulation of intracytoplasmic storage material influences the functional capacity of affected tissue. Our results did …

AdultMaleProgrammed cell deathPathologymedicine.medical_specialtyAdolescentmedicine.medical_treatmentImmunoglobulinsApoptosisImmunoglobulin EImmunophenotypingPathogenesisDevelopmental NeuroscienceNeuronal Ceroid-LipofuscinosesSuperoxidesLeukocytesmedicineHumansChildRespiratory BurstbiologyInterleukin-6Interleukin-8General Medicinemedicine.diseasePathophysiologyCytokineApoptosisChild PreschoolPediatrics Perinatology and Child HealthImmunologybiology.proteinFemaleNeuronal ceroid lipofuscinosisNeurology (clinical)AntibodyBiomarkersCell DivisionInterleukin-1Brain and Development
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The Effect of Spirometry on Bronchial and Alveolar Nitric Oxide in Subjects with Asthma

2013

The effect of spirometric maneuvers on exhaled nitric oxide (NO) at the constant flow rate of 50 ml/s (FE(NO)) has been studied with equivocal results. Furthermore, the effects of spirometry on bronchial NO flux (J'aw(NO)) and alveolar NO (CA(NO)), two measurements increasingly being used in clinical and research protocols, are unknown. The aim of this study was to evaluate the effect of spirometry on FE(NO), J'aw(NO), and CA(NO) in adults with asthma.Forty-four adults with asthma were studied. To assess the impact of exhaled NO measurement itself on exhaled NO values, FE(NO), J'aw(NO), and CA(NO) were obtained twice, at baseline and after a resting period of 10 min. Then spirometry (with o…

AdultMalePulmonary and Respiratory MedicineSpirometrymedicine.medical_specialtymedicine.drug_classBronchiNitric OxideNitric oxidechemistry.chemical_compoundForced Expiratory VolumeInternal medicineBronchodilatormedicineHumansImmunology and AllergyAsthmamedicine.diagnostic_testConstant flowbusiness.industryrespiratory systemmedicine.diseaseAsthmarespiratory tract diseasesPulmonary AlveolichemistrySpirometryPediatrics Perinatology and Child HealthExhaled nitric oxideCardiologyFemalebusinessJournal of Asthma
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The prevalence of sleep impairments and predictors of sleep quality among patients with asthma

2020

Background: Sleep is a significant dimension of daily life. However, only a few studies have examined the sleep quality of asthmatics in a real-world clinical settings. Objective: This study is aimed to estimate the prevalence of sleep impairments among asthmatic patients and examine the relationship between sleep quality, asthma control, rhinitis symptoms, and sociodemographic characteristics. Methods: The present study adopted the observational cross-sectional research design that has been designed by the Italian Respiratory Society and used valid assessments to measure the study variables. Results: Data from 1150 asthmatic patients (mean age 51.01 years ± 16.03) were subjected to analysi…

AdultMalePulmonary and Respiratory Medicineasthma; quality of life; reflux; rhinitis; sleep; sleepiness;Settore MED/09 - Medicina InternaCross-sectional studySettore MED/10 - Malattie Dell'Apparato RespiratoriosleepinessQuality of life (healthcare)rhinitisSleep Initiation and Maintenance DisordersPrevalencemedicineHumansImmunology and AllergysleepAgedAsthmaAsthma quality of life reflux rhinitis sleep sleepinessSleep Apnea ObstructiveSleep qualitybusiness.industryMiddle Agedmedicine.diseaseSleep in non-human animalsAsthma; quality of life; reflux; rhinitis; sleep; sleepinessAsthmarhinitiasthma sleep rhinitis sleepiness reflux quality of lifeCross-Sectional StudiesSocioeconomic Factorsquality of lifePediatrics Perinatology and Child HealthGastroesophageal RefluxFemaleSettore MED/26 - NeurologiarefluxbusinessClinical psychology
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Risk factors for cystic fibrosis arthropathy: Data from the German cystic fibrosis registry

2021

Epidemiology and potential risk factors for cystic fibrosis arthropathy (CFA) were studied in a relevant cystic fibrosis (CF) patient cohort.Cohort study of patients included in the German CF registry in 2016-2017. Descriptive analysis, exploratory tests and multivariable logistic regression were used to assess prevalence of CFA and associated potential risk factors for adult patients with/without chronic Pseudomonas aeruginosa infection.6069 CF patients aged from 0 to 78 years were analysed. CFA was observed in 4.9% of the patients. Prevalence was significantly higher in adult patients (8.4%) compared to patients18 years (0.7%; p0.0001). Logistic regression analyses in adult patients (n=33…

AdultMalePulmonary and Respiratory Medicinemedicine.medical_specialtyAdolescentCystic FibrosisCystic fibrosis-related diabetesmedicine.disease_causeLogistic regressionCystic fibrosisDiabetes ComplicationsSex FactorsRisk FactorsGermanyInternal medicineArthropathyEpidemiologyPrevalencemedicineHumansPseudomonas InfectionsRegistriesSinusitisChildAgedPseudomonas aeruginosabusiness.industryAge FactorsInfant NewbornInfantMiddle Agedmedicine.diseaseChild PreschoolPediatrics Perinatology and Child HealthCohortExocrine Pancreatic InsufficiencyFemaleJoint DiseasesbusinessCohort studyJournal of Cystic Fibrosis
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The Revised Asthma Problem Behavior Checklist: Adaptation for Use in Spanish Asthmatic Patients

1997

Behavioral problems associated with asthma management were examined in a group of 100 adult Spanish outpatients with asthma (57 women, 43 men; 17-69 years of age). All of them completed a Spanish version of the Revised Asthma Problem Behavior Checklist (RAPBC). Data about duration, severity, and self-management of asthma (self-efficacy expectancies and health care utilization), as well as dyspnea and FEV1, were also recorded. The highest-reliability Cronbach alpha indices were for the criteria related to emotions and behaviors that could precipitate asthma attacks. Concurrent criterion validity was examined first by Pearson correlations between the RAPBC scores and clinical data about asthm…

AdultMalePulmonary and Respiratory Medicinemedicine.medical_specialtyAdolescentHealth BehaviorCronbach's alphaQuality of lifeSurveys and QuestionnairesHealth careCriterion validityHumansImmunology and AllergyAsthmatic patientMedicineAgedLanguageAsthmaAnalysis of VarianceBehaviorbusiness.industryReproducibility of ResultsMiddle Agedmedicine.diseaseAsthmaChecklistrespiratory tract diseasesSelf CarePediatrics Perinatology and Child HealthPhysical therapyFemaleAnalysis of variancebusinessClinical psychologyJournal of Asthma
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